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Metabolic Screening in Patients With Donnai-Barrow Syndrome

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ClinicalTrials.gov Identifier: NCT01509287
Recruitment Status : Unknown
Verified November 2013 by Barbara R. Pober, Massachusetts General Hospital.
Recruitment status was:  Recruiting
First Posted : January 12, 2012
Last Update Posted : November 8, 2013
Sponsor:
Information provided by (Responsible Party):
Barbara R. Pober, Massachusetts General Hospital

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

Condition or disease
Donnai-Barrow Syndrome

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
Estimated Enrollment : 70 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Metabolic Screening in Patients With Donnai-Barrow Syndrome
Study Start Date : March 2010
Estimated Primary Completion Date : January 2015
Estimated Study Completion Date : January 2015


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)



Primary Outcome Measures :
  1. 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


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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
Criteria

Inclusion Criteria:

All individuals affected with Donnai-Barrow Syndrome


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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

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
First Posted: January 12, 2012    Key Record Dates
Last Update Posted: November 8, 2013
Last Verified: November 2013

Keywords provided by Barbara R. Pober, Massachusetts General Hospital:
Donnai-Barrow Syndrome (DBS)
metabolic testing
genes
genetic

Additional relevant MeSH terms:
Syndrome
Hearing Loss, Sensorineural
Myopia
Proteinuria
Renal Tubular Transport, Inborn Errors
Agenesis of Corpus Callosum
Hernias, Diaphragmatic, Congenital
Disease
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