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Congenital myopathy in Southern Africa

Centronuclear myopathy in Southern Africa

Status
Recruiting
Phases
Unknown
Study type
Interventional
Source
PACTR
Registry ID
PACTR202103700536808
Enrollment
12
Registered
2021-03-29
Start date
2021-03-01
Completion date
Unknown
Last updated
2026-08-03

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

Conditions

Musculoskeletal Diseases

Interventions

No pyridostigmine

Sponsors

University College London
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 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

Exclusion criteria

Exclusion criteria: Absence of a genetically confirmed diagnosis of centronuclear myopathy Absence of decremental activity on repetitive nerve stimulation testing

Design outcomes

Primary

MeasureTime frame
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).

Secondary

MeasureTime frame
The number of admissions to hospital.

Countries

South Africa

Contacts

Public ContactSharika Raga

PhD fellow in paediatric neuromuscular diseases

drsharikaraga@gmail.com+27216585434

Outcome results

None listed

Source: PACTR (via WHO ICTRP) · Data processed: Aug 9, 2026