Study of Gene Polymorphisms Involved in the Metabolism an... | NCT02893605

Studies
Study of Gene Polymorphisms Involved in the Metabolism and Action of Vitamin D in Amyotrophic Lateral Sclerosis

NCT02893605

Sponsor

Centre Hospitalier Universitaire de Nīmes

Status

Completed

Last Update Posted

Nov 21, 2025Actual

Enrollment

800Actual

Phase

Not provided

Conditions

Amyotrophic Lateral Sclerosis

Interventions

Not provided

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Aug 2016

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 2014

Primary Completion Date

Dec 31, 2022Actual

Completion Date

Dec 31, 2022Actual

First Submitted Date

Aug 30, 2016

First Submission Date that Met QC Criteria

Sep 2, 2016

First Posted Date

Sep 8, 2016Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Nov 18, 2025

Last Update Posted Date

Nov 21, 2025Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

This is a case-control study performed on a biological collection. The polymorphisms present on a pre-defined list of genes will be studied for 400 Amyotrophic Lateral Sclerosis (sporadic type) DNA samples and 400 control DNA samples.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

800Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Cases		Patients have a sporadic form of Amyotrophic Lateral Sclerosis.
Controls		Controls correspond to spouses/partners of patients.

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
The polymorphisms occurring on a pre-defined set of genes	The genes studied are: CYP2R1, CYP27A1, CYP3A4, CYP2J2, CYP27B1, CYP24A1, VDBP, VDR.	Day 0 (transversal study)

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

The primary inclusion criterium is the same for that of the parent biological collection, i.e. the patients fulfill requirements for probable or definite Amyotrophic Lateral Sclerosis as defined by revised international criteria (Brooks et al 2000).
Additionally, included patients were followed-up by doctors at the University Hospital of Montpellier, thus enabling verification of Amyotrophic Lateral Sclerosis criteria over time.

Exclusion Criteria:

The patient has a familial form of Amyotrophic Lateral Sclerosis (autosomic dominant or recessive types) with or without a mutation of one of the 3 genes known to be responsible for familial forms (SOD1, TARDBP, FUS). See Bender (1998).

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

A national biological (France) collection has been in existence since 1996 and serves as a source for patient and control samples. Patients have a sporadic form of Amyotrophic Lateral Sclerosis and controls are their spouses/partners.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Kevin Mouzat, MD, PhD	Centre Hospitalier Universitaire de Nīmes	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
CHU de Montpellier - Hôpital Gui de Chauliac		Montpellier		34295	France

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
27510420	Result	Mouzat K, Raoul C, Polge A, Kantar J, Camu W, Lumbroso S. Liver X receptors: from cholesterol regulation to neuroprotection-a new barrier against neurodegeneration in amyotrophic lateral sclerosis? Cell Mol Life Sci. 2016 Oct;73(20):3801-8. doi: 10.1007/s00018-016-2330-y. Epub 2016 Aug 10.

ID	Term
D013118	Spinal Cord Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases
D016472	Motor Neuron Disease