Cerebral PalsyGenCPNCT05123768
Genetic Etiology in Patients With Cerebral Palsy
An observational study of Cerebral Palsy and Genetic Disease, run by University Medical Centre Ljubljana at 1 site in Slovenia.
Trial summary
Cerebral palsy (CP) is a permanent disorder of movement or posture due to non-progressive impairments of the developing brain. Current estimates indicate that as many as 30% of CP cases may be genetic in nature. Read more about this study
- Who is it for?
- Ages 5 to 25 years
- Conditions the study is for
- Cerebral Palsy, Genetic Disease, Developmental Delay
- What is being tested?
- NGS
- How many people
- 150 participants
- Where
- 1 siteSlovenia
- Study dates
- 1 Apr 2021to 1 Nov 2022
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- None posted in the registry
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 5 to 25 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: The study will enroll and collect data from children with cerebral palsy of any grade (I-V) who are included in the Slovenian National Register of Cerebral Palsy (SRCP) and whose parents/caregivers were informed about the aims of the study and have signed the Informed consent form.
Who may be able to join
- Children with cerebral palsy who are included in the Slovenian National Register of Cerebral Palsy (SRCP)
- Patients whose parents/caregivers were informed about the aims of the study and have signed the Informed consent form.
Who cannot join
- Patients who are not diagnosed with cerebral palsy
- Patients whose caregivers have not signed the Informed consent form.
Trial locations and contacts
1 site in 1 country.
Slovenia1 site
University Children's Hospital, University Medical Centre Ljubljana
Ljubljana, 1000
About this study
Official title: Evaluation of Genetic Etiology in Patients With Cerebral Palsy
Cerebral palsy (CP) is a permanent disorder of movement or posture due to non-progressive impairments of the developing brain. Current estimates indicate that as many as 30% of CP cases may be genetic in nature. In our study, the investigators will re-examine the data of children with CP, who are registered in the Slovenian National Registry of Cerebral Palsy. All children will be invited to the University Children's Hospital, University Medical Centre Ljubljana, where they will be re-examined by a neurologist. Blood for genetic testing will be taken. In the case of confirmed genetic ethiology of CP, the search for specific therapy will be possible.
Read the detailed description
Cerebral palsy (CP) is a permanent disorder of movement or posture due to non-progressive impairments of the developing brain. In children, CP is the most common cause of motor impairment, which is often accompanied by other disorders such as epilepsy, mental retardation, speech and language disorders, eating disorders, visual and hearing disorders, and behavioral disorders. Approximately 1 child in every 500 live births is diagnosed with cerebral palsy.
The causes of CP are usually related to inadequate blood flow and oxygen supply to the baby's central nervous system during pregnancy or birth, complications of premature birth, and other complications in the neonatal period such as respiratory distress, infections, or jaundice. It is estimated that in up to one third of children with CP the cause is unexplained. The cause of CP in these children may also be rare genetic diseases. For some of these diseases a targeted treatment is available.
In Slovenia, all children with CP, born since 1996, are included in the Slovenian National Registry of Cerebral Palsy (SRCP), which is part of the European registry - Surveillance of Cerebral Palsy in Europe (SCPE). Children are entered into the register at University Children's Hospital, University Medical Centre Ljubljana at the age of 5, after prior parental consent, otherwise anonymously.
In our study, the investigators will re-examine the data of children with CP, who are registered in the SRCP. All children will be invited to the University Children's Hospital, University Medical Centre Ljubljana, where they will be re-examined by a neurologist. With the consent of the patient or his/her parent/guardian, blood for genetic test will be taken. Utilising next gen sequencing (NGS), a gene panel of more than 100 genes associated with the CP spectrum disorders will be performed. In the case of confirmed genetic ethiology of CP, the search for specific therapy will be possible.
- Being tested
- NGS
- Keywords
- Cerebral palsy, Genetic disease, Neurodevelopmental disorder, Inborn errors of metabolism, Spasticity, Dystonia, Ataxia, Next generation sequencing, Aromatic l-amino acid decarboxylase deficiency
- Medical subject headings
- Cerebral Palsy, Genetic Diseases, Inborn, Learning Disabilities, Metabolism, Inborn Errors, Neurodevelopmental Disorders, Muscle Spasticity, Dystonia, Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NGSDiagnostic test
Also called Next gen sequencing
A genetic panel of more than 100 genes, associated with CP spectrum disorders, will be assessed using NGS
| Study group | Role | What they receive |
|---|---|---|
| Patients with cerebral palsy | In Slovenia, all children with cerebral palsy born in 1996 or later are included in the Slovenian National Registry of Cerebral Palsy. All patients from the Registry will be invited to participate in the study. Receives: Diagnostic Test: NGS |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of genetic etiology
Next gen sequencing (NGS) will be performed and a panel of over 100 genes will be evaluated for identification of potential genetic etiology.
Measured: 2-3 months after collection of DNA samples
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Nov 2021
- Study start1 Apr 2021
- Primary completion1 Jul 2022
- Study completion1 Nov 2022
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 University Medical Centre LjubljanaThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 150 participants (actual)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- University Medical Centre Ljubljana
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Damjan Osredkar, University Medical Centre Ljubljana
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05123768
- Sponsor's protocol ID
- 0120-142/2021/2
- Acronym
- GenCP
- Status last verified
- Nov 2022
- First submitted
- 5 Nov 2021
- Last updated
- 2 Nov 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Nov 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Genetic Etiology in Patients With Cerebral Palsy
- ClinicalTrials.gov ID
- NCT05123768
- Acronym / sponsor ID
- GenCP / 0120-142/2021/2
- Keywords
- Cerebral palsy, Genetic disease, Neurodevelopmental disorder, Inborn errors of metabolism, Spasticity, Dystonia, Ataxia, Next generation sequencing
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 150 participants (actual)
- Lead sponsor
- University Medical Centre LjubljanaUniversity, hospital or other
- Study start
- 1 Apr 2021 (actual)
- Primary completion
- 1 Jul 2022 (actual)
- Study completion
- 1 Nov 2022 (actual)
- First posted
- 17 Nov 2021 (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 permanent disorder of movement or posture due to non-progressive impairments of the developing brain. Current estimates indicate that as many as 30% of CP cases may be genetic in nature. In our study, the investigators will re-examine the data of children with CP, who are registered in the Slovenian National Registry of Cerebral Palsy. All children will be invited to the University Children's Hospital, University Medical Centre Ljubljana, where they will be re-examined by a neurologist. Blood for genetic testing will be taken. In the case of confirmed genetic ethiology of CP, the search for specific therapy will be possible.
Detailed description
Cerebral palsy (CP) is a permanent disorder of movement or posture due to non-progressive impairments of the developing brain. In children, CP is the most common cause of motor impairment, which is often accompanied by other disorders such as epilepsy, mental retardation, speech and language disorders, eating disorders, visual and hearing disorders, and behavioral disorders. Approximately 1 child in every 500 live births is diagnosed with cerebral palsy.
The causes of CP are usually related to inadequate blood flow and oxygen supply to the baby's central nervous system during pregnancy or birth, complications of premature birth, and other complications in the neonatal period such as respiratory distress, infections, or jaundice. It is estimated that in up to one third of children with CP the cause is unexplained. The cause of CP in these children may also be rare genetic diseases. For some of these diseases a targeted treatment is available.
In Slovenia, all children with CP, born since 1996, are included in the Slovenian National Registry of Cerebral Palsy (SRCP), which is part of the European registry - Surveillance of Cerebral Palsy in Europe (SCPE). Children are entered into the register at University Children's Hospital, University Medical Centre Ljubljana at the age of 5, after prior parental consent, otherwise anonymously.
In our study, the investigators will re-examine the data of children with CP, who are registered in the SRCP. All children will be invited to the University Children's Hospital, University Medical Centre Ljubljana, where they will be re-examined by a neurologist. With the consent of the patient or his/her parent/guardian, blood for genetic test will be taken. Utilising next gen sequencing (NGS), a gene panel of more than 100 genes associated with the CP spectrum disorders will be performed. In the case of confirmed genetic ethiology of CP, the search for specific therapy will be possible.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Target follow-up
- 1 Year
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with cerebral palsy | – | Diagnostic Test: NGSIn Slovenia, all children with cerebral palsy born in 1996 or later are included in the Slovenian National Registry of Cerebral Palsy. All patients from the Registry will be invited to participate in the study. |
Who may qualify
- Ages
- 5 to 25 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- The study will enroll and collect data from children with cerebral palsy of any grade (I-V) who are included in the Slovenian National Register of Cerebral Palsy (SRCP) and whose parents/caregivers were informed about the aims of the study and have signed the Informed consent form.
Key inclusion criteria (2 listed)
- Children with cerebral palsy who are included in the Slovenian National Register of Cerebral Palsy (SRCP)
- Patients whose parents/caregivers were informed about the aims of the study and have signed the Informed consent form.
Key exclusion criteria (2 listed)
- Patients who are not diagnosed with cerebral palsy
- Patients whose caregivers have not signed the Informed consent form.
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 |
|---|---|---|
| NGSAlso: Next gen sequencingA genetic panel of more than 100 genes, associated with CP spectrum disorders, will be assessed using NGS | Diagnostic test | Patients with cerebral palsy |
Primary outcome
Identification of genetic etiology
Time frame: 2-3 months after collection of DNA samples
Next gen sequencing (NGS) will be performed and a panel of over 100 genes will be evaluated for identification of potential genetic etiology.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Nov 2022.
- Individual participant dataSharing planned: No
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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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cerebral Palsy and Genetic Disease, run by University Medical Centre Ljubljana at 1 site in Slovenia.
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 2 inclusion and 2 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: finished, as of the sponsor's last update on 2 Nov 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Slovenia. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genetic etiology (time frame: 2-3 months after collection of DNA samples). 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 2 Nov 2022.