NCATS Toolkit is a website that provides rare disease patient group leaders, like you, with reliable information about the stages of the therapy development process and the ways your group can become involved. The ultimate goal is to help your group become a driving force behind the development of therapies and/or a cure for your disease(s).

In fact, of the 7,000-plus recognized rare diseases, only about 5% have a U.S. Food and Drug Administration (FDA) approved treatment. Involving the patient voice into the therapy development process is recognized by the FDA, researchers, and pharmaceutical industry as a way to increase the pace of therapy development for rare diseases.

Getting Started provides information that can help a patient group become involved in the therapy development process. The remaining sections provide a more in-depth look into the different stages of treatment development, including what happens after a therapy is approved by the FDA. The tips and strategies in these sections highlight ways patient groups, like your own, can add vital information and resources to the process. You may also find the NCATS Toolkit Glossary helpful.

The organization of NCATS Toolkit may make the process of therapy development seem like a series of steps to be followed one after the other, but it is not a straight line from start to finish. In fact, at any given time, different potential therapies for your disease may be at different stages of development. Restarting the process is not uncommon, as not every promising therapy is found to be safe and effective. In addition, not every task or research tool will be needed for every disease. Therefore, we suggest skimming through the website to decide which areas may be important to the development of a therapy for your disease, and then reading those sections and their listed resources in depth.

NCATS Toolkit is solely an information website and is not involved in research.

NCATS Toolkit focuses on patient groups, and the tips and strategies were written with patient group leaders in mind. However, the information about how a therapy is developed for a rare disease may be helpful to any person or family affected by a rare disease. 

If you are a patient who has a genetic or rare disease or a family member or caregiver and would like to support the efforts for the development of a therapy for your disease, NCATS Toolkit has two topic areas that can help get you started: “Finding a Group” and “Starting a Patient Group.” 

In addition, NCATS has another program, the Genetic and Rare Diseases Information Center (GARD), that is directed towards individuals, families, and caregivers: About GARD. The GARD website provides access to information about rare or genetic diseases. If you can’t find the information you need on the GARD website, you may contact a GARD Information Specialist who can direct you to disease information, research studies, clinical trials, patient advocacy organizations (supportive resources), medical journal articles, and genetic services.

The resources on NCATS Toolkit are collected from rare disease patient groups, academia, industry, and government agencies, such as the National Institutes of Health (NIH) and the FDA. The content is developed using the listed resources for that topic area and by engaging with key stakeholders at conferences and through one-on-one meetings and informal conversations. 

The information and resources in NCATS Toolkit are intended to help you better target your conversations and efforts. NCATS Toolkit is not intended to replace talking with your own Board of Directors and Medical/Scientific Advisory Boards, other patient group leaders, rare disease umbrella organizations, the FDA, researchers, industry, and other stakeholders. 

NCATS Toolkit welcomes your group to submit resources that you found helpful at any stage of the therapy development process through the Contact Form for the Genetic and Rare Diseases (GARD) Information Center.

You may wish to share templates your group developed, such as a template for meeting agendas. Or maybe your group developed a checklist to use to review clinical trials or contracts with industry. Even if you are concerned the resources you developed might only be helpful to your group, we may be able to adapt the template or checklist for wider use.

Resources are evaluated on a scale of 1 to 4 (with 4 being the best) based on 9 criteria. Any resource scoring a 1 or 2 on any of the criteria will be considered further only if it addresses relevant information not available elsewhere. 

The 9 resource criteria for source inclusion are: 

1. Promotes research activities along therapy development continuum or development of registries.
2. Educational content educational that does not promote a product or service.
3. Applicable to target audience (leaders of rare disease patient groups).
4. Current information.
5. Clear, concise language.
6. Freely available information (not behind a paywall). 
7. Authors of the content are listed and have relevant qualifications/experience.
8. The site is consistently available, without frequent technical difficulties.
9. Helps target audience advance toward the goal of therapy development or building and maintaining a registry.

For more information on the grading scale, please request the information through the Contact Form for the Genetic and Rare Diseases (GARD) Information Center.

NCATS Toolkit was created in response to requests from rare disease patient groups to develop a resource repository to help other patient groups become more involved in the therapy development process. Leading a working group of NCATS staff and various patient groups for nearly two years, NCATS Toolkit co-chairs Ronald J. Bartek ( co-founder of the Friedreich’s Ataxia Research Alliance) and Annie Kennedy (senior vice president of legislation and public policy for Parent Project Muscular Dystrophy) identified and evaluated existing resources. The original NCATS Toolkit was launched September 8, 2017.

In 2019, in response to feedback from patient groups, content and resources were added and the website was restructured. NCATS Toolkit was relaunched on Rare Disease Day 2020.

The role of the patient groups in therapy development continues to expand. NCATS Toolkit is meant to be a living website that will add new content as it becomes available and as the therapy development process adapts to scientific advancements and regulatory changes.

Dr. Eric Sid oversees the NCATS Toolkit management and development team. 

Eric Sid, MD, MHA
Program Officer
National Institutes of Health
NCATS Office of Rare Diseases Research
E-mail: [email protected]