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Looking for genetic causes in children with cerebral palsy

Uses whole-exome sequencing to look for genetic changes in children with cerebral palsy.

Key facts

Who runs it
Hospices Civils de Lyon
Where
Bron and Grenoble, FranceSee the 2 sites
Trial code
Registry title
Genetic Predisposition in Cerebral Palsy
Status
Recruiting
People taking part
250 people, planned
Started
8 Sept 2023
Expected to end
8 Mar 2028
Type of study
Interventional
Treatments tested
  • Whole-exome sequencing
Record updated
3 March 2025

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for children with cerebral palsy, to search for genetic changes using whole-exome sequencing (a genetic test).

Age
2 to 15 years
Sex
All
Disease stage
Cerebral palsy diagnosed by a doctor, affecting one side or both sides of the body. The child was born from 34 weeks of pregnancy.

Main reasons for not taking part

  • A known genetic syndrome, or a known cause such as a malformation or infection
  • Brain damage at birth from a clear lack of oxygen during delivery (Sarnat 2 or 3)
  • Movement problems on one side from a stroke around birth with a known cause, such as a blood clotting problem
  • Both parents not available for a parental genetic test, if needed
  • No consent from the legal representatives, or no social security coverage

The registry criteria, word for word

Show all 8 criteriaShow less

Who can take part

  • 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

Who cannot take part

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

Check if you might fit

Answer for yourself. This is not a decision: only the study team can say whether you can take part.

  • Are you between 2 and 15 years old?

Where in France

  • Service de Médecine Physique et Réadaptation Pédiatrique - Hôpital Femme-Mère-EnfantBron, FranceContact: Carole VUILLEROT, MDTaking people
  • Service de médecine physique et réadaptative pédiatrique, Pôle pédiatrie-Génétique - Hôpital Couple-EnfantGrenoble, FranceContact: Véronique BOURG, MDNot yet recruiting

About the trial

What the trial wants to find out

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.

Read full original descriptionShow less

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.

The group in the trial

  • children with cerebral palsyTreatment being tested

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

    Treatment: Whole-exome sequencing

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
Genetic Predisposition in Cerebral Palsy
Plain-language title
Looking for genetic causes in children with cerebral palsyGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 14 November 2026.
Fit questions
Built from NCT05317234, who can take part
Record updated
3 March 2025