Metabolic Screening in Patients With Donnai-Barrow Syndrome

This study is currently recruiting participants.
Verified November 2013 by Massachusetts General Hospital
Sponsor:
Information provided by (Responsible Party):
Barbara R. Pober, Massachusetts General Hospital
ClinicalTrials.gov Identifier:
NCT01509287
First received: January 10, 2012
Last updated: November 7, 2013
Last verified: November 2013
  Purpose

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


Condition
Donnai-Barrow Syndrome

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Metabolic Screening in Patients With Donnai-Barrow Syndrome

Resource links provided by NLM:


Further study details as provided by Massachusetts General Hospital:

Primary Outcome Measures:
  • measures of blood sugar, cholesterol, vitamins A and D, and other compounds [ Time Frame: 5 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

whole blood, saliva, urine


Estimated Enrollment: 70
Study Start Date: March 2010
Estimated Study Completion Date: January 2015
Estimated Primary Completion Date: January 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
Donnai-Barrow Syndrome (DBS)
Individuals affected with Donnai-Barrow Syndrome (DBS)
Unaffected
Healthy family members of individuals affected with 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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Children/infants affected with Donnai-Barrow Syndrome

Criteria

Inclusion Criteria:

All individuals affected with Donnai-Barrow Syndrome

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01509287

Contacts
Contact: Jessica Kim, BS 617-355-2555 jessica.kim2@childrens.harvard.edu

Locations
United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
Contact: Jessica Kim, BS    617-355-2555    jessica.kim2@childrens.harvard.edu   
Principal Investigator: Barbara Pober, MD         
Sponsors and Collaborators
Massachusetts General Hospital
Investigators
Principal Investigator: Barbara Pober, MD Massachusetts General Hospital
  More Information

No publications provided

Responsible Party: Barbara R. Pober, Principal Investigator and Clinical Geneticist, Massachusetts General Hospital
ClinicalTrials.gov Identifier: NCT01509287     History of Changes
Other Study ID Numbers: 2009p001589
Study First Received: January 10, 2012
Last Updated: November 7, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Massachusetts General Hospital:
Donnai-Barrow Syndrome (DBS)
metabolic testing
genes
genetic

Additional relevant MeSH terms:
Hearing Loss, Sensorineural
Myopia
Proteinuria
Hearing Loss
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Refractive Errors
Eye Diseases
Urination Disorders
Urologic Diseases
Urological Manifestations

ClinicalTrials.gov processed this record on April 15, 2014