Ignite Creation Date:
2025-12-25 @ 12:39 AM
Ignite Modification Date:
2025-12-25 @ 12:39 AM
Study NCT ID:
NCT03484767
Status:
COMPLETED
Last Update Posted:
2021-08-02
First Post:
2018-03-13
Is Possible Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
"The MaP Study": Mapping the Patient Journey in MMA and PA
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['Italy']}, 'conditionBrowseModule': {'meshes': [{'id': 'C537358', 'term': 'Methylmalonic acidemia'}, {'id': 'D056693', 'term': 'Propionic Acidemia'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}], 'ancestors': [{'id': 'D000592', 'term': 'Amino Acid Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 97}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2018-03-20', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-07', 'completionDateStruct': {'date': '2021-05-29', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2021-07-29', 'studyFirstSubmitDate': '2018-03-13', 'studyFirstSubmitQcDate': '2018-03-29', 'lastUpdatePostDateStruct': {'date': '2021-08-02', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2018-04-02', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-05-29', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Change in plasma methylmalonic acid levels (MMA only)', 'timeFrame': 'Baseline through 12 months'}, {'measure': 'Frequency of disease related clinical events in enrolled participants (mut0 and mut- MMA patients)', 'timeFrame': 'Baseline through 12 months'}, {'measure': 'Changes in plasma 2-MC levels (PA only)', 'timeFrame': 'Baseline through 12 months'}, {'measure': 'Changes in plasma 3-HP levels (PA only)', 'timeFrame': 'Baseline through 12 months'}, {'measure': 'Frequency of disease related clinical events in enrolled participants (PA patients)', 'timeFrame': 'Baseline through 12 months'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['methylmalonic acidemia', 'MMA', 'organic acidemia', 'mut deficiency', 'inborn errors of metabolism', 'mut0', 'mut-', 'PA', 'PCCA', 'PCCB', 'propionic acidemia'], 'conditions': ['Methylmalonic Acidemia', 'Propionic Acidemia']}, 'descriptionModule': {'briefSummary': 'Longitudinal, exploratory, natural history study of patients with MMA due to mut deficiency and PA to characterize the changes in blood disease biomarkers over time and the frequency and severity of clinical events related to their disease.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Individuals of any age with confirmed diagnosis of isolated MMA due to MUT deficiency (mut0 or mut-) or isolated PA', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\nMMA Only • Patient has a confirmed diagnosis of isolated MMA due to MUT deficiency (mut0 or mut-) based on the following criteria:\n\n* Elevated plasma/serum/DBS or urine methylmalonic acid levels\n* Presence of normal serum/plasma vitamin B12 and plasma homocysteine levels\n* Confirmed by molecular genetic testing. Genetic testing can be performed after the administration of informed consent if not available, however, molecular genetic results must be confirmed before the second study visit\n\nPA Only\n\n• Patient has a confirmed diagnosis of isolated PA based on the following criteria:\n\n* Elevated plasma/DBS/urine 2-MC and/or 3-HP\n* Elevated plasma/serum/DBS propionylcarnitine (C3)\n* Confirmed by genetic testing for mutations of the PCCA or PCCB genes. Genetic testing can be performed after the administration of informed consent if not available, however, molecular genetic results must be confirmed before the second study visit\n\nBoth MMA and PA\n\n* Patient (and/or legally authorized representative as applicable to local regulations) is willing and able to comply with study-related assessments and activities\n* Patient or legally authorized representative is willing and able to provide informed consent and/or assent as mandated by local regulation\n\nExclusion Criteria:\n\n* Estimated GFR \\<30 mL/min/1.73m2 based on age appropriate equations or patients who undergo chronic dialysis\n* The patient is pregnant or lactating at the time of screening. (Note: Patients who become pregnant during the study may remain in the study) MMA Only\n* Patients diagnosed with isolated MMA cblA, cblB, or cblD enzymatic subtypes or methylmalonyl-CoA epimerase deficiency or combined MMA with homocystinuria PA Only\n* Patient has a confirmed diagnosis of multiple carboxylase deficiency'}, 'identificationModule': {'nctId': 'NCT03484767', 'briefTitle': '"The MaP Study": Mapping the Patient Journey in MMA and PA', 'organization': {'class': 'INDUSTRY', 'fullName': 'ModernaTX, Inc.'}, 'officialTitle': 'A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias', 'orgStudyIdInfo': {'id': 'mRNA-3704-P001'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Methylmalonic Acidemia Participants', 'description': 'Individuals with isolated MMA (mut0 and mut-)'}, {'label': 'Propionic Acidemia Participants', 'description': 'Individuals with isolated PA'}]}, 'contactsLocationsModule': {'locations': [{'zip': '94305', 'city': 'Stanford', 'state': 'California', 'country': 'United States', 'facility': 'Stanford Health Services', 'geoPoint': {'lat': 37.42411, 'lon': -122.16608}}, {'zip': '30322', 'city': 'Atlanta', 'state': 'Georgia', 'country': 'United States', 'facility': 'Emory Univeristy', 'geoPoint': {'lat': 33.749, 'lon': -84.38798}}, {'zip': '60611', 'city': 'Chicago', 'state': 'Illinois', 'country': 'United States', 'facility': "Ann & Robert H. Lurie Children's Hospital of Chicago", 'geoPoint': {'lat': 41.85003, 'lon': -87.65005}}, {'zip': '21287', 'city': 'Baltimore', 'state': 'Maryland', 'country': 'United States', 'facility': 'Johns Hopkins University School of Medicine', 'geoPoint': {'lat': 39.29038, 'lon': -76.61219}}, {'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': "Boston Children's Hospital", 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '10029', 'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': 'Icahn School of Medicine at Mount Sinai', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '27705', 'city': 'Durham', 'state': 'North Carolina', 'country': 'United States', 'facility': 'Duke University Medical Center', 'geoPoint': {'lat': 35.99403, 'lon': -78.89862}}, {'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'country': 'United States', 'facility': "Children's Hospital of Philadelphia", 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'zip': '15224', 'city': 'Pittsburgh', 'state': 'Pennsylvania', 'country': 'United States', 'facility': 'University of Pittsburgh', 'geoPoint': {'lat': 40.44062, 'lon': -79.99589}}, {'zip': '37232', 'city': 'Nashville', 'state': 'Tennessee', 'country': 'United States', 'facility': 'Vanderbilt University Medical Center', 'geoPoint': {'lat': 36.16589, 'lon': -86.78444}}, {'zip': '98105', 'city': 'Seattle', 'state': 'Washington', 'country': 'United States', 'facility': "Seattle Children's Hospital", 'geoPoint': {'lat': 47.60621, 'lon': -122.33207}}, {'zip': '13005', 'city': 'Marseille', 'state': 'Bouches-du-Rhône', 'country': 'France', 'facility': 'Hôpital de la Timone', 'geoPoint': {'lat': 43.29695, 'lon': 5.38107}}, {'zip': '75743', 'city': 'Paris', 'state': 'Paris', 'country': 'France', 'facility': 'Hôpital Necker - Enfants Malades', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '48903', 'city': 'Barakaldo', 'state': 'Vizcaya', 'country': 'Spain', 'facility': 'Hospital de Cruces', 'geoPoint': {'lat': 43.29639, 'lon': -2.98813}}, {'zip': 'WC1N 3JH', 'city': 'Bloomsbury', 'state': 'Greater London', 'country': 'United Kingdom', 'facility': 'Great Ormond Street Hospital', 'geoPoint': {'lat': 51.52228, 'lon': -0.12252}}, {'zip': 'B4 6NH', 'city': 'Birmingham', 'country': 'United Kingdom', 'facility': "Birmingham Children's Hospital", 'geoPoint': {'lat': 52.48142, 'lon': -1.89983}}, {'zip': 'M13 9WL', 'city': 'Manchester', 'country': 'United Kingdom', 'facility': 'Manchester University Hospitals', 'geoPoint': {'lat': 53.48095, 'lon': -2.23743}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'ModernaTX, Inc.', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}