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Metabolic Screening in Patients With Donnai-Barrow Syndrome

Sponsor
Massachusetts General Hospital (Other)
Overall Status
Unknown status
CT.gov ID
NCT01509287
Collaborator
(none)
70
Enrollment
1
Location
58.1
Duration (Months)
1.2
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Anticipated Enrollment :
    70 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Cross-Sectional
    Official Title:
    Metabolic Screening in Patients With Donnai-Barrow Syndrome
    Study Start Date :
    Mar 1, 2010
    Anticipated Primary Completion Date :
    Jan 1, 2015
    Anticipated Study Completion Date :
    Jan 1, 2015

    Arms and Interventions

    Arm Intervention/Treatment
    Donnai-Barrow Syndrome (DBS)

    Individuals affected with Donnai-Barrow Syndrome (DBS)
    Unaffected

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

    Outcome Measures

    Primary Outcome Measures

    1. measures of blood sugar, cholesterol, vitamins A and D, and other compounds [5 years]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    Inclusion Criteria:

    All individuals affected with Donnai-Barrow Syndrome

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Massachusetts General Hospital Boston Massachusetts United States 02114

    Sponsors and Collaborators

    • Massachusetts General Hospital

    Investigators

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

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Barbara R. Pober, Principal Investigator and Clinical Geneticist, Massachusetts General Hospital
    ClinicalTrials.gov Identifier:
    NCT01509287
    Other Study ID Numbers:
    • 2009p001589
    First Posted:
    Jan 12, 2012
    Last Update Posted:
    Nov 8, 2013
    Last Verified:
    Nov 1, 2013
    Keywords provided by Barbara R. Pober, Principal Investigator and Clinical Geneticist, Massachusetts General Hospital
    Donnai-Barrow Syndrome (DBS)
    metabolic testing
    genes
    genetic
    Additional relevant MeSH terms:
    Hearing Loss, Sensorineural
    Agenesis of Corpus Callosum
    Myopia
    Proteinuria
    Renal Tubular Transport, Inborn Errors
    Hernias, Diaphragmatic, Congenital
    Syndrome

    Study Results

    No Results Posted as of Nov 8, 2013