Genetic Predisposition in Cerebral Palsy

NCT ID: NCT05317234

Last Updated: 2025-03-03

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 250 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2023-09-08
• Study Completion Date: 2028-03-08

Brief Summary

Cerebral palsy (CP) is a major neurodevelopmental disorder with an estimated prevalence of approximately one in 500 children. It is characterised by permanent developmental disorders of movement and posture, responsible for activity limitations, caused by non-progressive damage to the brain of the fetus, newborn or infant during development. The neurobiological mechanisms involved in CP remain poorly understood, although the interruption of cerebral oxygen supply during pregnancy or at the time of delivery is classically considered to be the main factor causing neurodevelopmental sequelae. CP also occurs in full-term infants without a clearly identifiable etiology.

Data from the literature suggest the existence of other pathophysiological processes than only acquired brain lesions related to pregnancy and delivery, such as genetic or epigenetic factors. According to some research teams, nearly one third of CP could have a genetic cause or could be favoured by genetic variants.

Preliminary research has made significant progress in revealing unusual copy number variants and/or mutations in single genes in children with CP. Several of the identified genes are involved in neurodevelopment and neuronal connectivity. Nevertheless, the identification of these abnormalities in CP may contribute to a better understanding of the pathophysiology of this complex and multifactorial disorder. It could also shed new light on the analysis of medico-legal files and bring encouraging perspectives by targeting new therapeutic interventions.

The main hypothesis is that a certain number of cerebral palsies are related to - or favoured by - genetic abnormalities that we will search for with genetic screening tests.

Conditions

Cerebral Palsy

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: SCREENING
• Blinding Strategy: NONE

Study Groups

children with cerebral palsy

Patients between 2 and 15 years old, born after 34 weeks' gestation, with a diagnosis of cerebral palsy.

Group Type: EXPERIMENTAL

Whole-exome sequencing

Intervention Type: GENETIC

The whole-exome sequencing will be performed via a blood sample from a patient with a diagnosis of cerebral palsy.

Interventions

Whole-exome sequencing

The whole-exome sequencing will be performed via a blood sample from a patient with a diagnosis of cerebral palsy.

Intervention Type: GENETIC

Eligibility Criteria

Inclusion Criteria

• Child between 2 and 15 years old with a clinical diagnostic of cerebral paralysis with unilateral or bilateral somatic involvement
• Child born from 34 SA
• Agreement of the legal representatives for the genetic study
• Both parents available for a parental genetic study (if detection of class 3 variant)
• Affiliation to the social security system

Exclusion Criteria

• Genetic syndrome identified or malformative or infectious etiologies identified
• Neonatal encephalopathy criteria in a clear obstetrical etiological context responsible for major perinatal anoxia with Sarnat 2 or 3
• Unilateral motor disorders in perinatal stroke of identified etiology (coagulation anomaly)

• Minimum Eligible Age: 2 Years
• Maximum Eligible Age: 15 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hospices Civils de Lyon

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Service de Médecine Physique et Réadaptation Pédiatrique - Hôpital Femme-Mère-Enfant

Bron, , France

Site Status: RECRUITING

Service de médecine physique et réadaptative pédiatrique, Pôle pédiatrie-Génétique - Hôpital Couple-Enfant

Grenoble, , France

Site Status: NOT_YET_RECRUITING

Countries

France

Central Contacts

Cyril Huissoud, Pr

Role: CONTACT

Cyril.huissoud@chu-lyon.fr

+33427856565

Fanny Joubert

Role: CONTACT

Fanny.joubert@chu-lyon.fr

+33426732727

Facility Contacts

Carole VUILLEROT, MD

Role: primary

carole.vuillerot@chu-lyon.fr

+33 4 72 12 94 50

Véronique BOURG, MD

Role: primary

vbourg@chu-grenoble.fr

04 76 76 93 60 ext. +33

Other Identifiers

69HCL21_0849

Identifier Type: -

Identifier Source: org_study_id