Ignite Creation Date:
2025-12-25 @ 2:41 AM
Ignite Modification Date:
2025-12-30 @ 11:44 PM
Study NCT ID:
NCT01721733
Status:
COMPLETED
Last Update Posted:
2020-08-31
First Post:
2012-11-01
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D007888', 'term': 'Leigh Disease'}, {'id': 'D028361', 'term': 'Mitochondrial Diseases'}], 'ancestors': [{'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D015323', 'term': 'Pyruvate Metabolism, Inborn Errors'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'C571746', 'term': 'alpha-tocotrienol quinone'}]}}, 'protocolSection': {'designModule': {'phases': ['PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'RANDOMIZED', 'maskingInfo': {'masking': 'QUADRUPLE', 'whoMasked': ['PARTICIPANT', 'CARE_PROVIDER', 'INVESTIGATOR', 'OUTCOMES_ASSESSOR']}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'CROSSOVER'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 35}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2012-10-31', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2020-08', 'dispFirstSubmitDate': '2020-08-17', 'completionDateStruct': {'date': '2015-05-31', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2020-08-24', 'studyFirstSubmitDate': '2012-11-01', 'dispFirstSubmitQcDate': '2020-08-24', 'studyFirstSubmitQcDate': '2012-11-05', 'dispFirstPostDateStruct': {'date': '2020-08-31', 'type': 'ACTUAL'}, 'lastUpdatePostDateStruct': {'date': '2020-08-31', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2012-11-06', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2015-02-28', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3', 'timeFrame': '6 months', 'description': 'Change from baseline to six months will be compared between subjects in active treatment group and placebo group'}], 'secondaryOutcomes': [{'measure': 'Neuromuscular function', 'timeFrame': '6 months', 'description': 'Gross Motor Function Measure; Barry Albright Dystonia Scale'}, {'measure': 'Respiratory function', 'timeFrame': '6 months', 'description': 'Need for tracheostomy'}, {'measure': 'Disease morbidity', 'timeFrame': '6 months', 'description': 'Total number of hospitalizations'}, {'measure': 'Glutathione cycle biomarkers', 'timeFrame': '6 months', 'description': 'Blood levels of glutathione will be compared between placebo and treatment group'}, {'measure': 'Number of dose limiting serious adverse events', 'timeFrame': '6 months'}, {'measure': 'Mortality', 'timeFrame': '6 months', 'description': 'Number of deaths'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['EPI743', 'Leigh syndrome', 'respiratory chain disease', 'mitochondrial disorders'], 'conditions': ['Leigh Syndrome']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'http://www.edisonpharma.com', 'label': 'Edison Pharmaceuticals Web Site'}]}, 'descriptionModule': {'briefSummary': 'The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.', 'detailedDescription': 'The purpose of this study is to evaluate the effects of EPI-743 in patient with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and biomarkers associated with the disease.\n\nThis study is a six month prospective randomized double-blind, placebo-controlled trial with a six month extension phase of two dose levels of EPI743. The planned enrollment is for approximately 30 children with genetically confirmed Leigh syndrome. After 6 months of treatment, those children that were randomized to the placebo treatment arm will be re-randomized to one of the 2 active treatment arms.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '17 Years', 'minimumAge': '6 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Clinical and MRI diagnosis of Leigh syndrome\n* Moderate disease severity based on NPMDS score\n* Age under 18 years\n* Documented evidence of disease progression within 12 month of enrollment\n* Availability of MRI that confirms necrotizing encephalopathy\n* Patient or guardian able to consent and comply with protocol requirements\n* Abstention from Coenzyme Q10, Vitamins C \\& E, lipoic acid and Idebenone\n\nExclusion Criteria:\n\n* Allergy to EPI-743, Vitamin E or sesame oil\n* History of bleeding abnormalities or abnormal PT/PTT\n* Diagnosis of concurrent inborn error of metabolism\n* Previous tracheostomy\n* Ventilator dependent or use of noninvasive ventilatory support w/in 1 month of enrollment\n* LFTs greater than 2 times ULN\n* Renal insufficiency\n* End stage cardiac failure\n* Fat malabsorption syndrome\n* Use of anticoagulant medications\n* Abstention from Botox for 6 months prior to enrollment and for duration of study'}, 'identificationModule': {'nctId': 'NCT01721733', 'briefTitle': 'Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome', 'organization': {'class': 'INDUSTRY', 'fullName': 'PTC Therapeutics'}, 'officialTitle': 'A Phase 2B Randomized, Placebo Controlled, Double Blind Clinical Trial of EPI-743 in Children With Leigh Syndrome', 'orgStudyIdInfo': {'id': 'EPI743-12-002'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'PLACEBO_COMPARATOR', 'label': 'Placebo', 'description': 'Each patient will receive a volume of placebo based on weight', 'interventionNames': ['Drug: Placebo']}, {'type': 'ACTIVE_COMPARATOR', 'label': 'EPI-743 15 mg/kg', 'description': 'Each subjects dose will be based on their weight. 15 mg/kg with a maximum dose of 200 mg per dose, t.i.d., will be administered in this treatment arm.', 'interventionNames': ['Drug: EPI-743 15 mg/kg']}, {'type': 'ACTIVE_COMPARATOR', 'label': 'EPI-743 5 mg/kg', 'description': 'Each subjects dose will be based on their weight. 5 mg/kg with a maximum dose of 100 mg per dose, t.i.d., will be administered in this treatment arm.', 'interventionNames': ['Drug: EPI-743 5 mg/kg']}], 'interventions': [{'name': 'Placebo', 'type': 'DRUG', 'armGroupLabels': ['Placebo']}, {'name': 'EPI-743 15 mg/kg', 'type': 'DRUG', 'armGroupLabels': ['EPI-743 15 mg/kg']}, {'name': 'EPI-743 5 mg/kg', 'type': 'DRUG', 'armGroupLabels': ['EPI-743 5 mg/kg']}]}, 'contactsLocationsModule': {'locations': [{'zip': '94304', 'city': 'Palo Alto', 'state': 'California', 'country': 'United States', 'facility': 'Stanford University', 'geoPoint': {'lat': 37.44188, 'lon': -122.14302}}, {'zip': '44308', 'city': 'Akron', 'state': 'Ohio', 'country': 'United States', 'facility': "Akron Children's Hospital", 'geoPoint': {'lat': 41.08144, 'lon': -81.51901}}, {'zip': '77030', 'city': 'Houston', 'state': 'Texas', 'country': 'United States', 'facility': 'Baylor College of Medicine', 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}, {'zip': '98105', 'city': 'Seattle', 'state': 'Washington', 'country': 'United States', 'facility': "Seattle Children's Hospital", 'geoPoint': {'lat': 47.60621, 'lon': -122.33207}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'PTC Therapeutics', 'class': 'INDUSTRY'}, 'collaborators': [{'name': 'Axio Research. LLC', 'class': 'INDUSTRY'}], 'responsibleParty': {'type': 'SPONSOR'}}}}