Metabolic Screening in Patients With Donnai-Barrow Syndrome
Completed
- Conditions
- Donnai-Barrow Syndrome
- Registration Number
- NCT01509287
- Lead Sponsor
- Massachusetts General Hospital
- Brief Summary
This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).
- Detailed Description
The purpose of this study is to better understand the role of certain nutrients and vitamins in promoting the healthy development of individuals with Donnai-Barrow Syndrome. The investigators hope that the information gained by studying the metabolism of children with Donnai-Barrow Syndrome and their family members will lead to significant advances in the treatment of this disease.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 78
Inclusion Criteria
All individuals affected with Donnai-Barrow Syndrome
Exclusion Criteria
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method measures of blood sugar, cholesterol, vitamins A and D, and other compounds 5 years
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Massachusetts General Hospital
🇺🇸Boston, Massachusetts, United States