Clinical Trial: Dietary Supplements for the Treatment of Angelman Syndrome

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome

Brief 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.

Detailed Summary:

AS is a neurologic disorder that may cause developmental delay, mental retardation, severe speech impairment, seizures, small head size, and problems with movement and balance in young children. AS is caused by a missing or incomplete chromosome 15 that is inherited from the mother. Diagnosis of AS is usually made between three and seven years of age, when the characteristic behaviors and features of the disease become most evident. Prior to AS diagnosis, the symptoms may be mistaken for cerebral palsy or autism. Physical, occupational, and speech therapy, communication skills development, and behavior modification help to improve the quality of life of these children, but other treatments are needed.

In a previous study, decreased DNA methylation, which is a type of chemical change in DNA, was observed in an individual with AS; this condition may be a primary cause of AS. It is hypothesized that promoting increased DNA methylation might reduce the severity of AS symptoms. Betaine, creatine, Metafolin, and vitamin B12 are compounds normally found in the body that are involved in the DNA methylation pathway. Increasing the concentrations of these compounds in the body may enhance DNA methylation. This study will evaluate the efficacy of four dietary supplements in treating the symptoms of AS.

This study will last 12 months. Study visits will occur at study entry and Month 12. A selected group of participants, those who meet the diagnostic criteria for autism, will also be evaluated at Month 6. At study visits, participants will undergo an electroencephalogram (EEG). Medical history, physical exam, neurological exams, and developmental assessments will also be performed. Urine and blood collection, including tests to determine the blood levels of the dietary supplements, will occur at study entry and Months 6 and 12. Partici
Sponsor: University of California, San Diego

Current Primary Outcome: 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 ]

Original Primary Outcome: Improvement in functioning across development, including acquisition of milestones, improvements in speech and communications skills, and behavioral or physical changes

Current Secondary Outcome:

• Change in Levels of Betaine, Creatine, Dimethylglycine, Guanidinoacetate, Homocysteine, and Methionine. [ Time Frame: Baseline, 1 year ]
• Change in RBC Folate [ Time Frame: Baseline, 1 year ]

Original Secondary Outcome: Comparison of pre- and post-treatment levels of S-adenosyl homocysteine (SAH), S-adenosyl methionine (SAM), dimethylglycine, methionine, homocysteine, betaine, creatine, guanidinoacetate, red blood cell folate, and DNA methylation response

Information By: University of California, San Diego

Dates:
Date Received: July 3, 2006
Date Started: July 2006
Date Completion:
Last Updated: September 21, 2012
Last Verified: September 2012