Genetic variation in patients with cerebral palsy

ISRCTN	ISRCTN15926751
DOI	https://doi.org/10.1186/ISRCTN15926751
Secondary identifying numbers	01

Submission date: 06/06/2017
Registration date: 07/06/2017
Last edited: 07/06/2017

Recruitment status: No longer recruiting
Overall study status: Completed
Condition category: Nervous System Diseases

Prospectively registered

Protocol

Statistical analysis plan

Results

Individual participant data

Record updated in last year

Plain English summary of protocol

Background and study aims:
Cerebral Palsy (CP) is a term for a number of conditions that affect movement and co-ordination. It occurs when there is a problem in the parts of the brain responsible for controlling muscles. This can be due to abnormal development of the brain or damage caused before, during or after birth. CP leads to a range of symptoms, including muscle stiffness or weakness, random and uncontrolled body movements and balance and coordination problems. Muscle contractures are a common complication of CP, which involve constriction (shortening) in the connective tissues of the body, leading to loss of strength, muscle wasting, pain and rapid fatigue (extreme tiredness). In addition, they cause joints to become fixed in awkward positions, further limiting movement. Patients with muscle contractures often go through numerous extensive operations for joint corrections. The aim of this study is to look at the genes of patients with CP in order to see if there is a genetic explanation for muscle contractures.

Who can participate?
Patients with cerebral palsy and healthy volunteers of the same age.

What does the study involve?
28 patients with CP and four healthy volunteers provide a blood sample which is then used for genetic testing in the laboratory. In addition, 16 CP patients who are having surgery also have sample of tissue collected for further genetic testing.

What are the possible benefits and risks of participating?
There are no direct benefits or risks involved with participating.

Where is the study run from?
1. University of Copenhagen (Denmark)
2. Helene Elsass Center (Denmark)
3. Hvidovre Hospital (Denmark)

When is study starting and how long is it expected to run for?
December 2012 to April 2015

Who is funding the study?
1. Danish Research Council (Denmark)
2. The Elsass Foundation (Denmark)

Who is the main contact?
Dr Jessica Pingel
jpingel@sund.ku.dk

Contact information

Dr Jessica Pingel
Scientific

University of Copenhagen
Blegdamsvej 3.33.3.70
Copenhagen N
2200
Denmark

ORCID ID	0000-0002-9977-094X
Phone	+45 2060 6199
Email	jpingel@sund.ku.dk

Study information

Study design	Observational case-control study
Primary study design	Observational
Secondary study design	Case-control study
Study setting(s)	Hospital
Study type	Other
Scientific title	Sequence variants in muscle tissue related genes may determine the severity of muscle contractures in cerebral palsy
Study objectives	Cerebral palsy patients show differences in genetic variants in targets that are involved in the structure and metabolism of skeletal muscle tissue.
Ethics approval(s)	Regional Ethics Committee for Copenhagen, 30/04/2015, ref: H-4-2014-047
Health condition(s) or problem(s) studied	Cerebral palsy
Intervention	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 (Qiagen, Germany). Furthermore, tissue samples are taken from 16 patients with CP during surgery and the DNA is extracted from muscle tissue of the medial gastrocnemius muscle using the EZ1 DNA Investigator Kit (Qiagen, Germany).
Intervention type	Other
Primary outcome measure	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 outcome measures	Gross motor function is assessed through collection of Gross Motor Function Classification System (GMFCS) scores at the study visit.
Overall study start date	01/12/2014
Completion date	27/04/2015

Eligibility

Participant type(s)	Mixed
Age group	Mixed
Lower age limit	18 Years
Sex	Both
Target number of participants	Alltogether 48 participants were recruited for this study
Key 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
Key exclusion criteria	Cerebral palsy (CP) group: Individuals with CP without contractures. Healthy participants: 1. Previous brain injuries 2. Skeletal muscle diseases
Date of first enrolment	01/12/2015
Date of final enrolment	27/04/2016

Locations

Countries of recruitment

Denmark

Study participating centres

University of Copenhagen

Department of Neuroscience and Pharmacology
Faculty of Health and Medical Sciences
Blegdamsvej 3.33.3
Copenhagen
2200
Denmark

Helene Elsass Center

Holmegårdsvej 28
Charlottenlund
2920
Denmark

Hvidovre Hospital

Kettegård Alle 30
Hvidovre
2650
Denmark

Sponsor information

University of Copenhagen
University/education

Blegdamsvej 3.33.3
Copenhagen N
2200
Denmark

Website	www.ku.dk
"ROR"	https://ror.org/035b05819

Funders

Funder type

Research council

Danish Research Council

No information available

The Elsass Foundation

No information available

Results and Publications

Intention to publish date	01/07/2017
Individual participant data (IPD) Intention to share	Yes
IPD sharing plan summary	Available on request
Publication and dissemination plan	Planned publication in the BMC genomics journal.
IPD sharing plan	The datasets generated during and/or analysed during the current study are/will be available upon request from Dr. Jessica Pingel (jpingel@sund.ku.dk or jessica.pingel@gmail.com)