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RecruitingNCT05317234PREGENE PCUpdated Mar 3, 2025

Genetic Predisposition in Cerebral Palsy

An interventional study of Whole-exome sequencing in Cerebral Palsy, sponsored by Hospices Civils de Lyon. Recruiting at 2 sites in France. Open to participants aged 2 Years to 15 Years. Per ClinicalTrials.gov, last updated 2025-03-03.

Sponsored by Hospices Civils de Lyon · Not applicable, Interventional, and Screening

From the registry’s dates

  • Started Sep 2023; still recruiting 3 years 2 months later.
Phase
Not applicable
Study type
Interventional
Enrollment
250
Allocation
Not applicable
Ages
2 Years to 15 Years
Sex
All
01

Where this study stands

Counted across the records on this site · 2026-11-12

Among 12 studies in Cerebral Palsy by Hospices Civils de Lyon — 4 open to participants now, 4 under way, none of them phase 3. Cerebral Palsy · Hospices Civils de Lyon.

Started
2023
the only one that year
No phase
5 of 12
2 open now
Registered
9th of 12
by date

Among the 12 studies in Cerebral Palsy by Hospices Civils de Lyon, this one is the only one that started in 2023, is one of 5 with no phase, and was the 9th registered.

By phase

12 studies; the count open now beside each. This study's row is marked.

No phasethis study5 · 2 open
Observational5 · 2 open
Phase 2/31 · 0 open
Phase 31 · 0 open

By the year they started

First in 2005; this study’s year is marked. 1 started in 2023.

Size and results

Median enrollment 23 across the 7 interventional studies, 150 across the 5 observational. Of the 8 that completed or were terminated, 0 (0%) have results posted.

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Watch this landscapeDownload CSVWith an account: a weekly mail of what changed among 12 studies in Cerebral Palsy by Hospices Civils de Lyon, or all of them as a file.
02

Study 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.

03

Conditions studied

  • Cerebral Palsy

Keywords

  • Cerebral Palsy
  • Genetic predisposition
  • Neurodevelopmental disorder
04

Who can participate

Ages eligible
2 Years to 15 Years
Sexes eligible
All
Accepts healthy volunteers
No

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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

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)
05

Study design

Phase
Not applicable
Primary purpose
Screening
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
250 participants (estimated)

Study arms

  • Experimental
    children with cerebral palsy

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

    Genetic: Whole-exome sequencing

Interventions

  • GeneticWhole-exome sequencing

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

06

What researchers measure

Primary outcomes

  1. Proportion of patients for whom a significant genetic variant was identified on the exome by the High-throughput sequencing technique after comparison with the databases of human polymorphisms and pathogenic variants up to date during the analysis.

    Are considered positive for a significant genetic variant, patients for whom a or several class 4 or 5 variants have been identified, and explain the phenotype of pc. Genetic variants will be classified according to the recommendations of the American College of Genetics Medical (ACMG: American College of Medical Genetics) from 1 to 5.

    Time frame: Until the end of study, an average of 4.5 years

07

Study locations

1 of 2 sites recruiting
  • Service de Médecine Physique et Réadaptation Pédiatrique - Hôpital Femme-Mère-Enfant
    Bron, 69677, France
    Recruiting
  • Service de médecine physique et réadaptative pédiatrique, Pôle pédiatrie-Génétique - Hôpital Couple-Enfant
    Grenoble, France
    Not yet recruiting
08

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Started Sep 2023 (actual). Primary completion is estimated for Mar 2028, 54 months after the start.

Of 902 non-industry interventional studies with no phase under Cerebral Palsy, half reached primary completion within 12 months of starting (the median), counting those still running; a quarter within 5 and three quarters within 31. This study's planned 54 months is above that.

Counting every sponsor, half of 921 studies reached it within 12 months; a quarter within 5 and three quarters within 31.

How these figures are worked out, and which studies are left out of them.

Registered
Mar 22, 2022
First posted
Apr 7, 2022
StartActual
Sep 8, 2023
Primary completionEst.
Mar 8, 2028
CompletionEst.
Mar 8, 2028
Last update
Mar 3, 2025
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Mar 3, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT05317234
Responsible party
Sponsor
First posted
Apr 7, 2022
Start date
Sep 8, 2023
Primary completion
Mar 8, 2028 (estimated)
Completion
Mar 8, 2028 (estimated)
Last update
Mar 3, 2025

Study contacts

Cyril Huissoud, Pr
Contact
Cyril.huissoud@chu-lyon.fr
+33427856565
Fanny Joubert
Contact
Fanny.joubert@chu-lyon.fr
+33426732727

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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