Reports about clinical research study results are often in the news, but it can be difficult to find out about studies that are in progress. If you or a loved one has a rare condition, you may be interested in participating in a research study. This guide can help you find current research studies.
Where can I learn about clinical research studies? A good place to start is on the National Institutes of Health (NIH) resource page, The Basics: NIH Clinical Research Trials and You. This article will help you understand the different types of studies and the process of informed consent. It also explains what to consider as you look for a study. More information on participating in research can be found at the following sites:
How can I find a clinical research study for a rare disease? The following websites are a great place to look for studies. Start your search using the name of your condition. If you don’t find studies, try using a different name for your condition. You can also search using words that describe the condition, such as “inflammatory skin” or “genetic neuromuscular.” If you aren’t sure which search terms to use, try using words that you see when you read about your condition. You can also search for a type of treatment, like “stem cell” or “gene therapy.”
ClinicalTrials.gov is an NIH website that has information on publicly and privately funded clinical studies in the United States and other countries.
The Rare Diseases Clinical Research Network (RDCRN) is made up of 22 research consortia to advance medical research on rare diseases. This network of physician scientists and their multidisciplinary teams work with patient advocacy groups to study more than 200 rare diseases at sites across the United States. This initiative is funded by the National Center for Advancing Translational Sciences (NCATS) at the NIH.
The Centers for Mendelian Genomics is an NIH-funded research effort to find the causes of rare genetic disorders. To participate, ask your healthcare professional to contact the Center at gmendel@mendelian.org.
Orphanet is a European database for rare diseases and is a resource for learning about clinical trials and research studies.
CenterWatch is a searchable database of domestic and international clinical trials and research center profiles.
In addition to these sites, we suggest that you contact advocacy groups to learn more about research. Check the GARD disease pages to see if organizations are listed for your condition. If you cannot find studies after searching these sites, please contact a GARD Information Specialist.
Will I have to travel to participate in a clinical research study? Some studies require participants to travel to a research center for evaluation or treatment. Other studies involve completing surveys or collecting a sample that can be sent through the mail.
See our guide called Help with Travel Costs for resources that offer financial assistance for transportation and lodging.
How can I learn about future studies?
You can sign up to receive alerts about new research studies at many of the resources listed above. Another option is to join a patient registry where you can provide your contact information and details about your health. Patient registries help researchers plan new studies and find people who might want to participate. They are important for research because it can be difficult for researchers to find participants with rare diseases.
Where can I find a patient registry for a rare disease? Start your search by contacting support and advocacy groups. Check the GARD disease pages to see if any organizations are listed for your condition. The following tools can help you find patient registries.
GenomeConnect is a patient registry that offers a secure place for you to privately share your genetic test results and health information with researchers, clinicians, and the scientific community. The registry aims to speed discovery regarding genetic changes and health.
The Rare Diseases Clinical Research Network (RDCRN) has a contact registry to keep you informed about RDCRN research opportunities as they become available. You can also receive updates on the progress of current research projects.
The Coordination of Rare Diseases at Sanford (CoRDS) registry is a centralized international patient registry for all rare diseases. The goal of the CoRDS registry is to connect patients and researchers to help advance treatments and cures for rare diseases.
The Registry of Patient Registries was created by the Agency for Healthcare Research and Quality to pool information about registry opportunities.
ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. ResearchMatch was developed by major academic institutions across the country and is funded by NCATS at the NIH.
Can I donate tissue samples or organs for rare disease research? A biobank or biorepository allows you to submit tissue and blood samples that can be used by researchers. Some biobanks are coordinated by researchers and others are maintained by advocacy organizations. Try the following resources when searching for a place to submit tissue samples.
Contact a disease advocacy organization to see if a biobank exists for your specific rare disease.
The National Rare Disease Biospecimen Resource is a service of the National Disease Research Interchange (NDRI). This resource provides researchers with organs, tissues, blood, and DNA or cell lines donated from people with rare diseases. For more information call 1-800-222-NDRI.
The Cancer Genome Atlas (TCGA) is a collaboration of researchers who use tissue donations to improve the detection, diagnosis, and treatment of cancer. To learn how to participate, your doctor can email the TCGA Program Office at tcga@mail.nih.gov. More information on tissue donation for cancer research is available through the National Cancer Institute.
ClinicalTrials.gov lists many opportunities for tissue donation. View a sample search for tissue banks. After you click on a tissue bank, review the "eligibility" criteria to see if it is right for you. Use the study’s contact information to learn more.
The Coriell Institute for Medical Research has established the Coriell Cell Repositories to provide cell lines and DNA samples to research scientists around the world. These collections are supported by funds from the NIH.
The Stanford Neuromuscular Biobank coordinates the collection, preservation, and sharing of samples for research on neuromuscular disorders.
