Ignite Creation Date:
2025-12-25 @ 1:33 AM
Ignite Modification Date:
2025-12-26 @ 2:56 AM
Study NCT ID:
NCT04872894
Status:
COMPLETED
Last Update Posted:
2024-04-03
First Post:
2021-03-15
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C537145', 'term': 'Hypocalciuric hypercalcemia, familial, type 1'}, {'id': 'D006934', 'term': 'Hypercalcemia'}], 'ancestors': [{'id': 'D002128', 'term': 'Calcium Metabolism Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D014883', 'term': 'Water-Electrolyte Imbalance'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 70}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2021-02-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-04', 'completionDateStruct': {'date': '2023-04-01', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2024-04-02', 'studyFirstSubmitDate': '2021-03-15', 'studyFirstSubmitQcDate': '2021-04-29', 'lastUpdatePostDateStruct': {'date': '2024-04-03', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-05-05', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-01-01', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Age (years)', 'timeFrame': '1 year', 'description': 'Clinical characteristics of genotype-negative and genotype-positive participants with biochemical suspicion of FHH'}, {'measure': 'Gender distribution (%)', 'timeFrame': '1 year', 'description': 'Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH'}, {'measure': 'Calcium levels (mg/dL)', 'timeFrame': 'Through study completion, an average of 1 year', 'description': 'Biochemical characteristics. Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH'}, {'measure': 'Parathyroid Ultrasound results', 'timeFrame': '1 year', 'description': 'Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH'}], 'secondaryOutcomes': [{'measure': 'Treatment modalities used', 'timeFrame': '1 year', 'description': 'Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH'}, {'measure': 'FHH associated comorbidities', 'timeFrame': 'Through study completion, an average of 1 year', 'description': 'Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['hypercalcemia', 'Familial Benign Hypercalcemia', 'Familial hypocalciuric hypercalcemia'], 'conditions': ['Familial Hypocalciuric Hypercalcemia']}, 'descriptionModule': {'briefSummary': 'Familial hypocalciuric hypercalcemia (FHH) is a rare disease (ORPHA#405, www.orpha.net) and most likely underdiagnosed, that clinicians should be aware of in the differential diagnosis of a hypercalcemia. Appropriate identification of the FHH has implications in treatment and also for the family, since it is an automosal-dominant disease, due to mostly a heterozygous loss-of-function mutation of the CASR (calcium-sensing receptor) gene, but also much less freqüent mutations of another two genes (AP2S1 and GNA11). In case of clinical and biochemical suspicion of FHH, a genetic evaluation is mandatory. Nevertheless, an important number of patients, the genetic study is negative. This observational study is intended to perform a descriptive review of cases with clinical and biochemical suspicion of FHH who underwent a genetic study in the usual clinical practice. Clinical, biochemical and radiological characteristics, treatment, follow-up and comorbidities of genotype-negative participants will be compared with genotype-positive cases.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Participants with biochemical and clinical suspicion of FHH, namely hypercalcemia, hypophospatemia, normal or elevated parathormone levels and very low urine calcium excretion defined as a calcium creatinine clearance ratio \\<0.01, and who were asked at discretion of the clinician for a genetic evaluation of any of the FHH causing genes.', 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients with clinical and biochemical suspicion of FHH who, at the discretion of the physician in routine clinical practice, were asked to perform a genetic evaluation of FHH and whose genetic results are available.\n\nExclusion Criteria:\n\n* Genetic study of FHH is not available or was not performed despite clinical and biochemical suspicion of FHH.'}, 'identificationModule': {'nctId': 'NCT04872894', 'briefTitle': 'Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution', 'organization': {'class': 'OTHER', 'fullName': "Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau"}, 'officialTitle': 'Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution', 'orgStudyIdInfo': {'id': 'IIBSP-HCF-2020-89'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Observational study. No intervention is performed', 'type': 'OTHER', 'description': 'Descriptive study in participants with clinical and biochemical suspicion of FHH. Comparison between genotype-negative and genotype-positive participants with clinical and biochemical suspicion of FHH.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '08041', 'city': 'Barcelona', 'country': 'Spain', 'facility': 'Hospital de la Santa Creu i Sant Pau', 'geoPoint': {'lat': 41.38879, 'lon': 2.15899}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau", 'class': 'OTHER'}, 'collaborators': [{'name': 'Hospital Clinic of Barcelona', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}