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

Study Overview
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Brief Summary
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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.

Official Title
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Genetic Study of Idiopathic Scoliosis in a Cohort of Families

Conditions
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Scoliosis Idiopathic

Intervention / Treatment
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* Procedure: Blood sample
* Procedure: Spine X-ray


Participation Criteria
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Eligibility Criteria
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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).

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patient with idiopathic scoliosis<br> | Procedure: Blood sample<br>* It will test the presence or absence of genetic mutations found in other cohorts in previous studies.<br>Procedure: Spine X-ray<br>* To determine the scoliosis<br>|
| Healthy related patients<br> | Procedure: Blood sample<br>* It will test the presence or absence of genetic mutations found in other cohorts in previous studies.<br>Procedure: Spine X-ray<br>* To determine the scoliosis<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Presence of a mutated allele in scoliosis patients versus their healthy relatives. |  | 12 months |