NCT07138963

Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 25 (estimated)
• Sponsor: Ain Shams University · Academic / Other
• Sex: All
• Age: 1 Year – 18 Years
• Healthy volunteers: Accepted

Summary

The aim of this study is to correlate the phenotype and genotype among a sample of Egyptian patients with Congenital myopathies and Congenital muscular dystrophies.

Detailed description

Congenital Muscular dystrophies (CMDs) and Congenital Myopathies (CMs) constitute the two most important groups of congenital muscle diseases with early onset whether at birth or early infancy. CMDs and CMs as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the era of next generation sequencing. However, it has become clear that there is overlap between CMDs and CMs on the clinical, pathological and genetic level.

Conditions

• Phenotype
• Genotype
• Correction
• Sample
• Egyptian Patients
• Congenital Myopathies
• Congenital Muscular Dystrophies

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Genetic Testing and Muscle Biopsy	Comprehensive diagnostic assessment including clinical examination, electromyography (EMG), muscle biopsy for histopathological evaluation, and genetic testing to determine phenotype-genotype correlation in congenital myopathies and muscular dystrophies.

Timeline

• Start date: 2024-06-30
• Primary completion: 2026-06-30
• Completion: 2026-06-30
• First posted: 2025-08-24
• Last updated: 2025-08-24

Locations

1 site across 1 country: Egypt