Metabolic Screening in Patients With Donnai-Barrow Syndrome

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01509287

Enrollment

Registered

2012-01-12

Start date

2010-03-31

Completion date

2022-06-30

Last updated

2022-11-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Donnai-Barrow Syndrome

Keywords

Donnai-Barrow Syndrome (DBS), metabolic testing, genes, genetic

Brief summary

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

Detailed 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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

Inclusion criteria

All individuals affected with Donnai-Barrow Syndrome

Design outcomes

Primary

Measure	Time frame
measures of blood sugar, cholesterol, vitamins A and D, and other compounds	5 years

Countries

United States

Outcome results