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Metabolic Screening in Patients With Donnai-Barrow Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2013 by Massachusetts General Hospital
Information provided by (Responsible Party):
Barbara R. Pober, Massachusetts General Hospital Identifier:
First received: January 10, 2012
Last updated: November 7, 2013
Last verified: November 2013

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

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)
Donnai-Barrow Syndrome (DBS)
Individuals affected with Donnai-Barrow Syndrome (DBS)
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.


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

Children/infants affected with Donnai-Barrow Syndrome


Inclusion Criteria:

All individuals affected with Donnai-Barrow Syndrome

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01509287

Contact: Jessica Kim, BS 617-355-2555

United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
Contact: Jessica Kim, BS    617-355-2555   
Principal Investigator: Barbara Pober, MD         
Sponsors and Collaborators
Massachusetts General Hospital
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 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

Additional relevant MeSH terms:
Agenesis of Corpus Callosum
Hearing Loss, Sensorineural
Renal Tubular Transport, Inborn Errors
Congenital Abnormalities
Ear Diseases
Eye Diseases
Genetic Diseases, Inborn
Hearing Disorders
Hearing Loss
Kidney Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Nervous System Malformations
Neurologic Manifestations
Otorhinolaryngologic Diseases
Pathologic Processes
Pathological Conditions, Anatomical
Refractive Errors
Sensation Disorders
Signs and Symptoms
Urination Disorders
Urologic Diseases
Urological Manifestations processed this record on March 01, 2015