Metabolic Screening in Patients With Donnai-Barrow Syndrome

Donnai-Barrow Syndrome Clinical Trial

Official title:

Metabolic Screening in Patients With Donnai-Barrow Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01509287
• Other study ID #: 2009p001589
• Status: Completed
• Start date: March 2010
• Est. completion date: June 30, 2022

Study information

• Verified date: November 2022
• Source: Massachusetts General Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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 information / eligibility

• Status: Completed
• Enrollment: 78
• Est. completion date: June 30, 2022
• Est. primary completion date: June 30, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

All individuals affected with Donnai-Barrow Syndrome

Related Conditions & MeSH terms

• Donnai-Barrow Syndrome
• Hearing Loss, Sensorineural
• Hernias, Diaphragmatic, Congenital
• Myopia
• Proteinuria
• Syndrome

Locations

Country	Name	City	State
United States	Massachusetts General Hospital	Boston	Massachusetts

Sponsors (1)

Lead Sponsor	Collaborator
Massachusetts General Hospital

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	measures of blood sugar, cholesterol, vitamins A and D, and other compounds		5 years