Metabolic Screening in Patients With Donnai-Barrow Syndrome

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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)

Trial contacts and locations

0

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Data sourced from clinicaltrials.gov

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