Trial Now Recruiting: Genetic Analysis of Uncommon Disease Presentations in Non-US Populations (NCT06595940)
WHY IT MATTERS
This trial focuses on underserved populations outside the US with limited access to genetic testing, potentially identifying new disease-causing genes that could lead to diagnoses for patients who have remained undiagnosed despite extensive medical evaluation.
Researchers are looking for genetic causes of rare and unusual diseases in people living outside the United States who haven't had access to genetic testing. They're using new, powerful tools to study the DNA of about 400 people to find out what's causing their diseases. This study could help doctors understand and diagnose rare conditions that are hard to figure out.
NCT ID: NCT06595940 Status: RECRUITING Conditions: Undiagnosed Diseases, Rare Diseases Enrollment: 400 Sponsor: National Human Genome Research Institute (NHGRI) Summary: Background: Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. They will focus on people who live outside of the United States and whose access to genetic testing has been limited. Objective: To look for potential genetic sources of diseases among childr
YOU CAN ACT ON THIS
If you or a family member have an undiagnosed rare disease and live outside the US, check if you meet eligibility criteria and contact the study team at clinicaltrials.gov using NCT06595940 to inquire about enrollment.