NCT04872894

Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 70 (actual)
• Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: —

Summary

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.

Conditions

• Familial Hypocalciuric Hypercalcemia

Interventions

Type	Name	Description
OTHER	Observational study. No intervention is performed	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.

Timeline

• Start date: 2021-02-01
• Primary completion: 2023-01-01
• Completion: 2023-04-01
• First posted: 2021-05-05
• Last updated: 2024-04-03

Locations

1 site across 1 country: Spain