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Main
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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register. |
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Register:
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ClinicalTrials.gov |
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Last refreshed on:
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19 October 2017 |
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Main ID: |
NCT00348933 |
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Date of registration:
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03/07/2006 |
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Prospective Registration:
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No |
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Primary sponsor: |
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Public title:
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Dietary Supplements for the Treatment of Angelman Syndrome
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Scientific title:
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Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome |
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Date of first enrolment:
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July 2006 |
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Target sample size:
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90 |
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Recruitment status: |
Completed |
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URL:
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https://clinicaltrials.gov/show/NCT00348933 |
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Study type:
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Interventional |
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Study design:
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Phase:
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N/A
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Countries of recruitment
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United States
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Contacts
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Name:
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Wen-Hann Tan, BMBS |
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Address:
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Telephone:
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Email:
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Affiliation:
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Harvard Medical School, Children's Hospital Boston |
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Name:
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Steven A. Skinner, MD |
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Address:
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Telephone:
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Email:
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Affiliation:
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Greenwood Genetic Center |
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Name:
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Arthur L. Beaudet, MD |
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Address:
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Telephone:
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Email:
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Affiliation:
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Department of Molecular and Human Genetics, Baylor College of Medicine |
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Name:
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Carlos A. Bacino, MD |
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Address:
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Telephone:
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Email:
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Affiliation:
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Department of Molecular and Human Genetics, Baylor College of Medicine |
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Name:
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Lynne M. Bird, MD |
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Address:
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Telephone:
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Email:
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Affiliation:
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Division of Dysmorphology/Genetics, Children's Hospital San Diego, Department of Pediatrics, University of California, San Diego |
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Key inclusion & exclusion criteria
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Inclusion Criteria:
- Diagnosis of AS
- In stable condition with relatively good control of seizures
- Willing to comply with treatment, study visit schedule, and study assessments
- Willing to take oral or G-tube medication
- Willing to be contacted monthly during the course of the study
- Parent or guardian willing to provide informed consent
Exclusion Criteria:
- History of liver or kidney disease
- Currently being treated for a serious acute illness
- Known hypersensitivity to any of the study drugs
- Received high-dose folate drug treatment in the 12 months prior to study entry
- Other significant medical problems, including those involving the liver, kidney, or
heart
- Other comorbidities, genetic disorders, or extreme prematurity; children with autism
are not excluded
Age minimum:
N/A
Age maximum:
5 Years
Gender:
All
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Health Condition(s) or Problem(s) studied
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Nervous System Diseases
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Angelman Syndrome
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Intervention(s)
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Drug: Metafolin
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Drug: Betaine
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Drug: Creatine
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Drug: Vitamin B12
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Primary Outcome(s)
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Average Change in Functioning in Specific Areas of Development, Including Speech and Communications Skills, Cognitive Abilities and Daily Living Skills
[Time Frame: Baseline, 1 year]
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Secondary Outcome(s)
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Change in Levels of Betaine, Creatine, Dimethylglycine, Guanidinoacetate, Homocysteine, and Methionine.
[Time Frame: Baseline, 1 year]
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Change in RBC Folate
[Time Frame: Baseline, 1 year]
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Secondary ID(s)
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RDCRN 5204
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Source(s) of Monetary Support
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Please refer to primary and secondary sponsors
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