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

NCT ID: NCT05116436

Last Updated: 2021-11-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

43 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-06-06

Study Completion Date

2022-06-06

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.

Detailed Description

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Conditions

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Scoliosis Idiopathic

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

OTHER

Study Groups

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Patient with idiopathic scoliosis

Blood sample

Intervention Type PROCEDURE

It will test the presence or absence of genetic mutations found in other cohorts in previous studies.

Spine X-ray

Intervention Type PROCEDURE

To determine the scoliosis

Healthy related patients

Blood sample

Intervention Type PROCEDURE

It will test the presence or absence of genetic mutations found in other cohorts in previous studies.

Spine X-ray

Intervention Type PROCEDURE

To determine the scoliosis

Interventions

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Blood sample

It will test the presence or absence of genetic mutations found in other cohorts in previous studies.

Intervention Type PROCEDURE

Spine X-ray

To determine the scoliosis

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

* 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


* 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


* 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


* 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).
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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European Clinical Trial Experts Network

OTHER

Sponsor Role collaborator

Ramsay Générale de Santé

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Clinique Maussins-Nollet

Paris, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Jean-François Oudet

Role: CONTACT

Phone: 0683346567

Email: [email protected]

Marie-Hélène Barba

Role: CONTACT

Email: [email protected]

Facility Contacts

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Jean-François Oudet

Role: primary

Marie-Hélène Barba

Role: backup

Other Identifiers

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2019-A03136-51

Identifier Type: -

Identifier Source: org_study_id