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

Completed

• Conditions: Amyotrophic Lateral Sclerosis

• Registration Number: NCT02893605
• Lead Sponsor: Centre Hospitalier Universitaire de Nīmes

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 available

Study Timeline

• Study Start: 2014-03
• Status Verified: 2016-08
• Study First Submitted: 2016-08-30
• Study First Submitted QC: 2016-09-02
• Study First Posted: 2016-09-08
• Primary Completion: 2017-05
• Study Completion: 2017-05
• Last Update Submitted: 2017-07-18
• Last Update Posted: 2017-07-19

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 800

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).

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Trial Locations

Locations (1)

CHU de Montpellier - Hôpital Gui de Chauliac; 🇫🇷 Montpellier Cedex 5, France