Genetic Study of Idiopathic Scoliosis in a Cohort of Families (SCOGEN)

• Conditions: Scoliosis Idiopathic
• Interventions: Procedure: Blood sample; Procedure: Spine X-ray

• Registration Number: NCT05116436
• Lead Sponsor: Ramsay Générale de Santé

Brief Summary

This study will focus on a large cohort of multiplex families, to precisely identify candidate genes. The fact of have a large database (fifty families, collected by the principal investigator for more than two decades), will contribute to the discovery of genes of interest. It will also allow testing for the presence or absence of mutations found in other cohorts in previous studies. The main objective of this study is to identify genetic abnormalities associated with the presence and severity of idiopathic scoliosis, in families of scoliosis.

Detailed Description

Not available

Study Timeline

• Study Start: 2020-06-06
• Primary Completion: 2021-06-06
• Status Verified: 2021-11
• Study First Submitted: 2021-11-04
• Study First Submitted QC: 2021-11-04
• Last Update Submitted: 2021-11-04
• Study First Posted: 2021-11-11
• Last Update Posted: 2021-11-11
• Study Completion: 2022-06-06

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 43

Inclusion Criteria

Inclusion criteria for "sick" patients:

• Presence of idiopathic scoliosis, diagnosed by a clinical examination by an orthopedic doctor and confirmed by the presence of a Cobb angle greater than 10 ° on radiographs of the spine
• Signed informed consent
• Affiliation to a social security scheme or beneficiary of such a scheme

Inclusion criteria for "healthy relatives":

• Be related to the first or second degree with at least 2 individuals suffering from idiopathic scoliosis, and whose family tree over 3 generations finds at least 3 cases of idiopathic scoliosis
• Do not present with scoliosis (clinical examination by an orthopedic doctor and x-rays of the spine).
• Affiliation to a social security scheme or beneficiary of such a scheme

Exclusion Criteria

Non-inclusion criteria for "sick" patients:

• Be part of one of the following categories of vulnerable people: protected adults, adults unable to express their consent and not subject to a protection measure, pregnant women, parturients and nursing mothers, people deprived of their liberty, people hospitalized without consent, people admitted to a health or social establishment for purposes other than research
• Suspicion of scoliosis secondary to clinical examination

Non-inclusion criteria for "healthy relatives":

• Be part of one of the following categories of vulnerable people: protected adults, adults unable to express their consent and not subject to a protection measure, pregnant women, parturients and nursing mothers, people deprived of their liberty, people hospitalized without consent, people admitted to a health or social establishment for purposes other than research
• Discovery of scoliosis during research (if scoliosis of an idiopathic nature: patient included in the cohort of patients, if secondary scoliosis: exclusion from the family).

All patients :

Pregnancy in progress or desired with discontinuation of contraception (contraindication to the realization of x-rays).

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Healthy related patients	Blood sample	-
Healthy related patients	Spine X-ray	-
Patient with idiopathic scoliosis	Blood sample	-
Patient with idiopathic scoliosis	Spine X-ray	-

Primary Outcome Measures

Name	Time	Method
Presence of a mutated allele in scoliosis patients versus their healthy relatives.	12 months

Trial Locations

Locations (1)

Clinique Maussins-Nollet; 🇫🇷 Paris, France