Working… Menu

Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel (HyCaGene)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02908542
Recruitment Status : Unknown
Verified September 2016 by AMOLIN, University Hospital, Caen.
Recruitment status was:  Recruiting
First Posted : September 21, 2016
Last Update Posted : September 21, 2016
Information provided by (Responsible Party):
AMOLIN, University Hospital, Caen

Brief 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. 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.

Condition or disease Intervention/treatment
Hypercalcemia Genetic: genetic analysis with massively parallel sequencing

Layout table for study information
Study Type : Observational
Estimated Enrollment : 75 participants
Observational Model: Cohort
Official Title: Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel
Study Start Date : December 2015
Estimated Primary Completion Date : April 2017
Estimated Study Completion Date : December 2017

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. number of identified genetic variations presumed pathogenic [ Time Frame: 3 years ]

Biospecimen Retention:   Samples With DNA
blood or DNA samples

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with medical history of hypercalcemia without hyperparathyroidism

Inclusion criteria

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02908542

Layout table for location information
Caen Hospital University Recruiting
Caen, France, 14033
Contact: Arnaud Molin Molin, MD    +33231064502   
Contact: Marie Laure Kottler, MD, PhD    +33231062417   
Sponsors and Collaborators
University Hospital, Caen

Layout table for additonal information
Responsible Party: AMOLIN, Dr, University Hospital, Caen Identifier: NCT02908542     History of Changes
Other Study ID Numbers: 16-048
First Posted: September 21, 2016    Key Record Dates
Last Update Posted: September 21, 2016
Last Verified: September 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: The data will be communicated to the referent physician of the patient.
Additional relevant MeSH terms:
Layout table for MeSH terms
Calcium Metabolism Disorders
Metabolic Diseases
Water-Electrolyte Imbalance