With Government

The ability to connect with FDA in meaningful ways continues to increase thanks to those patient group leaders who blazed the trail before you. The different opportunities to connect to the FDA are covered in more detail in subsequent sections, but a few resources that provide overviews are highlighted here. In addition, you will want to identify the NIH Institutes and Centers (ICs) that may be focused on research related to your disease. Building relationships with relevant NIH ICs increases your awareness of grants, special workshops, and other opportunities that may help you accelerate developing a therapy for your disease. 

• FDA: The FDA recognizes that patient perspectives are primary, and that these perspectives might differ significantly from what would be expected by clinicians and researchers who do not experience the challenges of living with the disease. This is particularly true in the context of rare diseases. Therefore, the FDA recommends early and continued contact as your group begins the process of therapy development.
  • Resources with information about ways to connect to the FDA include:
    • For Patients is a website developed by the FDA Patient Affairs staff to help patients and patient group leaders learn about therapy approvals, public meetings, special opportunities to connect with the FDA, and more. 
    • Learn About FDA Patient Engagement is a summary of organizations and opportunities at the FDA that incorporate patient involvement. Opportunities include the FDA Patient Network, a Patient Engagement Initiative, and the Patient Representative Program. 
    • Developing Products for Rare Diseases & Conditions explains the mission of the FDA Office of Orphan Products Development (OOPD) as well as the different programs that may be available to help with the development of therapies for rare diseases. The contact information for the OOPD is also provided.
    • FDA Patient Affairs Staff coordinates and supports patient engagement activities across the FDA to facilitate awareness and collaboration with patients, patient groups, and the FDA. Staff can be contacted directly at (301) 796-8460 or PatientAffairs@fda.hhs.gov .
  • To identify what is most important to patients, the FDA has multiple patient focused initiatives. Each of these programs is described in more detail in sections of Discovery: Collect Patient Experience Data. For example, the FDA:
    • Hosts internal Patient-Focused Drug Development (PFDD) meetings.
    • Assists with organization of external PFDD meetings.
    • Supports the development of benefit-risk analysis in the form of clinical outcome assessments (COAs).
    • Offers grants for natural history studies and clinical trials focused on rare diseases. 
  • Other resources to learn more about engaging with the FDA include:
    • Your Voice Matters: How to Engage with the FDA (2020) is a NORD RareEDU webinar in which three key FDA staff members share information about FDA programs designed to incorporate patient and caregiver voices into therapy development, including patient-focused outcomes. The video is one hour long. 
    • Regulatory Advocacy: Patient Organization Case Studies on Working with the FDA (2016)  is a Global Genes video presentation with suggestions for ways to work with the FDA and better understand regulatory processes and advance along the research and development continuum. The video is approximately an hour long. 
    • Working with Regulators: A Focus on the FDA (2015) provides patient group leaders with information about working with the FDA. Some of the topics in the 32-page document include the role of the FDA, the relationship between the FDA and patient groups, and new initiatives that allow patients to have better access to therapies. The document was prepared by the Cancer Policy Institute at the Cancer Support Community .
  • It is important to remember that although the FDA is open to and encourages the involvement of patient groups and patients, it is a federal regulatory agency focused on public health safety and has rules and regulations it must follow when considering approval of a therapy. 
• NIH: The different ICs at NIH may provide opportunities to connect your researchers and clinicians with specialists at the NIH. Many of the ICs offer grants or engagement opportunities for patient groups. Finding the ICs that may be involved in research for your disease early in the process will allow you to use their resources to their fullest.
  • List of NIH Institutes, Centers, and Offices can help you learn more about the 27 ICs at NIH. Each has its own specific research agenda, often focusing on particular diseases or body systems.
    • Many rare and complex diseases lacking treatments affect multiple systems and therefore may fall under more than one IC. 
    • If you are uncertain whether you found the right IC, use the contact information to call and find out. 
    • Find NIH Clinical Center Trials is a registry of publicly supported clinical studies conducted mostly at the NIH Clinical Center. Searching for studies for your disease or similar, more common diseases may help you identify NIH researchers and Institutes with knowledge about your disease.
  • The National Center for Advancing Translational Sciences (NCATS) was established to transform and accelerate the translational research process. NCATS collaborates with researchers, the public, and other stakeholder groups to design new approaches and technologies that ultimately will deliver more treatments to more people more quickly. NCATS:
    • Complements other NIH ICs, the private sector, and the nonprofit community.
    • Focuses on research that can broadly be applied to other diseases. 
    • Supports multiple programs focused on rare diseases through ORDR including NCATS Toolkit. 

Finding Disease and Technology Info

Searching for published medical articles, research projects, and clinical trials can help you locate information about the cause of your disease, the biological processes, available animal and cell disease models, and new technologies or therapeutic approaches. Try searching a few key resources, such as: 

• PubMed is a searchable database of published medical articles maintained by  NIH National Library of Medicine (NLM). Research studies about disease cause and pathology as well as promising novel and innovative approaches and technologies are usually published in medical journals, so you may be able to learn what is known about your disease or a bit more about a new technology by searching PubMed. Although not all of the articles are available for free online, most articles listed in PubMed have a summary (abstract) available.
  • Tips to help you locate articles focused on scientific research: 
    • Use “your disease” (or associated gene or protein if known) as your search term. 
      • Try using the disease term with and without quotation marks.
    • Replace the disease term with any synonyms if you are only finding a limited number of articles. 
    • Add terms such as “gene”, “etiology” (disease cause), “pathology” (disease process) or “treatment” to the main search term or use the advanced search feature to narrow your search results. 
      • You can join any added terms to the disease term or each other using “AND” between the terms. This will limit your search results to articles that contain all the listed terms.
  • Tips to help you understand the impact of a new technology on your disease:
    • Use the technology name or any synonyms as the search term.
      • If you know a disease it is currently being applied to, include the disease name in your search.
      • Many times press releases and even articles in the popular press will note one or more of the publishing researchers names or the actual title of the article, either of which can help in your search. 
    • Scan the published medical article summaries to determine whether the development is currently being:
      • Tested in cell and animal models or humans.
      • Investigated by more than 1 research team.
      • Applied to your disease(s) or a disease that has similar pathological pathways, signs, or symptoms.
      • Reported in a single case report, small study, or in larger studies.
  • If the article is not freely available, the NLM can help you find libraries in your area where you may be able to get the full text. You can search for libraries at National Network of Libraries of Medicine Members Directory . Or you can contact the NLM toll-free at 1-888-346-3656.
  • Alternatively, you can reach out to the contact author of the article and ask if they can provide a full copy to you. To find the contact information on articles found through PubMed, just click on the title in the search list to take you to the summary (abstract) view of the article. The contact information can be found by clicking the “+ expand” next to “Affiliations” just below the list of authors.
  • You can set up email alerts to be notified if new articles are published in a specific search area by simply clicking “Create alert” under the search bar above the listed search results. If you don’t have an account with NLM, the system will walk you through the process. Setting up an account is easy and free.
    • The NIH Library provides a bit more information, including a short video, if you need some help to set up or manage your PubMed alerts: Creating Alerts: PubMed
    • You can choose the frequency you will receive alerts and modify the search in the future.
  • PubMed Help provides answers to frequently asked questions and links to other tips that can help improve your search strategies and locate full text articles if one is not freely available. This resource is frequently updated by NLM.
• ClinicalTrials.gov was developed by NLM to provide the public with current information on clinical research studies. This resource will only list studies being performed in humans. You can search your disease to determine whether there are any current or past clinical trials or search a new technology to see whether it is or has been studied in clinical trials. Scan the listed clinical trials to determine:
  • Type of clinical trial (treatment or observational).
  • Phase of clinical trial.
  • Number of different centers involved. 
  • Sponsor.
  • Current activity status.
  • Type and number of diseases included in different trials involving the new technique or approach, if you are researching information about a new technology.
• CenterWatch is a Clinical Trial Listing Service, which provides a list of Institutional Review Board (IRB) -approved clinical trials being conducted internationally. Finding a new technique or approach being used in a clinical trial implies it has advanced to being studied in humans. Likewise finding any study including your disease can help you understand what is known about your disease as well as interested researchers or industry.
• Research Portfolio Online Reporting Tool (RePORTER) provides access to reports, data, and analyses of research activities at NIH, including the results of NIH-supported research. Although these projects do not usually involve humans, you may want to contact the investigators to learn more about their research, whether it is about your disease or a new technology. This can be a very helpful resource to learn if any cell or animal models are available or being developed for your disease and what aspects of your disease process or cause are being currently researched. To search for studies, enter the name of your disease (or associated gene or protein) or specific technique or approach  in the “Text Search” box and click “Submit Query”.
• In addition you may wish to reach out to the NIH ICs that focuses on research that either might apply to your disease(s) or a disease that is currently using the technique or approach. 

Genetic Therapies

Gene therapy, genome editing, RNA-based therapy, and cell therapy are several of the promising therapies making headlines in the popular press. These advanced biologic products have the potential to treat, and in some cases cure, many types of rare diseases and cancer. However, it can be hard to know if any have the possibility to treat your disease. You may wish to gain a basic understanding of these intriguing advances and then discuss their relevance to your disease with your Medical/Scientific Advisory Board and possibly experts in the respective therapy field.

• Gene therapy is a technique that modifies a person’s genetic material (DNA or RNA) to treat or cure a disease.
  • Gene therapy can replace, correct, or inactivate a disease-causing gene. It can introduce a new or modified gene. Gene therapy may also target RNA transcripts or messenger RNA (mRNA).
  • The FDA definition of gene therapy includes gene replacement therapy (such as adeno-associated virus gene therapy), genome editing (such as CRISPR-Cas9), RNA-based therapies (such as small interfering ribonucleic acid and antisense oligonucleotide), and cell-based gene therapy (such as CAR T-Cells) when these techniques are used in humans.
  • Gene therapy is being studied to treat diseases including cancer, genetic diseases, and infectious diseases.
  • Learn more about gene therapy:
    • FDA: What is Gene Therapy? Is a short webpage defining key terms used by medical researchers. 
    • FDA: Human Gene Therapy for Rare Diseases is a guidance document providing recommendations to sponsors developing human gene therapy products intended to treat a rare disease in adult and/or pediatric patients. The guidance includes recommendations regarding the manufacturing, preclinical, and clinical trial design issues for all phases of the clinical development program.
    • Global Genes offers video recording of sessions with expert panelists and a written web-based guide to gene therapy:
      • Global Genes LIVE!: Is Gene Therapy Right for Your Disease? (2020) is a 1 hour video recording of a session offered during their 2020 virtual Summit.
        • Reviews recent developments in gene therapy technologies.
        • Outlines what conditions and mutations are the best fit for these solutions
      • Global Genes LIVE!: Gene to Therapy: How Individualized Therapies Are Becoming Reality (2020) is also a 1 hour video recording of a session offered during their 2020 virtual Summit.
        • Shares case studies of the progress enabled by personalized medicine.
        • Discusses the risks and opportunities new technologies have created in this space as well as the hope personalized medicine brings for the future of rare disease.
      • Global Genes LIVE!: Harnessing the Power of New Genomic Frontiers (2020) is also a 1 hour video recording of a session offered during their 2020 virtual Summit.
        • Shares inspiring stories of leveraging new science to understand and treat rare diseases.
      • Global Genes RareToolkits: A Guide to Gene Therapy (2018) is a comprehensive introduction web-based guide to gene therapy.
        • Describes the basics of gene therapy, current challenges and future pursuits.
        • Provides links to more videos and other information resources at the end of the guide.
    • The National Organization for Rare Disorders (NORD) offers 5 RareEDU Webinars from 2019 to 2020 focused on gene therapy:
      • Gene Therapy: Yesterday, Today and Tomorrow
      • The Science Behind Gene Therapy
      • The FDA’s Role in Gene Therapy
      • Understanding the Gene Therapy Process and Aftercare
      • Life After Gene Therapy
• CRISPR-Cas gene editing system (CRIPSR) is just one type of genome editing, but is currently regarded as an editing technique that may be able to be treat or cure human genetic disorders. 
  • CRISPR-Cas gene editing system is composed of a short strand of RNA, often called guide RNA (gRNA), that is made to target a specific sequence of DNA. The gRNA strand is surrounded by short repeated sequences of RNA that act as scaffolding. The system is linked to an enzyme that is capable of cutting double-stranded DNA.
  • Currently CRISPR is most commonly used to make disease cell and animal models, but is also being explored as to perform rapid diagnosis and to correct disease causing genetic changes.
  • There are different CRISPR-Cas gene editing systems, including CRISPR-Cas9.
  • CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats.
  • Cas stands for CRISPR associated protein.
  • Learn more about genome editing and CRISPR-Cas9:
    • What is Genome Editing? is a short webpage by the the National Human Genome Research Institute (NHGRI) introducing CRISPR and also provides links to more in depth CRISPR topics at the bottom of the page. 
    • What are genome editing and CRISPR-Cas9? is a short webpage by MedlinePlus (from the National Library of Medicine) introduces genome editing in plain language and also provides links to other resources including published scientific journal articles focused on the topics.
    • What is CRISPR-Cas9? is a webpage by Wellcome Genome Campus YourGenome that provides basic information about CRISPR-Cas9 in easy to read bullet points and includes diagrams depicting the steps of genome editing.
• Chimeric Antigen Receptor T-Cells (CAR T-Cells) is a type of treatment in which a patient’s T cells (a type of immune system cell) are changed in the laboratory so they will attack cancer cells.
  • CAR T-Cells are made by adding a gene for a special receptor that binds to a certain protein on the patient’s cancer cells to the patient’s T cells harvested from their own blood. The special receptor is called a chimeric antigen receptor (CAR).
  • Large numbers of the CAR T cells are grown in the laboratory and given to the patient by infusion, enabling the a patient’s immune cells to fight their own cancer.
  • CAR T Cells: Engineering Patients’ Immune Cells to Treat Their Cancers is a webpage by the National Cancer Institute that provides an overview of the development of the CAR T-cell therapy as well as its expanding its use.

Disease Knowledge

Therapies may target the cause (etiology) of the disease. Therapies may also target a protein or other molecule involved in the biological paths that lead to symptoms of the disease (disease pathology). Therefore, it is important to understand what is known about your disease and what information may still be needed to provide an opportunity for a potential target to be chosen.

• Cause (etiology): One of the prime targets for researchers trying to develop a therapy is the cause of the disease.  At the molecular level, targets for therapies may include a specific gene, RNA, protein, changes in cell processes, and infectious organisms (bacteria, viruses, fungi, etc).  For example, if your disease has a genetic basis:
  • Is the causative gene known? 
  • Is there more than 1 gene involved? 
  • Is the function of the gene clear? 
  • Is it known in which cell types the gene is expressed? 
  • Is the expression of the gene different in different cell types or at different times during a person’s life? 
  • Are all the mutations that cause the disease known and characterized? 
  • Do all mutations causing the gene affect the gene in the same way, such as stopping the gene from being made into a functional protein? 
  • Can specific mutations predict severity of symptoms, age of onset, or progression? 
  • Can different mutations in the same gene cause different diseases? Are there other genes that may be involved in the variability and severity of the symptoms associated with your disease? 
• Disease process (pathology): Knowing the genetic changes or basic molecular change that can cause a disease does not necessarily mean researchers know how that change manifests in different symptoms and features associated with a disease. In fact, in some cases, the cause may not be well understood or may be a combination of genetic and environmental factors. In either case, the more that is known about the disease process, the more possible targets are available for the development of therapies. For example, if a protein is normally made from the causative gene: 
  • Is the function of the protein made from the gene understood?
  • Does the protein affect the expression of other genes?
  • Is the protein an enzyme in a biological pathway or multiple biological pathways?
  • What biological pathways are disrupted when the level or function of the protein made from the causative gene is changed?
  • Are there other biological processes involved in causing the symptoms and features associated with the disease?
  • Are any of the pathways or biological processes associated with other disease processes?
• Learn more: The beginning of the video presentation The 10 Things You Need to Pursue Research For Your Disease: What Are the Options for Research and Why is it so Hard? (2015) provides a quick overview of the type of research and research tools that lay the groundwork for  drug development for a rare disease .  The presenter is Brad Margus, who is both a parent of two children with a rare disease and a founder of a nonprofit patient group for that disease. Brad did not start out with a strong background in science and presents his advice for navigating the process of research for rare diseases in an empowering and practical manner. The presentation was taped at a Global Genes Advocacy Summit.

Tips for Success

• Scientists performing research to understand a disease process may be associated with the government, a university (academic institutions), a non-profit organization,or pharmaceutical industry.
• If you don’t have anyone with a scientific background in your group as staff or volunteers, consider hiring a graduate student, medical student, postdoc, or fellow who can do the literature search for you and report what they found in an understandable format. 
• Consult with your Scientific/Medical Advisory Board about which research or research tools may still be needed. Remember, not everything has to be known before the search for new treatments or a cure begins. 
• Developing more than 1 disease model may be necessary and optimal. Again, relying on your scientific and medical advisory board to evaluate this need rather than a researcher asking to be funded to do the research is important.
• Not all emerging therapeutic approaches or technologies will be applicable to your disease and popular press may exaggerate the readiness of a new development. Therefore you may want to review any new developments with your Scientific/Medical Advisory Board or talk to the leading medical researchers working on your disease(s).

Overview

The development of a therapeutic approach relies on a basic understanding of a disease process and certain research tools, so that researchers can identify targets and begin to develop potential therapies that can affect the disease process. Your group can support the early stages of therapy development by funding the early stages of disease research. Knowing the current understanding of your disease process and development of research tools can help you determine the type of research your group may consider supporting.

Additionally, the therapy development space is a dynamic, innovative field. New approaches and technologies are constantly under investigation. Knowing about these developments and discussing them with your Medical/Scientific Advisory Boards and the medical researchers working on your disease can help you understand whether any of the new technologies can be applied to your disease. However, it is also important to understand whether the approach or technology is ready to be applied to human diseases or is only in the initial stages of development.

Keeping Up with Advances

Keeping up with new therapeutic approaches and technologies can be time consuming. However, there are resources that provide summaries and announcements via newsletters or email alerts. Others have webpages that can be checked periodically. 

• Federal resources: The National Institutes of Health (NIH) and the FDA offer multiple ways to learn about new and emerging developments, including:
  • Free NIH Email Updates, which allow you to choose the news topic areas you would like sent to your email.  Topics under Science include:
    • Basic Research Information.
    • Biomedical Technology Information.
    • Clinical Research Information.
    • Data Science Information.
    • Genetics/Genomics Information.
    • Translational Research Information.
  • News & Events for Human Drugs is an FDA webpage that provides information about new developments.
    • You can also sign up for email alerts at What’s New Related to Drugs (CDER New) and other drug-related topics .
  • Preclinical Innovation and Core Technologies are NCATS webpages highlighting novel approaches to improve the process of joining basic science discoveries with initial testing of therapies in humans.
    • You can sign up for the monthly NCATS e-newsletter highlighting the latest translational science advances, research news, and upcoming events.
    • NCATS provides a way for subscribers to receive announcements about NCATS’ news releases, funding opportunities, events, program information, and more.
  • Accomplishments in Genomic Medicine is a website with a list of interesting advances in the realm of genomic medicine since 2011 compiled by the National Human Genome Research Institute (NHGRI) Genomic Medicine Working Group (GMWG).
    • GMWG published a recent paper in the American Journal of Human Genetics based on the notable accomplishments gathered from their list. It can be found at 2019 Genomic Medicine Year in Review .
  • News and Events from National Cancer Institute (NCI)-funded Research and Programs is an NCI webpage highlighting emerging and new approaches and technologies. 
  • Genomics and Precision Health Weekly Update is a Centers for Disease Control and Prevention (CDC) webpage highlighting CDC publications in genomics and precision health.
    • Features the latest information and publications on the public health impact of human genomics and family history, pathogen genomics and advanced molecular detection, machine learning and precision health technologies. 
    • Provides links to specific topics including gene therapy, proteomics, and rare diseases.
    • Sends  email updates (sign up is located in the box on the left side of the page, below the menu).
  • Check the website of the NIH Institutes and Centers (ICs) that includes research areas that may be applicable to your disease(s). Each IC offers options for learning about new developments, whether a webpage, news announcements, or newsletters. 
• Technology resources:
  • Pharmaceutical Research and Manufacturers of America (PhRMA) has several webpages that highlight new developments in the pharmaceutical industry. Although not directed to patient groups, this is one of the public websites of the industry written in plain language.
    • PhRMA represents some of the country’s leading innovative biopharmaceutical research companies, which are devoted to discovering and developing medicines. This is not a non-profit patient or disease group nor is it affiliated with a government agency.
    • PhRMA: Scientific Discoveries
    • PhRMA: Research and Development
• Other resources: Large umbrella disease and health organizations as well as innovative public-private partnerships offer webpages with updates, newsletters, webinars, and even in-person conferences that will enable you to learn about new and emerging techniques and developments. Such resources include: 
  • Global Genes is  a nonprofit rare disease group dedicated to connecting, empowering, and inspiring the rare disease community. Many of Global Genes resources and events provide updates on genomics, innovation, and drug development for rare disease research progress, including:
    • Latest News and Rare Daily , which provide links to short articles, interviews, and RareCasts (informative podcasts).
    • Event Hub lists upcoming webinars and conferences.
  • The National Organization for Rare Disorders (NORD) is a nonprofit patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them.  
    • You can Sign Up for Email Updates to learn about NORD events, news, and funding opportunities, including:
      • Medical Updates & Research News.
      • Monthly NORD E-Newsletter.
      • NORD Events.
      • NORD Webinar Series.
    • RareEDU Webinar Archive (2017 to present) is home to the NORD’s live, interactive webinars. Many of the topics of the webinars relate to therapy development including understanding the Orphan Drug Act, several about different aspects of gene therapy, and ways to engage with the FDA. 
  • EveryLife Foundation for Rare Diseases is a nonprofit, nonpartisan organization dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy. The Foundation holds yearly workshops on scientific advances.
    • Rare Disease Scientific Workshop brings together leading stakeholders from industry, academia, patient advocacy organizations and government.
      • Agendas and audiovisual recordings of previous workshops are available.
  • OrphaNews is a freely available, twice-monthly electronic newsletter presenting an overview of scientific and political news about rare diseases and orphan drugs. 
    • Produced by OrphaNet , the European information and resources database for rare and genetic diseases.
    • You can Subscribe to have the newsletter delivered to your email.
    • You can also read the latest or past editions directly on the website.

Research Tools

Certain research tools are developed to help scientists understand more about the disease process. Some of these same tools, along with others, are necessary to develop a therapeutic approach, determine whether a potential therapy can move forward to clinical trials, and monitor therapeutic effectiveness throughout clinical trials. It is important to understand which tools have been developed for your disease and which ones may be needed in the future. NCATS Toolkit provides more information and resources about these and other research tools as they relate to preclinical trials in Discovery: Understand Translational Research Tools

• Cell lines: Cell lines are developed from a single tissue type and are adapted to grow continuously in the laboratory. The research use of cell lines developed from specific patient populations includes:
  • Isolating the genetic cause of a disease.
  • Understanding gene function.
  • Understanding cellular processes that may be disrupted in the diseased state.
  • Testing drug metabolism and cytotoxicity.
• Disease models: A disease model is an animal or cell line displaying all or some of the pathological processes that are observed in the actual human disease. For most disease research, having more than 1 disease model is ideal. The research use of disease models includes:
  • Determining in which cell types or tissues a gene is expressed and when.
  • Exploring the function of the gene or its protein. 
  • Understanding the biological processes that lead to symptoms.
  • Studying how the disease develops.
  • Testing potential treatment approaches.
• Biomarker: Biomarkers are biological molecules found in blood, other body fluids, or tissues that are a sign of a normal or abnormal process or of a condition or disease. 
  • Biomarkers are useful as an indicator of change. Biomarkers may be used to:
    • Diagnose a disease.
    • Determine who is at risk to develop certain symptoms or complications.
    • Track disease progression.
    • Determine how well a person responds to a new medical therapy, including if certain subpopulations within the disease community respond better than others.
    • Serve as an end point of a study.
  • How Biomarkers Can Improve the Drug Development Process is a short slide set from the U.S. Food and Drug Administration (FDA) that provides a quick overview about biomarkers. 
• Patient information and data: Scientific, clinical, and patient databases can guide even early stages of thearpy development by providing information on multiple members of a disease community.  
  • Collected patient data can help researchers learn more about:
    • Causes and pathology of disease.
    • Clinical picture of a disease.
    • Unmet needs of patients.
    • Preferences of patient population.
  • NCATS Toolkit provides more information about different ways your group can help collect data in Discovery: Determine Patients’ Needs and Prepare for Clinical Trials: Perform Patient Preference Studies and highlights how information from these databases can be used throughout the therapy development process.
  • Rare Diseases Registry Program (RaDaR) was developed by the National Center for Advancing Translational Sciences (NCATS) to provide information tips and resources about the development of patient registries and natural history studies. RaDaR will help you collect data from your patient group that will be useful to therapy development for your disease and in a way that will allow researchers to use the data.

Starting a Patient Group

Although there are ways for patients to engage in different aspects of the therapy development process without belonging to a patient group, that is not the focus of NCATS Toolkit. In general the voice of a patient group offers clinicians, researchers, and industry a more diverse perspective and has a greater impact. If there is a patient group that already exists, working within the existing group can keep your disease community united, avoid duplication of efforts, and reduce competition for resources. If you are certain there is not an existing group that includes your disease, you may consider starting one.

• Social media groups: Today, many nonprofit patient groups for rare and genetic diseases begin as social media groups. Social media groups can quickly connect people/families who are affected by the same rare disease. 
  • If there is already a social media group, reach out to the administrators and moderators (on Facebook these can usually be found on the About page for the group) to see whether there is interest in forming a nonprofit with a mission to advance the development of medical therapies. 
  • If there is not a social media group, you may wish to start one. Using the disease name or associated gene in the title of the group can help others find it. 
  • Facebook has information about starting a group located at:
    • Group Basics
    • What are the privacy settings for groups?
• Forming a nonprofit: Once you have connected with other patients/families, you may want to see if anyone is interested in forming a nonprofit group. The tasks involved in forming a new group are best accomplished by having several people willing and able to dedicate the necessary time and effort. 
  • It may be a good idea to consider what roles you and the other members would like the group to fill. 
    • For example, a group’s mission may include:
      • Supporting research and medical therapy development.
      • Allowing families to connect and share resources.
      • Building a registry.
      • Establishing centers of excellence.
    • For more information about the many roles filled by support and advocacy groups, please see the GARD guide, Support for Patients and Families
  • The following resources can help you learn more about forming a nonprofit patient group:
    • Global Genes is a leading rare disease patient advocacy group whose mission is to “eliminate the challenges of rare disease.” Two of their toolkits are devoted to starting non-profit advocacy organizations:
      • So You Think You Want To Start A Nonprofit
      • Starting A Nonprofit: The First Steps
    • National Organization for Rare Disorders (NORD) is another leading  patient advocacy group dedicated to individuals with rare diseases and the organizations that serve them. They offer several resources for those considering starting a patient group.
      • Steps to Nonprofit Formation is a  review of the steps necessary to achieve 501(c)(3) nonprofit status. The guide also addresses frequently asked questions, such as the cost and time associated with establishing a disease foundation.
      • Nonprofit Resources is a list of resources to help provide information about managing, establishing, or finding nonprofit foundations. The resources include newsletters, nationally-based centers, and lists of charities.
    • The Foundation Group also has helpful information about starting a nonprofit, including an explanation about gaining 501(c)3 status including the benefits and limitations imposed by this status. The Foundation Group is a company however, not a nonprofit. 
      • What is a 501(c)3?

Making a Difference

Pharmaceutical companies and academic researchers are realizing that they need to start with the patient in mind in order to create a successful therapy. Although aligning the understanding of disease biology and the science of therapeutic approaches with patient needs seems self-evident, this realization is relatively newly accepted in the research community. However, this means that opportunities for patient group involvement now exist in each stage of therapy development and continues to grow. 

• Benefits of involvement:  When you are engaged in the entire therapy development process, you help make certain that potential therapies will address the needs of your disease community and will be more readily adopted. This can be achieved by:
  • Ensuring research on the cause and pathology of your disease is funded and that researchers have the necessary DNA/tissue samples and information needed.
  • Advising  Sponsors on their therapy development program including:
    • Identifying which symptoms patients deem are in the most need of a treatment.
    • Conveying what patients would look for in an ideal treatment based on their experiences with existing ones, for example, fewer or no side effects, less frequent administration, or different modes of administration.
    • Informing the design of clinical trials and the informed consent process
  • Helping identify or develop tools that assess the benefit of potential therapies, such as clinical outcome assessments (COAs).
  • Raising awareness and channel engagement within the patient community which, in turn, could increase registry and clinical trial participation. 
  • Supporting FDA staff in conducting patient preference studies for therapies under review by informing them what is important to your patient community.
• Resources to learn more: Partners in therapy development and the rare disease community have developed multiple resources that can help you understand more about both the importance of the disease community voice and ways in which you can begin to harness its power.  Although mainly focused on rare and genetic disease communities, the tips and strategies in the resources may be helpful to others as well.  
  • Global Genes , a nonprofit with the mission of connecting, empowering, and inspiring the rare disease community, provides several resources focused on the power of the patient voice and data.
    • From Molecules to Medicine: How Patients Can Share Their Voices Throughout the Drug Development Process (2018) provides information and case studies regarding areas where patients can be engaged to advance disease treatments. It includes information about forming communities, sharing data, and participating in clinical trials.
    • Data DIY – Your Involvement in Driving Understanding, Discovery, and Treatments for Rare Disease (2019–2020) is a 4-part webinar series focused on educating patient group leaders to become empowered data owners and stewards.
  • FDA Patient-Focused Drug Development Guidance Series for Enhancing the Incorporation of the Patient’s Voice in Medical Product Development and Regulatory Decision Making (2017 to 2021) is being developed by the FDA to address, in a stepwise manner, how stakeholders can collect and submit patient experience data, as well as other relevant data from patients and caregivers for therapy development and regulatory decision making.
  • FasterCures , a nonprofit, non-partisan think tank devoted to accelerating and improving the medical research system, has several resources focused on the patient voice.
    • Nonprofits: Innovators in Preclinical Drug Development (2019) is a webinar presenting innovative approaches by several patient groups to support the translation of a medical therapy from lab bench to clinical trials. 
    • FasterCures Webinars (2011 to present) lists the focus of other past webinars, several of which may also be of interest. 
    • From Anecdotal to Actionable: The Case for Patient Perspective Data (2015) is a fact sheet that highlights ideas for collecting and using patient input. It includes suggestions for types of data to collect and how to go about capturing it. This document also describes how the data can be used to inform research priorities and influence drug development.
    • FasterCures Patients Count Program is a set of initiatives aimed at improving health by promoting the integration of patient perspectives in the development of medical therapies and services. These initiatives include tips for navigating the legal landscape, a patient foundations directory to facilitate visibility among stakeholders, and a resource database to encourage patient engagement
    • On the Path to a Science of Patient Input (2016) is an article that assesses the progress and unmet needs associated with patient engagement in research and development. The paper includes information about current resources and initiatives in the area of patient engagement.
    • Innovator Spotlight (2011–2016) is an online platform containing Q&A’s with individuals from patient advocacy organizations regarding specific steps in the drug development process. These Q&As include best practices and resources for other patient advocacy groups. 
  • Discovery Documentary: First in Human (2017) is a 3-part video documentary capturing the real-life experiences of doctors, researchers, staff, patients and their caregivers, at the NIH Clinical Center. The documentary provides an in-depth look at the reality of experimental medicine in clinical trials.
  • Assessing Meaningful Engagement in Drug Development: A Definition, Framework, and Rubric is a summary of a 2015 Conference on Patient-Focused Drug Development. The document defines patient-focused drug development and includes a conceptual framework diagram. It also includes a rubric for evaluating the quality of patient engagement in drug development. The conference was organized by the University of Maryland Center of Excellence in Regulatory Science and Innovation.
  • Principles of Community Engagement: Second Edition (2011) is an online book that provides tools for those who are leading efforts to improve population health through community engagement. It includes a scientific literature review, key principles, and practical guidance for engaging partners with successful examples, management frameworks, social networking, and program evaluation. The book was developed as part of the work of the Clinical and Translational Science Awards (CTSA) Consortium’s Community Engagement Key Function Committee. CTSA is now a program within the NIH National Center for Advancing Translational Science.