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| Name | Class |
|---|---|
| European Clinical Trial Experts Network | OTHER |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patient with idiopathic scoliosis |
| ||
| Healthy related patients |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood sample | Procedure | It will test the presence or absence of genetic mutations found in other cohorts in previous studies. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Presence of a mutated allele in scoliosis patients versus their healthy relatives. | 12 months |
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Inclusion Criteria:
Inclusion criteria for "sick" patients:
Inclusion criteria for "healthy relatives":
Exclusion Criteria:
Non-inclusion criteria for "sick" patients:
Non-inclusion criteria for "healthy relatives":
All patients :
Pregnancy in progress or desired with discontinuation of contraception (contraindication to the realization of x-rays).
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Families : patients with idiopathic scoliosis and their relatives
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jean-François Oudet | Contact | 0683346567 | jf.oudet@ecten.eu | |
| Marie-Hélène Barba | Contact | mh.barba@ecten.eu |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Clinique Maussins-Nollet | Recruiting | Paris | 75019 | France |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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| Spine X-ray | Procedure | To determine the scoliosis |
|
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |