Plain English Summary
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
Trial website
Contact information
Type
Scientific
Primary contact
Dr Jessica Pingel
ORCID ID
http://orcid.org/0000-0002-9977-094X
Contact details
University of Copenhagen
Blegdamsvej 3.33.3.70
Copenhagen N
2200
Denmark
+45 2060 6199
jpingel@sund.ku.dk
Additional identifiers
EudraCT number
ClinicalTrials.gov number
Protocol/serial number
01
Study information
Scientific title
Sequence variants in muscle tissue related genes may determine the severity of muscle contractures in cerebral palsy
Acronym
Study hypothesis
Cerebral palsy patients show differences in genetic variants in targets that are involved in the structure and metabolism of skeletal muscle tissue.
Ethics approval
Regional Ethics Committee for Copenhagen, 30/04/2015, ref: H-4-2014-047
Study design
Observational case-control study
Primary study design
Observational
Secondary study design
Case-control study
Trial setting
Hospitals
Trial type
Other
Patient information sheet
Condition
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
Phase
Drug names
Primary outcome measures
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 trial start date
01/12/2014
Overall trial end date
27/04/2015
Reason abandoned
Eligibility
Participant 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
Participant type
Mixed
Age group
Mixed
Gender
Both
Target number of participants
Alltogether 48 participants were recruited for this study
Participant exclusion criteria
Cerebral palsy (CP) group:
Individuals with CP without contractures.
Healthy participants:
1. Previous brain injuries
2. Skeletal muscle diseases
Recruitment start date
01/12/2015
Recruitment end date
27/04/2016
Locations
Countries of recruitment
Denmark
Trial participating centre
University of Copenhagen
Department of Neuroscience and Pharmacology
Faculty of Health and Medical Sciences
Blegdamsvej 3.33.3
Copenhagen
2200
Denmark
Trial participating centre
Helene Elsass Center
Holmegårdsvej 28
Charlottenlund
2920
Denmark
Trial participating centre
Hvidovre Hospital
Kettegård Alle 30
Hvidovre
2650
Denmark
Sponsor information
Organisation
University of Copenhagen
Sponsor details
Blegdamsvej 3.33.3
Copenhagen N
2200
Denmark
Sponsor type
University/education
Website
Funders
Funder type
Research council
Funder name
Danish Research Council
Alternative name(s)
Funding Body Type
Funding Body Subtype
Location
Funder name
The Elsass Foundation
Alternative name(s)
Funding Body Type
Funding Body Subtype
Location
Results and Publications
Publication and dissemination plan
Planned publication in the BMC genomics journal.
IPD sharing statement:
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)
Intention to publish date
01/07/2017
Participant level data
Available on request
Results - basic reporting
Publication summary