Trial Now Recruiting: Gene Discovery Core, The Manton Center (NCT02743845)

WHY IT MATTERS

If your family has been searching for answers about a rare or undiagnosed genetic condition, this study could help identify what's causing it and contribute to better treatments for others with the same disease.

Boston Children's Hospital is looking for 10,000 families with rare genetic diseases that haven't been diagnosed or fully understood yet. Researchers will study the genes and proteins in these families to figure out what's causing their conditions. The goal is to help doctors diagnose and treat rare diseases better in the future.

NCT ID: NCT02743845 Status: RECRUITING Conditions: Undiagnosed Conditions, Rare Disorders, Orphan Diseases Enrollment: 10000 Sponsor: Boston Children's Hospital Summary: The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions. The primary goal of the research is to better understand the genes and proteins (gene products) involved in rare diseases. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with rare disease in the future. Individuals with any rare/undiagnosed

YOU CAN ACT ON THIS

If you or a family member has an undiagnosed or rare genetic condition, visit clinicaltrials.gov (NCT02743845) to see if you qualify and how to contact Boston Children's Hospital to enroll.