Condition category
Nervous System Diseases
Date applied
06/06/2017
Date assigned
07/06/2017
Last edited
07/06/2017
Prospective/Retrospective
Retrospectively registered
Overall trial status
Completed
Recruitment status
No longer recruiting

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

www.ku.dk

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

Publication citations

Additional files

Editorial Notes