Metabolic Screening in Patients With Donnai-Barrow Syndrome
| Status: | Completed |
|---|---|
| Conditions: | Other Indications, Ocular, Endocrine |
| Therapuetic Areas: | Endocrinology, Ophthalmology, Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/2/2016 |
| Start Date: | March 2010 |
| End Date: | January 2015 |
| Contact: | Jessica Kim, BS |
| Email: | jessica.kim2@childrens.harvard.edu |
| Phone: | 617-355-2555 |
This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).
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.
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.
Inclusion Criteria:
All individuals affected with Donnai-Barrow Syndrome
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