NCT05116436

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
43

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jun 2020

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 6, 2020

Completed
1 year until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 6, 2021

Completed
5 months until next milestone

First Submitted

Initial submission to the registry

November 4, 2021

Completed
7 days until next milestone

First Posted

Study publicly available on registry

November 11, 2021

Completed
7 months until next milestone

Study Completion

Last participant's last visit for all outcomes

June 6, 2022

Completed
Last Updated

November 11, 2021

Status Verified

November 1, 2021

Enrollment Period

1 year

First QC Date

November 4, 2021

Last Update Submit

November 4, 2021

Conditions

Scoliosis Idiopathic

Outcome Measures

Primary Outcomes (1)

  • Presence of a mutated allele in scoliosis patients versus their healthy relatives.

    12 months

Study Arms (2)

Patient with idiopathic scoliosis

Procedure: Blood sampleProcedure: Spine X-ray

Healthy related patients

Procedure: Blood sampleProcedure: Spine X-ray

Interventions

Blood samplePROCEDURE

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

Healthy related patientsPatient with idiopathic scoliosis
Spine X-rayPROCEDURE

To determine the scoliosis

Healthy related patientsPatient with idiopathic scoliosis

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Families : patients with idiopathic scoliosis and their relatives

You may qualify if:

  • 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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Clinique Maussins-Nollet

Paris, 75019, France

RECRUITING

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Central Study Contacts

Jean-François Oudet

CONTACT

0683346567jf.oudet@ecten.eu

Marie-Hélène Barba

CONTACT

mh.barba@ecten.eu

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 4, 2021

First Posted

November 11, 2021

Study Start

June 6, 2020

Primary Completion

June 6, 2021

Study Completion

June 6, 2022

Last Updated

November 11, 2021

Record last verified: 2021-11

Locations

FR(1)