HypercalcemiaHyCaGeneNCT02908542
Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel
An observational study of Hypercalcemia, run by University Hospital, Caen at 1 site in France.
Trial summary
Hypercalcemia, whether chronic or acute, exposes the patient to potentially serious complications (arrhythmias, nephrolithiasis, nephrocalcinosis, ...). Prevention relies primarily on effective etiological necessary for taking matched load. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hypercalcemia
- What is being tested?
- genetic analysis with massively parallel sequencing
- How many people
- 185 participants
- Where
- 1 siteFrance
- Study dates
- Dec 2015to Dec 2018
- 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with medical history of hypercalcemia without hyperparathyroidism
Who may be able to join
- Chronic hypercalcemia or at least one episode of acute hypercalcemia not linked to hyperparathyroidism
- Consent to the realization of a genetic analysis for medical purposes Non-inclusion criteria
- Another genetic disorder identified with hypercalcemia (eg Williams-Beuren syndrome)
- Primary hyperparathyroidism (high PTH)
- neoplasia
- granulomatosis
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Hypercalcemia, whether chronic or acute, exposes the patient to potentially serious complications (arrhythmias, nephrolithiasis, nephrocalcinosis, ...). Prevention relies primarily on effective etiological necessary for taking matched load. Under the French reference center for rare disorders of calcium and phosphorus, the investigators looked for mutations in the coding sequence of the CYP24A1 gene (encoding the enzyme responsible for the breakdown of vitamin D), among patients with hypercalcemia without hyperparathyroidism with hypersensitivity to vitamin D. However, only 25% of these patients have a genetic anomaly suggesting the involvement of other genes (Molin et al. 2015). Recently our team, combined with Kaufmann et al. (2014 JCEM) validated the interest of the determination of metabolites of vitamin D by liquid chromatography-tandem mass spectrometry (LC-MS / MS), as biological pre-screening stage for patients with hypercalcemia.
The objective of this project is to complement the molecular and biochemical studies of patients without mutation of the coding sequence of CYP24A1, in a gene candidate approach using massively parallel sequencing (MPS) which allows to study a panel of gene potentially involved in disorder of metabolism of calcium and phosphorus. Highlighted variations will be tested in silico, and if possible in vitro. The investigators will also use LC-MS / MS to evaluate in vivo the effects of these variations on the metabolism of vitamin D, to develop a genotype / phenotype correlation.
The work carried out within the Genetics Department Caen University Hospital in collaboration with physicians of the rare disease reference center of the metabolism of calcium and phosphorus should identify new genetic mechanisms underlying hypercalcemia. At the time of development of personalized medicine, it will adapt the therapy in patients at risk for metabolic complications and / or kidney following administration of vitamin D and finally to offer genetic counseling.
- Conditions
- Hypercalcemia
- Being tested
- genetic analysis with massively parallel sequencing
- Medical subject headings
- Hypercalcemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
genetic analysis with massively parallel sequencingGenetic
What is being measured
The primary outcome is the main question the study is designed to answer.
number of identified genetic variations presumed pathogenic
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Sep 2016 (estimated)
- Study startDec 2015
- Primary completionApr 2017
- Study completionDec 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HypercalcemiaStudies of the same condition, open and under way.
- More trials run by University Hospital, CaenThe sponsor's other registered studies.
- 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
- Other
- Enrolment
- 185 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Caen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02908542
- Sponsor's protocol ID
- 16-048
- Acronym
- HyCaGene
- Status last verified
- Sep 2016
- First submitted
- 5 Sep 2016
- Last updated
- 2 Aug 2021
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: The data will be communicated to the referent physician of the patient.
Study at a glance
From the registry record, last updated by the sponsor on 2 Aug 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel
- ClinicalTrials.gov ID
- NCT02908542
- Acronym / sponsor ID
- HyCaGene / 16-048
- Conditions
- Hypercalcemia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 185 participants (actual)
- Lead sponsor
- University Hospital, CaenUniversity, hospital or other
- Study start
- Dec 2015
- Primary completion
- Apr 2017 (actual)
- Study completion
- Dec 2018 (actual)
- First posted
- 21 Sep 2016 (estimated)
- 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.
Hypercalcemia, whether chronic or acute, exposes the patient to potentially serious complications (arrhythmias, nephrolithiasis, nephrocalcinosis, ...). Prevention relies primarily on effective etiological necessary for taking matched load. Under the French reference center for rare disorders of calcium and phosphorus, the investigators looked for mutations in the coding sequence of the CYP24A1 gene (encoding the enzyme responsible for the breakdown of vitamin D), among patients with hypercalcemia without hyperparathyroidism with hypersensitivity to vitamin D. However, only 25% of these patients have a genetic anomaly suggesting the involvement of other genes (Molin et al. 2015). Recently our team, combined with Kaufmann et al. (2014 JCEM) validated the interest of the determination of metabolites of vitamin D by liquid chromatography-tandem mass spectrometry (LC-MS / MS), as biological pre-screening stage for patients with hypercalcemia.
The objective of this project is to complement the molecular and biochemical studies of patients without mutation of the coding sequence of CYP24A1, in a gene candidate approach using massively parallel sequencing (MPS) which allows to study a panel of gene potentially involved in disorder of metabolism of calcium and phosphorus. Highlighted variations will be tested in silico, and if possible in vitro. The investigators will also use LC-MS / MS to evaluate in vivo the effects of these variations on the metabolism of vitamin D, to develop a genotype / phenotype correlation.
The work carried out within the Genetics Department Caen University Hospital in collaboration with physicians of the rare disease reference center of the metabolism of calcium and phosphorus should identify new genetic mechanisms underlying hypercalcemia. At the time of development of personalized medicine, it will adapt the therapy in patients at risk for metabolic complications and / or kidney following administration of vitamin D and finally to offer genetic counseling.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with medical history of hypercalcemia without hyperparathyroidism
Key inclusion criteria (6 listed)
- Chronic hypercalcemia or at least one episode of acute hypercalcemia not linked to hyperparathyroidism
- Consent to the realization of a genetic analysis for medical purposes Non-inclusion criteria
- Another genetic disorder identified with hypercalcemia (eg Williams-Beuren syndrome)
- Primary hyperparathyroidism (high PTH)
- neoplasia
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| genetic analysis with massively parallel sequencing | Genetic | – |
Primary outcome
number of identified genetic variations presumed pathogenic
Time frame: 3 years
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 2 Aug 2021.
- Individual participant dataSharing planned: Yes. The data will be communicated to the referent physician of the patient.
Related trials for Hypercalcemia
RecruitingPhase 2
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease
Not yet recruitingPhase 2/3
The GranStone Trial
Paraffinoma, Granuloma, Foreign-Body
RecruitingObservational study
Evaluation of the Role of Luteinizing Hormone (LH) and Human Chorionic Gonadotropin (hCG) in Adult Patients Undergoing Assessment for Endocrine Disorders
Osteoporosis, Hypercalcemia
Recruiting
Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
Idiopathic Infantile Hypercalcemia - Severe Form
RecruitingObservational study
Hypercalcemia After Paraffin Oil Injection
Hypercalcemia, Granuloma
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 Hypercalcemia, run by University Hospital, Caen at 1 site in France.
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 6 inclusion and 0 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 2 Aug 2021. 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 France. 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?
number of identified genetic variations presumed pathogenic (time frame: 3 years). 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 2 Aug 2021.