Metabolic Screening in Patients With Donnai-Barrow Syndrome

Mass General Brigham

Status: Completed

Conditions: Donnai-Barrow Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT01509287

2009p001589

Details and patient eligibility

About

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

Full 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.

Enrollment: 78 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

All individuals affected with Donnai-Barrow Syndrome

Trial design

78 participants in 2 patient groups

Donnai-Barrow Syndrome (DBS)

Description:

Individuals affected with Donnai-Barrow Syndrome (DBS)

Unaffected

Description:

Healthy family members of individuals affected with Donnai-Barrow Syndrome (DBS)