Gene discovery for rare and undiagnosed genetic conditions
Gene Discovery Core, The Manton Center
This study is trying to find the genetic causes of rare and undiagnosed conditions by collecting DNA and medical information from affected families to improve diagnosis and treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 10000 (estimated) |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT02743845 on ClinicalTrials.gov |
What this trial studies
The Gene Discovery Core at The Manton Center for Orphan Disease Research focuses on families with rare and poorly understood genetic conditions. Participants provide DNA and tissue samples, along with medical records, to facilitate genomic sequencing and analysis aimed at identifying genetic causes of their conditions. The study seeks to enhance understanding of the genes involved in rare diseases, ultimately improving diagnosis and treatment options for affected individuals. Enrollment is open to individuals with any rare or undiagnosed condition, and results are communicated through healthcare providers after confirmation.
Who should consider this trial
Good fit: Ideal candidates include individuals with known or uncertain rare diagnoses that may have a genetic component, as well as their family members.
Not a fit: Patients without a rare or undiagnosed condition, or those not related to someone with such a diagnosis, may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with rare genetic disorders.
How similar studies have performed: Other studies focusing on genomic sequencing for rare diseases have shown promise, indicating potential success for this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Having a known or uncertain rare diagnosis which may have a poorly understood genetic component and/or be a relative to a person with such a diagnosis Exclusion Criteria: * Not having such a diagnosis and/or not being related to such an individual
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Study coordinator: Katie Anderson, MS, CGC
- Email: gdc@childrens.harvard.edu
- Phone: 617-919-4287
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.