Clinical Trial: Metabolic Screening in Patients With Donnai-Barrow Syndrome

Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Observational

Official Title: Metabolic Screening in Patients With Donnai-Barrow Syndrome

Brief Summary: This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).

Detailed Summary: 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.
Sponsor: Massachusetts General Hospital

Current Primary Outcome: measures of blood sugar, cholesterol, vitamins A and D, and other compounds [ Time Frame: 5 years ]

Original Primary Outcome: Vitamin A level

Measuring vitamin A and Retinol Binding Protein levels. Measuring other compounds taken up by LRP2.


Current Secondary Outcome:

Original Secondary Outcome:

Information By: Massachusetts General Hospital

Dates:
Date Received: January 10, 2012
Date Started: March 2010
Date Completion: January 2015
Last Updated: November 7, 2013
Last Verified: November 2013