Genetic Etiology in Patients With Cerebral Palsy

NCT ID: NCT05123768

Last Updated: 2022-11-02

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 150 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-04-01
• Study Completion Date: 2022-11-01

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.

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.

Conditions

Cerebral Palsy; Genetic Disease; Developmental Delay; Metabolism, Inborn Errors

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

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.

NGS

Intervention Type: DIAGNOSTIC_TEST

A genetic panel of more than 100 genes, associated with CP spectrum disorders, will be assessed using NGS

Interventions

NGS

A genetic panel of more than 100 genes, associated with CP spectrum disorders, will be assessed using NGS

Intervention Type: DIAGNOSTIC_TEST

Other Intervention Names

Next gen sequencing

Eligibility Criteria

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.

• Minimum Eligible Age: 5 Years
• Maximum Eligible Age: 25 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Medical Centre Ljubljana

OTHER

Sponsor Role: lead

Responsible Party

Damjan Osredkar

Associate Professor Damjan Osredkar, MD, PhD

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

University Children's Hospital, University Medical Centre Ljubljana

Ljubljana, , Slovenia

Countries

Slovenia

Other Identifiers

0120-142/2021/2

Identifier Type: -

Identifier Source: org_study_id