Genetic Etiology in Patients With Cerebral Palsy

NCT05123768 | Completed

• 1 other identifier: 0120-142/2021/2
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Cerebral palsy; Genetic disease; Neurodevelopmental disorder; Inborn errors of metabolism; Spasticity; Dystonia; Ataxia; Next generation sequencing; Aromatic l-amino acid decarboxylase deficiency

Outcome Measures

Primary Outcomes (1)

• 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.

  2-3 months after collection of DNA samples

Study Arms (1)

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

Interventions

NGS DIAGNOSTIC_TEST

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

Also known as: Next gen sequencing

Patients with cerebral palsy

Eligibility Criteria

• Age: 5 Years - 25 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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.

You may not qualify if:

• Patients who are not diagnosed with cerebral palsy
• Patients whose caregivers have not signed the Informed consent form.

Sponsors & Collaborators

• University Medical Centre Ljubljana: lead

Study Sites (1)

University Children's Hospital, University Medical Centre Ljubljana

Ljubljana, 1000, Slovenia

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA will be extracted from whole blood

MeSH Terms

Conditions

Cerebral Palsy; Genetic Diseases, Inborn; Learning Disabilities; Metabolism, Inborn Errors; Neurodevelopmental Disorders; Muscle Spasticity; Dystonia; Ataxia; Aromatic amino acid decarboxylase deficiency

Condition Hierarchy (Ancestors)

Brain Damage, Chronic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Mental Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Diseases; Musculoskeletal Diseases; Muscle Hypertonia; Neuromuscular Manifestations; Dyskinesias

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor Damjan Osredkar, MD, PhD

Study Record Dates

• First Submitted: November 5, 2021
• First Posted: November 17, 2021
• Study Start: April 1, 2021
• Primary Completion: July 1, 2022
• Study Completion: November 1, 2022
• Last Updated: November 2, 2022

Record last verified: 2022-11

Data Sharing

• IPD Sharing: Will not share

Locations

SL (1)