Ignite Creation Date:
2025-12-25 @ 12:21 AM
Ignite Modification Date:
2025-12-31 @ 12:15 PM
Study NCT ID:
NCT01289158
Status:
UNKNOWN
Last Update Posted:
2011-02-08
First Post:
2011-02-02
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C535702', 'term': 'Malonic aciduria'}, {'id': 'C537358', 'term': 'Methylmalonic acidemia'}, {'id': 'C537834', 'term': 'Macular dystrophy, corneal type 1'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': '1. A 5 cc sample of blood from a vein in EDTA tube for DNA testing\n2. A 5 cc sample of urine sample to measure the levels of MA and MMA\n3. An additional 5 cc (1 tsp) of blood sample will be collected from the parents for DNA testing'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 6}}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2011-02'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2010-10', 'completionDateStruct': {'date': '2012-02', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2011-02-07', 'studyFirstSubmitDate': '2011-02-02', 'studyFirstSubmitQcDate': '2011-02-02', 'lastUpdatePostDateStruct': {'date': '2011-02-08', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2011-02-03', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2012-02', 'type': 'ESTIMATED'}}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['malonic and methylmalonic aciduria', 'malonyl-coenzyme A decarboxylase', 'MLYCD'], 'conditions': ['Malonic Aciduria', 'Methylmalonic Acidemia']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'http://muhc.ca/research/dashboard', 'label': 'The Research Institute of the McGill University Health Centre'}]}, 'descriptionModule': {'briefSummary': 'The investigators are interested in learning more about the changes found in the condition called "Combined elevation of Malonic and MethylMalonic Acid, or CMAMMA. " Malonic, or MA and MethylMalonic, or MMA, are acids formed from the breakdown of protein under normal conditions. However, in the condition called CMAMMA there is an increase of these acids in the blood and urine, which is not normal.\n\nSome people with high MA and MMA in their blood and urine have a serious disease, starting as a baby or young child that includes heart disease and problems in learning. These people have changes in a special enzyme called Malonyl CoA Decarboxylase (MCD). Other people who have a high level of MA and MMA do not have any obvious illness. The investigators are not sure why they have high levels of MA and MMA and why they are not sick.\n\nThe goal of this study is to learn more about why some people have a high level of MA and MMA and to make sure there are no medical problems as a result of these high levels. The investigators also want to find out which gene and enzyme cause the high levels of MA and MMA.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Biochemical Genetics clinics patients with non-classical CMAMMA', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Elevated Malonic and Methylmalonic Acid in blood and urine\n2. Any age\n3. Any sex\n4. Asymptomatic\n\nExclusion Criteria:\n\n1. Defect in malonyl-coenzyme A decarboxylase (MCD) enzyme\n2. History of metabolic acidosis, developmental delay and seizures'}, 'identificationModule': {'nctId': 'NCT01289158', 'briefTitle': 'Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study', 'organization': {'class': 'OTHER', 'fullName': 'McGill University Health Centre/Research Institute of the McGill University Health Centre'}, 'orgStudyIdInfo': {'id': '10-131-PED'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'non-classical CMAMMA, classical CMAMMA'}]}, 'contactsLocationsModule': {'locations': [{'zip': 'H3H1P3', 'city': 'Montreal', 'state': 'Quebec', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'Ahmed Alfares, M.B.B.S', 'role': 'CONTACT', 'email': 'ahmed.alfares@mail.mcgill.ca', 'phone': '5144124427'}, {'name': 'Nancy Braverman', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Ahmed Alfares', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'McGill University Health Center', 'geoPoint': {'lat': 45.50884, 'lon': -73.58781}}], 'centralContacts': [{'name': 'Ahmed Alfares, M.B.B.S', 'role': 'CONTACT', 'email': 'ahmed.alfares@mail.mcgill.ca', 'phone': '5144124427'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'McGill University Health Centre/Research Institute of the McGill University Health Centre', 'class': 'OTHER'}, 'responsibleParty': {'oldNameTitle': 'Dr. Nancy Braverman', 'oldOrganization': 'The Research Institute of the MUHC | McGill University Health Centre'}}}}