Metabolic Screening in Patients With Donnai-Barrow Syndrome

November 21, 2022 updated by: Barbara R. Pober, Massachusetts General Hospital
This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

78

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02114
        • Massachusetts General Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Children/infants affected with Donnai-Barrow Syndrome

Description

Inclusion Criteria:

All individuals affected with Donnai-Barrow Syndrome

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Donnai-Barrow Syndrome (DBS)
Individuals affected with Donnai-Barrow Syndrome (DBS)
Unaffected
Healthy family members of individuals affected with Donnai-Barrow Syndrome (DBS)

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Massachusetts General Hospital

Investigators

  • Principal Investigator: Barbara Pober, MD, Massachusetts General Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

March 1, 2010

Primary Completion (Actual)

June 30, 2022

Study Completion (Actual)

June 30, 2022

Study Registration Dates

First Submitted

January 10, 2012

First Submitted That Met QC Criteria

January 11, 2012

First Posted (Estimate)

January 12, 2012

Study Record Updates

Last Update Posted (Actual)

November 22, 2022

Last Update Submitted That Met QC Criteria

November 21, 2022

Last Verified

November 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2009p001589

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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