Participating in a research study or clinical trial can at times be another option when searching for a diagnosis. Some research studies look at general categories of diseases and will enroll undiagnosed individuals to make a diagnosis. Alternatively, clinical trials or studies may be looking at the effectiveness of medications to treat specific symptoms. The National Library of Medicine at the National Institutes of Health has developed ClinicalTrials.gov, a database accessible to the public through the Web. This database provides patients, family members and members of the public with current information on clinical research studies. For example, the study entitled “Studies of Children with Metabolic and Other Genetic Diseases” evaluates individuals of all ages (despite its title) with known or suspected genetic diseases. You can read about this study by going to Studies of Children with Metabolic and Other Genetic Diseases.
If you find a clinical trial on this Web site that takes place at the National Institutes of Health, or if you want to know if there might be a clinical trial that fits your needs, you can call the NIH Clinical Center and talk to a specialist.
Patient Recruitment and Public Liaison Office
NIH Clinical Center
National Institutes of Health
Bethesda, Maryland 20892-2655
Toll-free:( 800) 411-1222
Fax: (301) 480-9793
If you do receive a specific diagnosis in the future, you can search for additional studies by going to the link and using the name of the diagnosis as your search term. Studies take place at the National Institutes of Health in Bethesda, Maryland, or at research institutions elsewhere. You can use the study’s location and contact information to learn more. You can also check this site for regular updates: ClinicalTrials.gov