GenCP: Genetic Etiology in Patients With Cerebral Palsy

Sponsor
University Medical Centre Ljubljana (Other)
Overall Status
Enrolling by invitation
CT.gov ID
NCT05123768
Collaborator
(none)
200
1
21
9.5

Study Details

Study Description

Brief 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. 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.

Condition or Disease Intervention/Treatment Phase
  • Diagnostic Test: NGS

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

Study Type:
Observational [Patient Registry]
Anticipated Enrollment :
200 participants
Observational Model:
Cohort
Time Perspective:
Cross-Sectional
Official Title:
Evaluation of Genetic Etiology in Patients With Cerebral Palsy
Actual Study Start Date :
Apr 1, 2021
Anticipated Primary Completion Date :
Jul 1, 2022
Anticipated Study Completion Date :
Jan 1, 2023

Arms and Interventions

Arm Intervention/Treatment
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.

Diagnostic Test: NGS
A genetic panel of more than 100 genes, associated with CP spectrum disorders, will be assessed using NGS
Other Names:
  • Next gen sequencing
  • Outcome Measures

    Primary Outcome Measures

    1. Identification of genetic etiology [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.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    5 Years to 25 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:
    • 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.

    Exclusion Criteria:
    • Patients who are not diagnosed with cerebral palsy

    • Patients whose caregivers have not signed the Informed consent form.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 University Children's Hospital, University Medical Centre Ljubljana Ljubljana Slovenia 1000

    Sponsors and Collaborators

    • University Medical Centre Ljubljana

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Damjan Osredkar, Associate Professor Damjan Osredkar, MD, PhD, University Medical Centre Ljubljana
    ClinicalTrials.gov Identifier:
    NCT05123768
    Other Study ID Numbers:
    • 0120-142/2021/2
    First Posted:
    Nov 17, 2021
    Last Update Posted:
    Nov 24, 2021
    Last Verified:
    Nov 1, 2021
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by Damjan Osredkar, Associate Professor Damjan Osredkar, MD, PhD, University Medical Centre Ljubljana
    Additional relevant MeSH terms:

    Study Results

    No Results Posted as of Nov 24, 2021