Familial Hypocalciuric HypercalcemiaNCT04872894
Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution
An observational study of Familial Hypocalciuric Hypercalcemia, run by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau at 1 site in Spain.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Familial Hypocalciuric Hypercalcemia
- How many people
- 70 participants
- Where
- 1 siteSpain
- Study dates
- 1 Feb 2021to 1 Apr 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Genetic study of FHH is not available or was not performed despite clinical and biochemical suspicion of FHH.
Trial locations and contacts
1 site in 1 country.
About this study
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
- Being tested
- Observational study. No intervention is performed
- Keywords
- hypercalcemia, Familial Benign Hypercalcemia, Familial hypocalciuric hypercalcemia
- Medical subject headings
- Hypocalciuric hypercalcemia, familial, type 1, Hypercalcemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Observational study. No intervention is performedOther
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Age (years)
Clinical characteristics of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Measured: 1 year
Gender distribution (%)
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Measured: 1 year
Calcium levels (mg/dL)
Biochemical characteristics. Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Measured: Through study completion, an average of 1 year
Parathyroid Ultrasound results
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Measured: 1 year
Secondary outcomes (2)
Treatment modalities used
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Measured: 1 year
FHH associated comorbidities
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Measured: Through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 May 2021
- Study start1 Feb 2021
- Primary completion1 Jan 2023
- Study completion1 Apr 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial Hypocalciuric HypercalcemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 70 participants (actual)
Sponsor and investigators
- Lead sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
- Sponsor type
- University, hospital or other
- Collaborators
- Hospital Clinic of Barcelona
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04872894
- Sponsor's protocol ID
- IIBSP-HCF-2020-89
- Status last verified
- Apr 2021
- First submitted
- 15 Mar 2021
- Last updated
- 3 Apr 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution
- ClinicalTrials.gov ID
- NCT04872894
- Acronym / sponsor ID
- IIBSP-HCF-2020-89
- Conditions
- Familial Hypocalciuric Hypercalcemia
- Keywords
- hypercalcemia, Familial Benign Hypercalcemia, Familial hypocalciuric hypercalcemia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 70 participants (actual)
- Lead sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant PauUniversity, hospital or other
- Collaborators
- Hospital Clinic of Barcelona
- Study start
- 1 Feb 2021 (actual)
- Primary completion
- 1 Jan 2023 (actual)
- Study completion
- 1 Apr 2023 (actual)
- First posted
- 5 May 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- Genetic study of FHH is not available or was not performed despite clinical and biochemical suspicion of FHH.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Observational study. No intervention is performedDescriptive 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. | Other | – |
Primary outcome
Age (years)
Time frame: 1 year
Clinical characteristics of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
Gender distribution (%)
Time frame: 1 year
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
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
Parathyroid Ultrasound results
Time frame: 1 year
Of genotype-negative and genotype-positive participants with biochemical suspicion of FHH
2 secondary outcomes
Treatment modalities used
Time frame: 1 year
FHH associated comorbidities
Time frame: Through study completion, an average of 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2024.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Hypocalciuric Hypercalcemia, run by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Age (years) (time frame: 1 year). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2024.