Pan African Clinical Trials Registry
South African Medical Research Council, South African Cochrane Centre
PO Box 19070, Tygerberg, 7505, South Africa
Telephone: +27 21 938 0506 / +27 21 938 0834 Fax: +27 21 938 0836
Email: pactradmin@mrc.ac.za Website: pactr.samrc.ac.za
Trial no.: PACTR202103700536808 Date of Registration: 29/03/2021
Trial Status: Registered in accordance with WHO and ICMJE standards
TRIAL DESCRIPTION
Public title Congenital myopathy in Southern Africa
Official scientific title Centronuclear myopathy in Southern Africa
Brief summary describing the background and objectives of the trial Congenital myopathies are a group of genetically inherited muscle disorders clinically characterized by hypotonia and weakness. Major groups of congenital myopathies include centronuclear myopathy, central core myopathy, nemaline myopathy, congenital fibre-type disproportion and myosin storage myopathy, with various subtypes found within the centronuclear myopathy group. Congenital myopathies were traditionally classified based on morphological features on muscle biopsy, however, this has evolved to a genetic classification based on the mutation(s) present in addition to the clinical phenotype and histological profile. As common genetic variants within a particular population are discovered, capacity for local genetic testing can be built, leading to the possibility of the consideration of therapeutic options in the future. Objectives of the trial include exploring a cohort of patients with centronuclear myopathy in Southern Africa, the natural history of disease in this group, their unique attributes, common genetic mutations, imaging findings and viability and impact of therapeutic trial/s of medication. This trial is within the context of a PhD project that is a substudy of the International Centre of Genomic Medicine in Neuromuscular Diseases Study.
Type of trial CCT
Acronym (If the trial has an acronym then please provide)
Disease(s) or condition(s) being studied Musculoskeletal Diseases
Sub-Disease(s) or condition(s) being studied
Purpose of the trial Treatment: Drugs
Anticipated trial start date 01/03/2021
Actual trial start date
Anticipated date of last follow up 28/02/2023
Actual Last follow-up date
Anticipated target sample size (number of participants) 12
Actual target sample size (number of participants)
Recruitment status Recruiting
Publication URL
Secondary Ids Issuing authority/Trial register
STUDY DESIGN
Intervention assignment Allocation to intervention If randomised, describe how the allocation sequence was generated Describe how the allocation sequence/code was concealed from the person allocating the participants to the intervention arms Masking If masking / blinding was used
Crossover: all participants receive all interventions in different sequence during study Non-randomised Open-label(Masking Not Used)
INTERVENTIONS
Intervention type Intervention name Dose Duration Intervention description Group size Nature of control
Experimental Group Pyridostigmine Pyridostigmine will be started at a dose of 0.25mg/kg 6 hourly, increased incrementally by 0.25mg/kg weekly, as tolerated, until a maximum dose of 1mg/kg 6 hourly. 1 year Participants with centronuclear myopathy who demonstrate decremental activity on repetitive nerve stimulation test will be eligible to receive a trial of Pyridostigmine. 12
Control Group No pyridostigmine N/A 1 year Outcome variables described will be compared with the same participants who receive Pyridostigmine for a duration of 1 year prior to the commencement of medication. 12 Historical
ELIGIBILITY CRITERIA
List inclusion criteria List exclusion criteria Age Category Minimum age Maximum age Gender
Children between the ages of 0-18 years Molecular diagnosis of centronuclear myopathy Evidence of decremental activity of greater than 10% on repetitive nerve stimulation testing Absence of a genetically confirmed diagnosis of centronuclear myopathy Absence of decremental activity on repetitive nerve stimulation testing Adolescent: 13 Year-18 Year,Child: 6 Year-12 Year 6 Year(s) 18 Year(s) Both
ETHICS APPROVAL
Has the study received appropriate ethics committee approval Date the study will be submitted for approval Date of approval Name of the ethics committee
Yes 28/09/2020 Faculty of Health Sciences Human Research Ethics Committee
Ethics Committee Address
Street address City Postal code Country
G50, Old Main Building, Groote Schuur Hospital, Observatory Cape Town 7925 South Africa
OUTCOMES
Type of outcome Outcome Timepoint(s) at which outcome measured
Primary Outcome Response to the medication in terms of muscle strength, as graded by Medical Research Council (MRC) scale, distance covered in the 6 minute walk test (6MWT) for ambulant patients and the impact of drug trial on activities of daily living (ADL’s). Every 3 months
Secondary Outcome The number of admissions to hospital. Every 3 months.
RECRUITMENT CENTRES
Name of recruitment centre Street address City Postal code Country
Red Cross War Memorial Childrens Hospital Klipfontein Road Cape Town 7700 South Africa
FUNDING SOURCES
Name of source Street address City Postal code Country
University College London Gower Street London WC1E6BT United Kingdom
SPONSORS
Sponsor level Name Street address City Postal code Country Nature of sponsor
Primary Sponsor University College London Gower Street London WC1E6BT United Kingdom University
COLLABORATORS
Name Street address City Postal code Country
International Centre for Genomic Medicine in Neuromuscular Diseases Queens Square London United Kingdom
CONTACT PEOPLE
Role Name Email Phone Street address
Principal Investigator Sharika Raga drsharikaraga@gmail.com +27216585434 Klipfontein Road
City Postal code Country Position/Affiliation
Cape Town 7700 South Africa PhD fellow in paediatric neuromuscular diseases
Role Name Email Phone Street address
Public Enquiries Sharika Raga drsharikaraga@gmail.com +27216585434 Klipfontein Road
City Postal code Country Position/Affiliation
Cape Town 7700 South Africa PhD fellow in paediatric neuromuscular diseases
Role Name Email Phone Street address
Scientific Enquiries Jo Wilmshurst Jo.wilmshurst@uct.ac.za +27216585434 Klipfontein Road
City Postal code Country Position/Affiliation
Cape Town 7700 South Africa Head of Paediatric Neurology
REPORTING
Share IPD Description Additional Document Types Sharing Time Frame Key Access Criteria
Yes All of the individual participant data collected during the trial, after deidentification, will be shared. Clinical Study Report,Informed Consent Form,Statistical Analysis Plan,Study Protocol Immediately after publication. No end date. Anyone who wishes to access the data.
URL Results Available Results Summary Result Posting Date First Journal Publication Date
No
Result Upload 1: Result Upload 2: Result Upload 3: Result Upload 4: Result Upload 5:
Result URL Hyperlinks Link To Protocol
Result URL Hyperlinks
Changes to trial information