Cerebral PalsyPREGENE PCNCT05317234
Genetic Predisposition in Cerebral Palsy
A study testing Whole-exome sequencing in people with Cerebral Palsy, run by Hospices Civils de Lyon at 2 sites in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 2 to 15 years
- Conditions the study is for
- Cerebral Palsy
- What is being tested?
- Whole-exome sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 250 participants
- Where
- 2 sitesFrance
- Study dates
- 8 Sep 2023to 8 Mar 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 15 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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 join
- 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)
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites, 2 recruiting
- Recruiting
Service de Médecine Physique et Réadaptation Pédiatrique - Hôpital Femme-Mère-Enfant
Bron, 69677
Carole VUILLEROT, MD, +33 4 72 12 94 50, carole.vuillerot@chu-lyon.fr
- Not yet recruiting
Service de médecine physique et réadaptative pédiatrique, Pôle pédiatrie-Génétique - Hôpital Couple-Enfant
Grenoble
Véronique BOURG, MD, 04 76 76 93 60 ext. +33, vbourg@chu-grenoble.fr
About this study
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.
Read more
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
- Being tested
- Whole-exome sequencing
- Keywords
- Cerebral Palsy, Genetic predisposition, Neurodevelopmental disorder
- Medical subject headings
- Cerebral Palsy, Genetic Predisposition to Disease, Neurodevelopmental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole-exome sequencingGenetic
The whole-exome sequencing will be performed via a blood sample from a patient with a diagnosis of cerebral palsy.
| Study group | Role | What they receive |
|---|---|---|
| children with cerebral palsy | Experimental | Patients between 2 and 15 years old, born after 34 weeks' gestation, with a diagnosis of cerebral palsy. Receives: Genetic: Whole-exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Until the end of study, an average of 4.5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Apr 2022
- Study start8 Sep 2023
- Primary completion8 Mar 2028 (estimated)
- Study completion8 Mar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cerebral PalsyStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Patients between 2 and 17 years old, born from 34 weeks' gestation, with a diagnosis of cerebral palsy.
- Masking
- None (open label)
- Enrolment
- 250 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05317234
- Sponsor's protocol ID
- 69HCL21_0849
- Acronym
- PREGENE PC
- Status last verified
- Feb 2025
- First submitted
- 22 Mar 2022
- Last updated
- 3 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Predisposition in Cerebral Palsy
- ClinicalTrials.gov ID
- NCT05317234
- Acronym / sponsor ID
- PREGENE PC / 69HCL21_0849
- Conditions
- Cerebral Palsy
- Keywords
- Cerebral Palsy, Genetic predisposition, Neurodevelopmental disorder
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 250 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 8 Sep 2023 (actual)
- Primary completion
- 8 Mar 2028 (estimated)
- Study completion
- 8 Mar 2028 (estimated)
- First posted
- 7 Apr 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Patients between 2 and 17 years old, born from 34 weeks' gestation, with a diagnosis of cerebral palsy.
| Arm | Type | Receives |
|---|---|---|
| children with cerebral palsy | Experimental | Genetic: Whole-exome sequencingPatients between 2 and 15 years old, born after 34 weeks' gestation, with a diagnosis of cerebral palsy. |
Who may qualify
- Ages
- 2 to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (3 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole-exome sequencingThe whole-exome sequencing will be performed via a blood sample from a patient with a diagnosis of cerebral palsy. | Genetic | children with cerebral palsy |
Primary outcome
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.
Time frame: Until the end of study, an average of 4.5 years
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Mar 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Whole-exome sequencing in people with Cerebral Palsy, run by Hospices Civils de Lyon at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Cyril Huissoud, Pr (+33427856565, Cyril.huissoud@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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. (time frame: Until the end of study, an average of 4.5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Mar 2025.