Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...

Metabolic Screening in Patients With Donnai-Barrow Syndrome

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified November 2013 by Massachusetts General Hospital.
Recruitment status was:  Recruiting
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 ]

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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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

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

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

Additional relevant MeSH terms:
Hearing Loss, Sensorineural
Renal Tubular Transport, Inborn Errors
Agenesis of Corpus Callosum
Hernias, Diaphragmatic, Congenital
Pathologic Processes
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
Kidney Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Nervous System Malformations
Congenital Abnormalities
Pathological Conditions, Anatomical
Hernia, Diaphragmatic processed this record on April 24, 2017