MedTrace Logo

Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution

NCT04872894 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 70

Last updated 2024-04-03

No results posted yet for this study

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

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.

Sponsors & Collaborators

  • Hospital Clinic of Barcelona

    collaborator OTHER

  • Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-02-01
Primary Completion
2023-01-01
Completion
2023-04-01

Countries

  • Spain

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04872894 on ClinicalTrials.gov