Genetic Predisposition in Cerebral Palsy

Status: Recruiting
Location: See all (2) locations...
Intervention Type: Genetic
Study Type: Interventional
Study Phase: Not Applicable
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 2
Maximum Age: 15
Healthy Volunteers: f
View:

• 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

Locations
Other Locations
France
Service de Médecine Physique et Réadaptation Pédiatrique - Hôpital Femme-Mère-Enfant
RECRUITING
Bron
Service de médecine physique et réadaptative pédiatrique, Pôle pédiatrie-Génétique - Hôpital Couple-Enfant
NOT_YET_RECRUITING
Grenoble
Contact Information
Primary
Cyril Huissoud, Pr
Cyril.huissoud@chu-lyon.fr
+33427856565
Backup
Fanny Joubert
Fanny.joubert@chu-lyon.fr
+33426732727
Time Frame
Start Date: 2023-09-08
Estimated Completion Date: 2028-03-08
Participants
Target number of participants: 250
Treatments
Experimental: children with cerebral palsy
Patients between 2 and 15 years old, born after 34 weeks' gestation, with a diagnosis of cerebral palsy.
Related Therapeutic Areas
Sponsors
Leads: Hospices Civils de Lyon

This content was sourced from clinicaltrials.gov