Ignite Creation Date:
2025-12-24 @ 1:03 PM
Ignite Modification Date:
2025-12-28 @ 2:41 AM
Study NCT ID:
NCT03478761
Status:
RECRUITING
Last Update Posted:
2025-04-04
First Post:
2018-03-22
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': '24,25 Vitamin D testing'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 600}, 'targetDuration': '1 Year', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-10-19', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-04', 'completionDateStruct': {'date': '2025-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-04-01', 'studyFirstSubmitDate': '2018-03-22', 'studyFirstSubmitQcDate': '2018-03-22', 'lastUpdatePostDateStruct': {'date': '2025-04-04', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2018-03-27', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency', 'timeFrame': 'yearly', 'description': 'This patient registry will expand knowledge of the clinical expression of this disease by systematically accumulating and analyzing information regarding a larger number of patients than have been studied to date.'}], 'secondaryOutcomes': [{'measure': 'Improved understanding of symptoms and progression of this disease', 'timeFrame': 'yearly', 'description': 'The goal of the patient registry is to collect data about this rare diseases, provide a better understanding of this conditions and help to develop new treatments.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['CYP24A1 mutation', 'CYP24A1', '24-hydroxylase deficiency'], 'conditions': ['24-hydroxylase Deficiency']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'https://www.mayo.edu/research/clinical-trials', 'label': 'Mayo Clinic Clinical Trials'}]}, 'descriptionModule': {'briefSummary': 'You are being asked to take part in this research registry because you or your family member is suspected to have a 24-hydroxylase deficiency.', 'detailedDescription': 'In this registry we propose to establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency in an effort to collect data for further investigation. This would be the first and only known registry of its kind. These resources would be made widely available to clinicians and research scientists within Mayo to stimulate advances in the diagnosis and treatment of patients with this disease.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '24-hydroxylase deficiency and CYP24A1 mutation patient', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\nPatients who have undergone genetic testing for a CYP24A1 mutation with at least 3 of the following:\n\n* Urinary Stone Disease\n* Nephrocalcinosis\n* Metabolic Bone Disease\n* Serum Calcium \\>/= 9.6 mg/dL\n* Parathyroid hormone (PTH) \\< 30 pg/mL\n* 1,25-dihydroxyvitamin D \\> 40 pg/mL OR a family member of a patient who meets the above criteria\n\nExclusion Criteria:\n\nPatients who have tested negative for a CYP24A1 mutation with an alternative diagnosis that might explain hypercalcemia/hypercalciuria/stone disease:\n\n* Sarcoidosis\n* Lymphoma\n* Tuberculosis\n* Fungal infections\n* Excessive exogenous calcium or vitamin D intake'}, 'identificationModule': {'nctId': 'NCT03478761', 'briefTitle': '24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry', 'organization': {'class': 'OTHER', 'fullName': 'Mayo Clinic'}, 'officialTitle': '24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry', 'orgStudyIdInfo': {'id': '17-003972'}}, 'contactsLocationsModule': {'locations': [{'zip': '55905', 'city': 'Rochester', 'state': 'Minnesota', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Barbara M Seide, CCRP', 'role': 'CONTACT', 'email': 'rarekidneystones@mayo.edu', 'phone': '800-270-4637'}, {'name': 'Carly Banks, CCRP', 'role': 'CONTACT', 'email': 'rarekidneystones@mayo.edu', 'phone': '800-270-4637'}], 'facility': 'Mayo Clinic', 'geoPoint': {'lat': 44.02163, 'lon': -92.4699}}], 'centralContacts': [{'name': 'Barb M Seide, CCRP', 'role': 'CONTACT', 'email': 'seide.barbara@mayo.edu', 'phone': '507-255-0387'}, {'name': 'Rare Kidney Stone Consortium', 'role': 'CONTACT', 'email': 'RareKidneyStones@mayo.edu', 'phone': '800-270-4637'}], 'overallOfficials': [{'name': 'David Sas, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Mayo Clinic'}, {'name': 'Peter Tebben, MD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Mayo Clinic'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Mayo Clinic', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'David J. Sas', 'investigatorAffiliation': 'Mayo Clinic'}}}}