An observational study in Familial Hypocalciuric Hypercalcemia, sponsored by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau. Completed at 1 site in Spain. Per ClinicalTrials.gov, last updated 2024-04-03.
Sponsored by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau · Observational
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.
51 studies on the registry are indexed under Hypercalcemia; 9 are open to participants now.
This study's enrollment of 70 is below the median of 193 across 14 observational studies indexed under Hypercalcemia.
Browse Hypercalcemia studies →Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau is the lead sponsor of 343 studies on the registry; 65 are open to participants now.
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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.
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Exclusion Criteria:
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.
Age (years)
Clinical characteristics of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Time frame: 1 year
Gender distribution (%)
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Time frame: 1 year
Calcium levels (mg/dL)
Biochemical characteristics. Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Time frame: Through study completion, an average of 1 year
Parathyroid Ultrasound results
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Time frame: 1 year
Treatment modalities used
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Time frame: 1 year
FHH associated comorbidities
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Time frame: Through study completion, an average of 1 year
Plan to share: No
No publications or documents are linked to this record.
Ran from Feb 2021 to primary completion in Jan 2023, 23 months.
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This study is completed, as verified in Apr 2021. You cannot join it, but the record below documents what was studied.
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