Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution

April 2, 2024 updated by: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

70

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Spain
      • Barcelona, Spain, 08041
        • Hospital De La Santa Creu I Sant Pau

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

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.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Treatment modalities used
Time Frame: 1 year
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
1 year
FHH associated comorbidities
Time Frame: Through study completion, an average of 1 year
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Through study completion, an average of 1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Collaborators

Hospital Clinic of Barcelona

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 1, 2021

Primary Completion (Actual)

January 1, 2023

Study Completion (Actual)

April 1, 2023

Study Registration Dates

First Submitted

March 15, 2021

First Submitted That Met QC Criteria

April 29, 2021

First Posted (Actual)

May 5, 2021

Study Record Updates

Last Update Posted (Actual)

April 3, 2024

Last Update Submitted That Met QC Criteria

April 2, 2024

Last Verified

April 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IIBSP-HCF-2020-89

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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