N/A
N=90
Dietary Supplements for the Treatment of Angelman Syndrome
Angelman Syndrome · Nervous System Diseases
Bottom Line
View on ClinicalTrials.gov: NCT00348933 ↗Enrolled (actual)
90
Serious AEs
53.3%
Results posted
Sep 2012
Primary outcome: Primary: Average Change in Functioning in Specific Areas of Development, Including Speech and Communications Skills, Cognitive Abilities and Daily Living Skills — 5.7; 4.7; 5.8; 3.7 units on a scale
Study Design & Population
- Study type
- Interventional
- Phase
- N/A
- Interventions
- Betaine (Drug); Creatine (Drug); Metafolin (Drug); Vitamin B12 (Drug)
- Age
- Pediatric · 0+ yrs
- Sex
- All
- Sponsor
- University of California, San Diego
- Primary completion
- Feb 2010
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Average Change in Functioning in Specific Areas of Development, Including Speech and Communications Skills, Cognitive Abilities and Daily Living Skills |
5.7; 4.7; 5.8; 3.7; 4.7; 2.0 | — |
| SECONDARY Change in Levels of Betaine, Creatine, Dimethylglycine, Guanidinoacetate, Homocysteine, and Methionine. |
206.9; 83.3; 93.7; 0.11; 2.3; 5.5 | — |
| SECONDARY Change in RBC Folate |
77 | — |
Summary
Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. The purpose of this study is to determine the effectiveness of certain dietary supplements in treating the symptoms of AS.
Eligibility Criteria
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
Data sourced from ClinicalTrials.gov (NCT00348933). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.