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Learn about Research

Participate in Research

Stay Informed and Get Involved

Engaging in Research Efforts

Research Advances Our Clinical Understanding of a Disease

Research Can Lead to the Discovery of New Diagnostics and Treatments

Patient Involvement is Key to Advancing Research

Research is Important for Rare Diseases

Rare disease research is needed to advance medical knowledge. Research can clarify the common symptoms of a disease and the course of the disease. It can also lead to a quicker diagnosis or improved treatment and medical care. It may even contribute to discoveries related to more common diseases.

Participate in Research

Joining a Clinical Study

Clinical studies include all research that involves people either through direct interaction or through the collection and analysis of blood, tissues, or other samples. Clinical trials are clinical studies involving participants who are assigned to an intervention, procedure, or potential treatment. They evaluate the effect of the intervention on the participant. It is important to review all aspects of the clinical study when making a decision about whether to participate.

Reasons to Participate in Clinical Studies

Clinical studies can benefit participants, the medical field, and the rare disease community in multiple ways.

A person may decide to participate in clinical studies because clinical studies often provide:

An opportunity to contribute information leading to a better understanding of their rare disease.
Advancements in medical knowledge for other rare diseases and more common diseases.
New ways to prevent, diagnose, and treat diseases.
Improved health care and quality of life for people who currently have a disease and for those who may develop a disease in the future.
An opportunity to access cutting edge research treatment before it is widely available to others and to receive medical care from knowledgeable providers.
Hope for current and future patients and a sense of accomplishment for actively playing a vital role in the progress of research.

Information to Consider Before Joining a Clinical Study

Understanding as much as possible about participating in clinical studies is key to making an informed decision.

Before joining a clinical study, it is important to understand that:

Participating in a clinical study is entirely voluntary. Participants do not have to start or finish a study
An Institutional Review Board (IRB) approves and monitors most studies in the U.S. to ensure that guidelines are followed, the study is ethical, and the participants’ rights and safety are protected
Clinical studies may involve some risks. It is important to understand these potential risks and the chance of harm occurring
All information obtained in the study is confidential
In many treatment studies, a participant may be randomly assigned to receive a placebo (a harmless, inactive substitute)
Even in studies involving treatments, a participant’s disease and symptoms may not improve, and there is a possibility they may get worse

How do you find the right clinical study?

Current clinical studies can be found by using ClinicalTrials.gov (see below). Doctors, other trusted medical professionals, and patient organizations may also be aware of studies.

To determine whether a study may be appropriate:

Discuss the clinical study with a trusted medical provider before enrolling
Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
Ask questions. Remember, it is okay to decide not to participate in research

For more information:

Clinical Research & You [NIH]

Provides information about clinical trials, participating in clinical trials, and finding clinical trials. Extra sections include personal stories by clinical trial participants and enrolling children in clinical trials.

Clinical Trials - What Patients Need to Know [FDA]

Offers information about specific topics related to participating in clinical trials, including the difference between clinical research and medical treatment, different types of clinical trials, and informed consent.

Search ClinicalTrials.gov

We strongly recommend talking to a trusted doctor before choosing to participate in any clinical study. Not all diseases will have an active clinical study.

Search ClinicalTrials.gov for this disease

NIH - National Center for Advancing Translational Sciences - GARD Genetic and Rare Diseases Information Center

Get in touch with us for help.

1-888-205-2311

GARD provides general information about rare diseases and clinical studies. We are unable to make a diagnosis or to give personal medical advice.

Staying informed about research efforts can help patients and families make better medical decisions. Learning about different ways to become involved in research provides options for patients and families to join efforts outside of clinical studies.

The following resources can be used to stay informed about new treatments and research results related to a rare disease:

PubMed
PubMed is a database of published research articles. To find published results, try searching PubMed using the name of the rare disease. To find results from a specific research study, use the lead researcher’s name and key words from the study as search terms. Results from completed studies may take several years to publish.

ClinicalTrials.gov
Periodically checking in ClinicalTrials.gov for clinical studies testing new treatments provides a way to stay informed about new therapies that may be available in the future. The most promising treatments will progress to Phase 3 studies.

ClinicalTrials.gov requires the results of certain types of studies to be entered into the Results Database. This is normally completed within one year of completion of the study. Results entered in the database can be found in the Study Results tab of the study.

Patient and Disease Organizations
Patient and rare disease organizations may list summaries of research efforts supported by the organization or relevant to their disease(s).

Many organizations have a section of their website devoted to research news and updates. This may include a list recently published research papers; a summary of the findings; items from the popular press; and information about funded researchers, members of their scientific advisory board, or the pharmaceutical industry.

The following resources can be used to stay informed about current and future clinical studies related to a rare disease:

ClinicalTrials.gov
Periodically checking ClinicalTrials.gov for current or future clinical studies provides a way to stay informed about research efforts associated with a rare disease.

Patient and Disease Organizations
Patient and rare disease organizations may choose to list clinical studies that focus on the disease(s) they support. They may even support recruitment efforts for some clinical studies. Contact the organization directly to learn more about their policies.

The following resources can be used to stay informed about available research funding and researchers investigating a rare disease:

Patient and Disease Organizations
Many patient and rare disease organizations offer grants to help fund research efforts for their disease(s). The organization’s website may have a research tab that lists grant opportunities, descriptions of funded projects, names of researchers or institutions doing research on the disease, and updates on research studies.

ClinicalTrials.gov
Principal investigators (PIs) of a current clinical study focused on a disease may be performing research outside of the study. If they are associated with a university, the researcher may have a biography or research lab webpage describing more about their research efforts on the university website.

Identifying the Sponsor of a clinical study can lead to a university, NIH Institute, or pharmaceutical company that may have other research efforts focused on the same or related disease.

Many patient organizations offer ways to share personal stories about living with a rare disease. Opportunities may include posting stories on their website or sharing through social media or at events and conferences. Personal stories can educate the medical and research communities. Personal stories can also help policy makers learn more about how policies may affect those living with rare diseases.

A patient registry is a database that collects and stores information about patients who have specific diseases. Some registries collect only basic information to connect interested patients with clinical studies. Others collect medical information that can help doctors and researchers learn more about the disease.

RareShare

Provides a registry as an online social hub dedicated to patients, families and healthcare professionals who are affected by rare diseases.

RareConnect

Hosts an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

ResearchMatch

Connects participants (including people with genetic and rare diseases) and researchers. Anyone from the United States, including Puerto Rico, can register with ResearchMatch for free. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria. This registry is maintained by Vanderbilt University Medical Center and is funded in part by the National Institutes of Health (NIH) Clinical and Translational Science Award (CTSA).

The ClinGen Patient Portal [GenomeConnect]

Allows an adult or parent/guardian of a child to upload genetic test results into a system that connects with a larger medical database. Using this data, researchers can learn how genetic changes in a specific gene can affect different people. Participants are notified when new research on that specific genetic change is available. Connecting to other patients and families who share a similar genetic change is an option.

Coordination of Rare Diseases at Sanford (CoRDS)

Serves as a centralized international patient registry for all rare diseases. The registry's goal is to connect patients and researchers to help advance treatments and cures for rare diseases. The CoRDS registry is free for patients to enroll and for researchers to access.

RareShare

Provides a registry as an online social hub dedicated to patients, families and healthcare professionals who are affected by rare diseases.

RareConnect

ResearchMatch

The ClinGen Patient Portal [GenomeConnect]

Coordination of Rare Diseases at Sanford (CoRDS)

Joining a patient organization can offer many ways to advocate for or become involved in research, but sometimes, no patient organization exists. Social media offers a way to find other patients and families impacted by a rare disease. As the community grows, some members may consider taking the next step to form an official non-profit patient organization.

Engaging in Research Efforts

NCATS Toolkit for Patient-Focused Therapy Development

NCATS Toolkit for Patient-Focused Therapy Development provides information to help patient groups support the process of developing a treatment or cure for their disease(s). The goal is to ensure that patient groups can engage as partners in every step of the therapy development process.

Start a Patient Organization

Find information and resources that can help in the early stages of forming a patient organization

Understand the Research and Development Process

Learn about the stages of research and development needed to develop new therapies for a rare disease

Determine Patients' Needs

Understand ways to gather patient and disease data to inform the therapy development process

Visit Toolkit site for more information

NCATS Rare Diseases Registry Program (RaDaR)

RaDaR provides guidance for setting up and maintaining high-quality registries that are based on best practices and data standards. The goal is to support the collection of patient information that can be used in developing treatments for rare diseases.