Ignite Creation Date:
2025-12-25 @ 2:46 AM
Ignite Modification Date:
2025-12-30 @ 4:25 PM
Study NCT ID:
NCT00348933
Status:
COMPLETED
Last Update Posted:
2012-09-24
First Post:
2006-07-03
Is Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
Dietary Supplements for the Treatment of Angelman Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': True, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D017204', 'term': 'Angelman Syndrome'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D007859', 'term': 'Learning Disabilities'}, {'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D001259', 'term': 'Ataxia'}, {'id': 'D008831', 'term': 'Microcephaly'}, {'id': 'D012640', 'term': 'Seizures'}], 'ancestors': [{'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D025063', 'term': 'Chromosome Disorders'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D000096803', 'term': 'Imprinting Disorders'}, {'id': 'D003147', 'term': 'Communication Disorders'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D065886', 'term': 'Neurodevelopmental Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}, {'id': 'D020820', 'term': 'Dyskinesias'}, {'id': 'D019465', 'term': 'Craniofacial Abnormalities'}, {'id': 'D009139', 'term': 'Musculoskeletal Abnormalities'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D065703', 'term': 'Malformations of Cortical Development, Group I'}, {'id': 'D054220', 'term': 'Malformations of Cortical Development'}, {'id': 'D009421', 'term': 'Nervous System Malformations'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D001622', 'term': 'Betaine'}, {'id': 'D003401', 'term': 'Creatine'}, {'id': 'C569381', 'term': 'levomefolate calcium'}, {'id': 'D014805', 'term': 'Vitamin B 12'}], 'ancestors': [{'id': 'D050337', 'term': 'Trimethyl Ammonium Compounds'}, {'id': 'D000644', 'term': 'Quaternary Ammonium Compounds'}, {'id': 'D000588', 'term': 'Amines'}, {'id': 'D009930', 'term': 'Organic Chemicals'}, {'id': 'D009861', 'term': 'Onium Compounds'}, {'id': 'D006146', 'term': 'Guanidines'}, {'id': 'D000578', 'term': 'Amidines'}, {'id': 'D000596', 'term': 'Amino Acids'}, {'id': 'D000602', 'term': 'Amino Acids, Peptides, and Proteins'}, {'id': 'D045728', 'term': 'Corrinoids'}, {'id': 'D045725', 'term': 'Tetrapyrroles'}, {'id': 'D011758', 'term': 'Pyrroles'}, {'id': 'D001393', 'term': 'Azoles'}, {'id': 'D006573', 'term': 'Heterocyclic Compounds, 1-Ring'}, {'id': 'D006571', 'term': 'Heterocyclic Compounds'}, {'id': 'D006576', 'term': 'Heterocyclic Compounds, 4 or More Rings'}, {'id': 'D000072471', 'term': 'Heterocyclic Compounds, Fused-Ring'}, {'id': 'D047028', 'term': 'Macrocyclic Compounds'}, {'id': 'D011083', 'term': 'Polycyclic Compounds'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'Lbird@rchsd.org', 'phone': '858-966-5840', 'title': 'Lynne M. Bird, MD', 'organization': "University of California and Rady Children's Hospital, San Diego"}, 'certainAgreement': {'piSponsorEmployee': False, 'restrictiveAgreement': False}}, 'adverseEventsModule': {'eventGroups': [{'id': 'EG000', 'title': 'Metafolin, Betaine, Creatine, B12 Treatment', 'description': 'Participants will receive two daily doses of Metafolin, betaine, and creatine, and one daily dose of vitamin B12 for 12 months.', 'otherNumAtRisk': 90, 'otherNumAffected': 5, 'seriousNumAtRisk': 90, 'seriousNumAffected': 48}], 'otherEvents': [{'term': 'Laboratory abnormalities', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 3, 'numAffected': 3}], 'organSystem': 'General disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Diarrhea', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 1, 'numAffected': 1}], 'organSystem': 'Gastrointestinal disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Body Odor', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 1, 'numAffected': 1}], 'organSystem': 'General disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}], 'seriousEvents': [{'term': 'Seizure', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 18, 'numAffected': 18}], 'organSystem': 'Nervous system disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Insomnia', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 14, 'numAffected': 14}], 'organSystem': 'General disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Constipation', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 2, 'numAffected': 2}], 'organSystem': 'Gastrointestinal disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Anorexia', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 2, 'numAffected': 2}], 'organSystem': 'Metabolism and nutrition disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Increased appetite', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 1, 'numAffected': 1}], 'organSystem': 'Metabolism and nutrition disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Behavior disturbance', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 2, 'numAffected': 2}], 'organSystem': 'Psychiatric disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Infection', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 7, 'numAffected': 7}], 'organSystem': 'Infections and infestations', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Serum sickness', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 1, 'numAffected': 1}], 'organSystem': 'Immune system disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Adult Respiratory Distress Syndrome', 'stats': [{'groupId': 'EG000', 'numAtRisk': 90, 'numEvents': 1, 'numAffected': 1}], 'organSystem': 'Respiratory, thoracic and mediastinal disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}], 'frequencyThreshold': '1'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'Average Change in Functioning in Specific Areas of Development, Including Speech and Communications Skills, Cognitive Abilities and Daily Living Skills', 'denoms': [{'units': 'Participants', 'counts': [{'value': '65', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Treatment (Metafolin/Creatine/Betaine/B12)'}], 'classes': [{'title': 'Bayley Scales Mental Developmental Index', 'categories': [{'measurements': [{'value': '5.7', 'spread': '7.8', 'groupId': 'OG000'}]}]}, {'title': 'Bayley Scales Psychomotor Developmental Index', 'categories': [{'measurements': [{'value': '4.7', 'spread': '8.6', 'groupId': 'OG000'}]}]}, {'title': 'VABS Communication', 'categories': [{'measurements': [{'value': '5.8', 'spread': '8.3', 'groupId': 'OG000'}]}]}, {'title': 'VABS Daily Living Skills', 'categories': [{'measurements': [{'value': '3.7', 'spread': '7.9', 'groupId': 'OG000'}]}]}, {'title': 'VABS Socialization', 'categories': [{'measurements': [{'value': '4.7', 'spread': '5.2', 'groupId': 'OG000'}]}]}, {'title': 'VABS Motor Skills', 'categories': [{'measurements': [{'value': '2.0', 'spread': '6.1', 'groupId': 'OG000'}]}]}, {'title': 'PLS Auditory Comprehension', 'categories': [{'measurements': [{'value': '2.0', 'spread': '10.8', 'groupId': 'OG000'}]}]}, {'title': 'PLS Expressive Communication', 'categories': [{'measurements': [{'value': '5.5', 'spread': '9.6', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline, 1 year', 'description': 'Primary:\n\nBayley 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)', 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Analysis per protocol'}, {'type': 'SECONDARY', 'title': 'Change in Levels of Betaine, Creatine, Dimethylglycine, Guanidinoacetate, Homocysteine, and Methionine.', 'denoms': [{'units': 'Participants', 'counts': [{'value': '65', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Treatment (Metafolin/Creatine/Betain/B12)', 'description': 'All participants received treatment. Compared to a placebo group from a previous study.'}], 'classes': [{'title': 'Betaine', 'categories': [{'measurements': [{'value': '206.9', 'spread': '224.5', 'groupId': 'OG000'}]}]}, {'title': 'Creatine', 'categories': [{'measurements': [{'value': '83.3', 'spread': '165.9', 'groupId': 'OG000'}]}]}, {'title': 'Dimethylglycine', 'categories': [{'measurements': [{'value': '93.7', 'spread': '129', 'groupId': 'OG000'}]}]}, {'title': 'Guanidinoacetate', 'categories': [{'measurements': [{'value': '0.11', 'spread': '0.34', 'groupId': 'OG000'}]}]}, {'title': 'Homocysteine', 'categories': [{'measurements': [{'value': '2.3', 'spread': '2.1', 'groupId': 'OG000'}]}]}, {'title': 'Methionine', 'categories': [{'measurements': [{'value': '5.5', 'spread': '12.1', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline, 1 year', 'unitOfMeasure': 'mmol/L', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'analysis per protocol'}, {'type': 'SECONDARY', 'title': 'Change in RBC Folate', 'denoms': [{'units': 'Participants', 'counts': [{'value': '65', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Treatment (Metafolin/Creatine/Betaine/B12)'}], 'classes': [{'categories': [{'measurements': [{'value': '77', 'spread': '267', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline, 1 year', 'unitOfMeasure': 'ng/mL', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Analysis per protocol'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'Metafolin, Betaine, Creatine, B12 Treatment', 'description': 'Participants will receive two daily doses of Metafolin, betaine, and creatine, and one daily dose of vitamin B12 for 12 months.'}], 'periods': [{'title': 'Overall Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '90'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '65'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '25'}]}], 'dropWithdraws': [{'type': 'Withdrawal by Subject', 'reasons': [{'groupId': 'FG000', 'numSubjects': '10'}]}, {'type': 'Lost to Follow-up', 'reasons': [{'groupId': 'FG000', 'numSubjects': '6'}]}, {'type': 'Protocol Violation', 'reasons': [{'groupId': 'FG000', 'numSubjects': '2'}]}, {'type': 'Adverse Event', 'reasons': [{'groupId': 'FG000', 'numSubjects': '7'}]}]}]}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '90', 'groupId': 'BG000'}]}], 'groups': [{'id': 'BG000', 'title': 'Metafolin, Betaine, Creatine, B12 Treatment', 'description': 'Participants will receive two daily doses of Metafolin, betaine, and creatine, and one daily dose of vitamin B12 for 12 months.'}], 'measures': [{'title': 'Age, Categorical', 'classes': [{'categories': [{'title': '<=18 years', 'measurements': [{'value': '90', 'groupId': 'BG000'}]}, {'title': 'Between 18 and 65 years', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}, {'title': '>=65 years', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Age Continuous', 'classes': [{'categories': [{'measurements': [{'value': '2.9', 'spread': '1.2', 'groupId': 'BG000'}]}]}], 'paramType': 'MEAN', 'unitOfMeasure': 'years', 'dispersionType': 'STANDARD_DEVIATION'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '43', 'groupId': 'BG000'}]}, {'title': 'Male', 'measurements': [{'value': '47', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Region of Enrollment', 'classes': [{'title': 'United States', 'categories': [{'measurements': [{'value': '90', 'groupId': 'BG000'}]}]}], 'paramType': 'NUMBER', 'unitOfMeasure': 'participants'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 90}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2006-07'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2012-09', 'completionDateStruct': {'date': '2010-02', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2012-09-21', 'studyFirstSubmitDate': '2006-07-03', 'resultsFirstSubmitDate': '2011-06-16', 'studyFirstSubmitQcDate': '2006-07-03', 'lastUpdatePostDateStruct': {'date': '2012-09-24', 'type': 'ESTIMATED'}, 'resultsFirstSubmitQcDate': '2012-09-21', 'studyFirstPostDateStruct': {'date': '2006-07-06', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2012-09-24', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2010-02', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Average Change in Functioning in Specific Areas of Development, Including Speech and Communications Skills, Cognitive Abilities and Daily Living Skills', 'timeFrame': 'Baseline, 1 year', 'description': 'Primary:\n\nBayley 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)'}], 'secondaryOutcomes': [{'measure': 'Change in Levels of Betaine, Creatine, Dimethylglycine, Guanidinoacetate, Homocysteine, and Methionine.', 'timeFrame': 'Baseline, 1 year'}, {'measure': 'Change in RBC Folate', 'timeFrame': 'Baseline, 1 year'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['Developmental Delay', 'Mental Retardation', 'Ataxia', 'Microcephaly', 'Seizures'], 'conditions': ['Angelman Syndrome', 'Nervous System Diseases']}, 'referencesModule': {'references': [{'pmid': '8988171', 'type': 'BACKGROUND', 'citation': 'Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet. 1997 Jan;15(1):70-3. doi: 10.1038/ng0197-70.'}, {'pmid': '16470747', 'type': 'BACKGROUND', 'citation': 'Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006 Mar 1;140(5):413-8. doi: 10.1002/ajmg.a.31074.'}, {'pmid': '11343340', 'type': 'BACKGROUND', 'citation': 'Williams CA, Lossie A, Driscoll D; R.C. Phillips Unit. Angelman syndrome: mimicking conditions and phenotypes. Am J Med Genet. 2001 Jun 1;101(1):59-64. doi: 10.1002/ajmg.1316.'}, {'pmid': '31640736', 'type': 'DERIVED', 'citation': 'Han J, Bichell TJ, Golden S, Anselm I, Waisbren S, Bacino CA, Peters SU, Bird LM, Kimonis V. A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet J Rare Dis. 2019 Oct 22;14(1):232. doi: 10.1186/s13023-019-1216-0.'}, {'pmid': '22002941', 'type': 'DERIVED', 'citation': 'Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec;155A(12):2956-63. doi: 10.1002/ajmg.a.34297. Epub 2011 Oct 14.'}]}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': "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.\n\nIn 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.\n\nThis 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. Participants will receive two daily doses of Metafolin, betaine, and creatine, and one daily dose of vitamin B12 for the duration of the study. Parents will be asked to complete a questionnaire at each visit to report their child's behavior while taking the dietary supplements. Parents will also be contacted by phone periodically to assess changes and/or progress in their children."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '5 Years', 'minimumAge': '1 Day', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Diagnosis of AS\n* In stable condition with relatively good control of seizures\n* Willing to comply with treatment, study visit schedule, and study assessments\n* Willing to take oral or G-tube medication\n* Willing to be contacted monthly during the course of the study\n* Parent or guardian willing to provide informed consent\n\nExclusion Criteria:\n\n* History of liver or kidney disease\n* Currently being treated for a serious acute illness\n* Known hypersensitivity to any of the study drugs\n* Received high-dose folate drug treatment in the 12 months prior to study entry\n* Other significant medical problems, including those involving the liver, kidney, or heart\n* Other comorbidities, genetic disorders, or extreme prematurity; children with autism are not excluded'}, 'identificationModule': {'nctId': 'NCT00348933', 'briefTitle': 'Dietary Supplements for the Treatment of Angelman Syndrome', 'organization': {'class': 'OTHER', 'fullName': 'University of California, San Diego'}, 'officialTitle': 'Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome', 'orgStudyIdInfo': {'id': 'RDCRN 5204'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': '1', 'description': 'Participants will receive two daily doses of Metafolin, betaine, and creatine, and one daily dose of vitamin B12 for 12 months.', 'interventionNames': ['Drug: Betaine', 'Drug: Creatine', 'Drug: Metafolin', 'Drug: Vitamin B12']}], 'interventions': [{'name': 'Betaine', 'type': 'DRUG', 'description': '100-200 mg per kg per day by mouth with a maximum of 6 grams divided in two daily doses', 'armGroupLabels': ['1']}, {'name': 'Creatine', 'type': 'DRUG', 'description': '200 mg per kg per day with a daily maximum of 5 grams divided in two daily doses', 'armGroupLabels': ['1']}, {'name': 'Metafolin', 'type': 'DRUG', 'description': '0.5 mg per kg per day by mouth with a maximum of 8 milligrams divided in two daily doses', 'armGroupLabels': ['1']}, {'name': 'Vitamin B12', 'type': 'DRUG', 'description': '1 mg by mouth per day for all weights and ages', 'armGroupLabels': ['1']}]}, 'contactsLocationsModule': {'locations': [{'zip': '92123', 'city': 'San Diego', 'state': 'California', 'country': 'United States', 'facility': "Rady Children's Hospital San Diego", 'geoPoint': {'lat': 32.71571, 'lon': -117.16472}}, {'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': "Children's Hospital Boston", 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'city': 'Greenwood', 'state': 'South Carolina', 'country': 'United States', 'facility': 'Greenwood Genetics Center', 'geoPoint': {'lat': 34.1954, 'lon': -82.16179}}, {'city': 'Houston', 'state': 'Texas', 'country': 'United States', 'facility': 'Baylor College of Medicine', 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}], 'overallOfficials': [{'name': 'Arthur L. Beaudet, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Department of Molecular and Human Genetics, Baylor College of Medicine'}, {'name': 'Carlos A. Bacino, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Department of Molecular and Human Genetics, Baylor College of Medicine'}, {'name': 'Wen-Hann Tan, BMBS', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Harvard Medical School, Children's Hospital Boston"}, {'name': 'Lynne M. Bird, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Division of Dysmorphology/Genetics, Children's Hospital San Diego, Department of Pediatrics, University of California, San Diego"}, {'name': 'Steven A. Skinner, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Greenwood Genetic Center'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of California, San Diego', 'class': 'OTHER'}, 'collaborators': [{'name': 'Baylor College of Medicine', 'class': 'OTHER'}, {'name': "Rady Children's Hospital, San Diego", 'class': 'OTHER'}, {'name': "Boston Children's Hospital", 'class': 'OTHER'}, {'name': 'Greenwood Genetic Center', 'class': 'OTHER'}, {'name': 'Rare Diseases Clinical Research Network', 'class': 'NETWORK'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'Lynne M. Bird', 'investigatorAffiliation': 'University of California, San Diego'}}}}