Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution

Completed

• Conditions: Familial Hypocalciuric Hypercalcemia

• Registration Number: NCT04872894
• Lead Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-02-01
• Study First Submitted: 2021-03-15
• Status Verified: 2021-04
• Study First Submitted QC: 2021-04-29
• Study First Posted: 2021-05-05
• Primary Completion: 2023-01-01
• Study Completion: 2023-04-01
• Last Update Submitted: 2024-04-02
• Last Update Posted: 2024-04-03

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 70

Inclusion Criteria

• 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.

Exclusion Criteria

• Genetic study of FHH is not available or was not performed despite clinical and biochemical suspicion of FHH.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Calcium levels (mg/dL)	Through study completion, an average of 1 year	Biochemical characteristics. Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Gender distribution (%)	1 year	Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Age (years)	1 year	Clinical characteristics of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Parathyroid Ultrasound results	1 year	Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH

Secondary Outcome Measures

Name	Time	Method
FHH associated comorbidities	Through study completion, an average of 1 year	Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Treatment modalities used	1 year	Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH

Trial Locations

Locations (1)

Hospital de la Santa Creu i Sant Pau; 🇪🇸 Barcelona, Spain