Blood and Urine Screening for Metabolic Abnormalities in Patients With Donnai-Barrow Syndrome (DBS) Who Have Mutations in the Gene LRP2
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Purpose
The project 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 |
- Measuring blood and urine compounds, such as vitamin A [ Time Frame: 5 years ] [ Designated as safety issue: No ]Measuring vitamin A, Retinol Binding Protein, and other compounds taken up by LRP2.
Biospecimen Retention: Samples With DNA
Urine, saliva and blood samples are collected.
| Estimated Enrollment: | 70 |
| Study Start Date: | March 2010 |
| Estimated Study Completion Date: | January 2016 |
| Estimated Primary Completion Date: | January 2015 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
Index cases are individuals with DBS.
Index cases are individuals diagnosed with DBS. We will also recruit parents and unaffected siblings of individuals with DBS, whenever possible.
|
Detailed Description:
The purpose of this research study is to learn more about the absorption of certain nutrients and compounds in persons with DBS, as well as their family members. This knowledge may provide a better understanding of normal and abnormal metabolism in DBS. We anticipate this may lead to improved outcomes, and possibly even new treatments, for individuals with DBS in the future.
Participation involves collecting information about the medical problems in your family member with DBS as well as collecting blood, urine and possibly saliva samples. In order to participate in this study, we will work closely with your local doctor or doctors. Mutation testing for the gene known to cause DBS (LRP2) is conducted on patients that pass an initial screen.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Any individual that is clinically suspected to have Donnai Barrow Syndrome.
Inclusion Criteria:
- Clinically suspected Donnai Barrow Syndrome
Exclusion Criteria:
- Donnai Barrow Syndrome patient is no longer alive, and urine or DNA sample are not available
Contacts and Locations| Contact: Anna Frangulov, B.S. | 617 355 2555 | DBS.Research@tch.harvard.edu |
| Contact: Barbara R. Pober, M.D. | 617 355 8780 | barbara.pober@tch.harvard.edu |
| United States, Massachusetts | |
| Massachusetts General Hospital for Children | Recruiting |
| Boston, Massachusetts, United States, 02114 | |
| Contact: Anna Frangulov, B.S. 617-355-2555 dbs.research@tch.harvard.edu | |
| Contact: Barbara R. Pober, M.D. 617 355 8780 barbara.pober@tch.harvard.edu | |
| Principal Investigator: Barbara R Pober, M.D. | |
More Information
Additional Information:
No publications provided
| Responsible Party: | Barbara R. Pober, Medical Geneticist, Massachusetts General Hospital |
| ClinicalTrials.gov Identifier: | NCT01509287 History of Changes |
| Other Study ID Numbers: | 2009p001589 |
| Study First Received: | January 10, 2012 |
| Last Updated: | August 21, 2012 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by Massachusetts General Hospital:
|
DBS Donnai Barrow Syndrome metabolic testing |
LRP2 genetic genes |
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 June 17, 2013