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Dietary Supplements for the Treatment of Angelman Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00348933
Recruitment Status : Completed
First Posted : July 6, 2006
Results First Posted : September 24, 2012
Last Update Posted : September 24, 2012
Sponsor:
Collaborators:
Baylor College of Medicine
Rady Children's Hospital, San Diego
Boston Children’s Hospital
Greenwood Genetic Center
Rare Diseases Clinical Research Network
Information provided by (Responsible Party):
Lynne M. Bird, University of California, San Diego

Study Type Interventional
Study Design Allocation: Non-Randomized;   Intervention Model: Single Group Assignment;   Masking: None (Open Label);   Primary Purpose: Treatment
Conditions Angelman Syndrome
Nervous System Diseases
Interventions Drug: Betaine
Drug: Creatine
Drug: Metafolin
Drug: Vitamin B12
Enrollment 90
Recruitment Details  
Pre-assignment Details  
Arm/Group Title Metafolin, Betaine, Creatine, B12 Treatment
Hide Arm/Group Description Participants will receive two daily doses of Metafolin, betaine, and creatine, and one daily dose of vitamin B12 for 12 months.
Period Title: Overall Study
Started 90
Completed 65
Not Completed 25
Reason Not Completed
Withdrawal by Subject             10
Lost to Follow-up             6
Protocol Violation             2
Adverse Event             7
Arm/Group Title Metafolin, Betaine, Creatine, B12 Treatment
Hide Arm/Group Description Participants will receive two daily doses of Metafolin, betaine, and creatine, and one daily dose of vitamin B12 for 12 months.
Overall Number of Baseline Participants 90
Hide Baseline Analysis Population Description
[Not Specified]
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 90 participants
<=18 years
90
 100.0%
Between 18 and 65 years
0
   0.0%
>=65 years
0
   0.0%
Age Continuous  
Mean (Standard Deviation)
Unit of measure:  Years
Number Analyzed 90 participants
2.9  (1.2)
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 90 participants
Female
43
  47.8%
Male
47
  52.2%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
United States Number Analyzed 90 participants
90
1.Primary Outcome
Title Average Change in Functioning in Specific Areas of Development, Including Speech and Communications Skills, Cognitive Abilities and Daily Living Skills
Hide Description

Primary:

Bayley Scales of Infant Development measures Mental Developmental Index standard scores 0 (least skilled) - 100 (most skilled) Psychomotor Developmental Index standard scores 0 (least skilled - 10 (most skilled) Vineland Adaptive Behavior Scales (VABS), Communication standard scores 0 (least skilled) - 100 (most skilled) Daily Living Skills standard scores 0 (least skilled) - 100 (most skilled) Socialization standard scores 0 (least skilled) - 100 (most skilled) Motor Skills standard scores 0 (least skilled) - 100 (most skilled) Preschool Language Scale (PLS), Auditory Comprehension 0 (least skilled) - 100 (most skilled) Expressive Communication 0 (least skilled) - 100 (most skilled)

Time Frame Baseline, 1 year
Hide Outcome Measure Data
Hide Analysis Population Description
Analysis per protocol
Arm/Group Title Treatment (Metafolin/Creatine/Betaine/B12)
Hide Arm/Group Description:
[Not Specified]
Overall Number of Participants Analyzed 65
Mean (Standard Deviation)
Unit of Measure: units on a scale
Bayley Scales Mental Developmental Index 5.7  (7.8)
Bayley Scales Psychomotor Developmental Index 4.7  (8.6)
VABS Communication 5.8  (8.3)
VABS Daily Living Skills 3.7  (7.9)
VABS Socialization 4.7  (5.2)
VABS Motor Skills 2.0  (6.1)
PLS Auditory Comprehension 2.0  (10.8)
PLS Expressive Communication 5.5  (9.6)
2.Secondary Outcome
Title Change in Levels of Betaine, Creatine, Dimethylglycine, Guanidinoacetate, Homocysteine, and Methionine.
Hide Description [Not Specified]
Time Frame Baseline, 1 year
Hide Outcome Measure Data
Hide Analysis Population Description
analysis per protocol
Arm/Group Title Treatment (Metafolin/Creatine/Betain/B12)
Hide Arm/Group Description:
All participants received treatment. Compared to a placebo group from a previous study.
Overall Number of Participants Analyzed 65
Mean (Standard Deviation)
Unit of Measure: mmol/L
Betaine 206.9  (224.5)
Creatine 83.3  (165.9)
Dimethylglycine 93.7  (129)
Guanidinoacetate 0.11  (0.34)
Homocysteine 2.3  (2.1)
Methionine 5.5  (12.1)
3.Secondary Outcome
Title Change in RBC Folate
Hide Description [Not Specified]
Time Frame Baseline, 1 year
Hide Outcome Measure Data
Hide Analysis Population Description
Analysis per protocol
Arm/Group Title Treatment (Metafolin/Creatine/Betaine/B12)
Hide Arm/Group Description:
[Not Specified]
Overall Number of Participants Analyzed 65
Mean (Standard Deviation)
Unit of Measure: ng/mL
77  (267)
Time Frame [Not Specified]
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title Metafolin, Betaine, Creatine, B12 Treatment
Hide Arm/Group Description Participants will receive two daily doses of Metafolin, betaine, and creatine, and one daily dose of vitamin B12 for 12 months.
All-Cause Mortality
Metafolin, Betaine, Creatine, B12 Treatment
Affected / at Risk (%)
Total   --/--    
Show Serious Adverse Events Hide Serious Adverse Events
Metafolin, Betaine, Creatine, B12 Treatment
Affected / at Risk (%) # Events
Total   48/90 (53.33%)    
Gastrointestinal disorders   
Constipation *  2/90 (2.22%)  2
General disorders   
Insomnia *  14/90 (15.56%)  14
Immune system disorders   
Serum sickness *  1/90 (1.11%)  1
Infections and infestations   
Infection *  7/90 (7.78%)  7
Metabolism and nutrition disorders   
Anorexia *  2/90 (2.22%)  2
Increased appetite *  1/90 (1.11%)  1
Nervous system disorders   
Seizure *  18/90 (20.00%)  18
Psychiatric disorders   
Behavior disturbance *  2/90 (2.22%)  2
Respiratory, thoracic and mediastinal disorders   
Adult Respiratory Distress Syndrome *  1/90 (1.11%)  1
*
Indicates events were collected by non-systematic assessment
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 1%
Metafolin, Betaine, Creatine, B12 Treatment
Affected / at Risk (%) # Events
Total   5/90 (5.56%)    
Gastrointestinal disorders   
Diarrhea *  1/90 (1.11%)  1
General disorders   
Laboratory abnormalities *  3/90 (3.33%)  3
Body Odor *  1/90 (1.11%)  1
*
Indicates events were collected by non-systematic assessment
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
Results Point of Contact
Name/Title: Lynne M. Bird, MD
Organization: University of California and Rady Children's Hospital, San Diego
Phone: 858-966-5840
Responsible Party: Lynne M. Bird, University of California, San Diego
ClinicalTrials.gov Identifier: NCT00348933     History of Changes
Other Study ID Numbers: RDCRN 5204
First Submitted: July 3, 2006
First Posted: July 6, 2006
Results First Submitted: June 16, 2011
Results First Posted: September 24, 2012
Last Update Posted: September 24, 2012