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OpenTrials
Completed

NCT Number: NCT01509287

Metabolic Screening in Patients With Donnai-Barrow Syndrome

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

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Key information

Sex eligibility

All sexes

Study type

Observational

Primary location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

All individuals affected with Donnai-Barrow Syndrome

Treatment and study plan

Primary outcomes

  1. measures of blood sugar, cholesterol, vitamins A and D, and other compounds

    Time frame: 5 years

Sponsors and collaborators

Lead sponsor

Massachusetts General Hospital

Other

Registry information

Important dates

Study start
2010
Primary completion
2022
Study completion
2022
First posted
Jan 12, 2012
Registry last updated
Nov 22, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.