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

Ramsay Générale de Santé

Status

Unknown

Conditions

Scoliosis Idiopathic

Treatments

Procedure: Blood sample

Procedure: Spine X-ray

Study type

Observational

Funder types

Other

Identifiers

NCT05116436

2019-A03136-51

Details and patient eligibility

About

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.

Enrollment

43 estimated patients

Sex

All

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

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).