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Genetic variation in patients with cerebral palsy

Sequence variants in muscle tissue related genes may determine the severity of muscle contractures in cerebral palsy

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ISRCTN
Registry ID
ISRCTN15926751
Enrollment
48
Registered
2017-06-07
Start date
2015-12-01
Completion date
Unknown
Last updated
2017-07-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cerebral palsy Nervous System Diseases Muscle contractures in cerebral palsy patients

Interventions

Blood samples are taken from 28 individuals with cerebral palsy (CP) and four healthy control reference participants. DNA is extracted from anticoagulated whole blood using the QIAamp DNA Mini Kit (Qi

Sponsors

University of Copenhagen
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: Cerebral palsy (CP) group: 1. Patients with cerebral palsy in all severity of CP 2. The patient is either over 18 years of age or 3. The patient's parents are legitimate Healthy participants: 1. Healthy subjects 2. The test person is over 18 years old and authoritative 3. The subjects have no previous musculoskeletal disorders

Exclusion criteria

Exclusion criteria: Cerebral palsy (CP) group: Individuals with CP without contractures. Healthy participants: 1. Previous brain injuries 2. Skeletal muscle diseases

Design outcomes

Primary

MeasureTime frame
Genetic variants of 96 candidate genes are measured using next generation sequencing and then aligned to a human reference gene (hg19) following the study visit.

Secondary

MeasureTime frame
Gross motor function is assessed through collection of Gross Motor Function Classification System (GMFCS) scores at the study visit.

Countries

Denmark

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026