Blood and Urine Screening for Metabolic Abnormalities in Patients With Donnai-Barrow Syndrome (DBS) Who Have Mutations in the Gene LRP2
| Tracking Information | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| First Received Date ICMJE | January 10, 2012 | ||||||||
| Last Updated Date | August 21, 2012 | ||||||||
| Start Date ICMJE | March 2010 | ||||||||
| Estimated Primary Completion Date | January 2015 (final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures ICMJE |
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. |
||||||||
| Original Primary Outcome Measures ICMJE |
Vitamin A level [ Designated as safety issue: No ] Measuring vitamin A and Retinol Binding Protein levels. Measuring other compounds taken up by LRP2. |
||||||||
| Change History | Complete list of historical versions of study NCT01509287 on ClinicalTrials.gov Archive Site | ||||||||
| Current Secondary Outcome Measures ICMJE | Not Provided | ||||||||
| Original Secondary Outcome Measures ICMJE | Not Provided | ||||||||
| Current Other Outcome Measures ICMJE | Not Provided | ||||||||
| Original Other Outcome Measures ICMJE | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title ICMJE | Blood and Urine Screening for Metabolic Abnormalities in Patients With Donnai-Barrow Syndrome (DBS) Who Have Mutations in the Gene LRP2 | ||||||||
| Official Title ICMJE | Not Provided | ||||||||
| Brief Summary | The project focuses on the genetics and metabolism of Donnai Barrow Syndrome (DBS). |
||||||||
| 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. |
||||||||
| Study Type ICMJE | Observational | ||||||||
| Study Design ICMJE | Observational Model: Case-Only Time Perspective: Cross-Sectional |
||||||||
| Target Follow-Up Duration | Not Provided | ||||||||
| Biospecimen | Retention: Samples With DNA Description: Urine, saliva and blood samples are collected. |
||||||||
| Sampling Method | Non-Probability Sample | ||||||||
| Study Population | Any individual that is clinically suspected to have Donnai Barrow Syndrome. |
||||||||
| Condition ICMJE | Donnai Barrow Syndrome | ||||||||
| Intervention ICMJE | Not Provided | ||||||||
| Study Group/Cohort (s) | 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. |
||||||||
| Publications * | Not Provided | ||||||||
|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
|||||||||
| Recruitment Information | |||||||||
| Recruitment Status ICMJE | Recruiting | ||||||||
| Estimated Enrollment ICMJE | 70 | ||||||||
| Estimated Completion Date | January 2016 | ||||||||
| Estimated Primary Completion Date | January 2015 (final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria ICMJE | Inclusion Criteria:
Exclusion Criteria:
|
||||||||
| Gender | Both | ||||||||
| Ages | Not Provided | ||||||||
| Accepts Healthy Volunteers | No | ||||||||
| Contacts ICMJE |
|
||||||||
| Location Countries ICMJE | United States | ||||||||
| Administrative Information | |||||||||
| NCT Number ICMJE | NCT01509287 | ||||||||
| Other Study ID Numbers ICMJE | 2009p001589 | ||||||||
| Has Data Monitoring Committee | Yes | ||||||||
| Responsible Party | Barbara R. Pober, Massachusetts General Hospital | ||||||||
| Study Sponsor ICMJE | Massachusetts General Hospital | ||||||||
| Collaborators ICMJE | National Institutes of Health (NIH) | ||||||||
| Investigators ICMJE | Not Provided | ||||||||
| Information Provided By | Massachusetts General Hospital | ||||||||
| Verification Date | January 2012 | ||||||||
|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |
|||||||||