An observational study in Hypercalcemia, sponsored by University Hospital, Caen. Completed at 1 site in France. Per ClinicalTrials.gov, last updated 2021-08-02.
Sponsored by University Hospital, Caen · Observational
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.
51 studies on the registry are indexed under Hypercalcemia; 9 are open to participants now.
This study's enrollment of 185 is close to the median of 193 across 14 observational studies indexed under Hypercalcemia.
Browse Hypercalcemia studies →University Hospital, Caen is the lead sponsor of 512 studies on the registry; 82 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with medical history of hypercalcemia without hyperparathyroidism
Inclusion criteria
number of identified genetic variations presumed pathogenic
Time frame: 3 years
Plan to share: Yes — The data will be communicated to the referent physician of the patient.
No publications or documents are linked to this record.
The record gives a start of Dec 2015, a primary completion of Apr 2017 and a completion of Dec 2018. It does not say whether these dates are actual or estimated.
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This study is completed, as verified in Sep 2016. You cannot join it, but the record below documents what was studied.
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