Status:

RECRUITING

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

Lead Sponsor:

Ain Shams University

Conditions:

Phenotype

Genotype

Eligibility:

All Genders

1-18 years

Brief 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 ...

Eligibility Criteria

Inclusion

  • Patients with clinical criteria of Congenital Myopathies (CMs) and Congenital Muscular dystrophies (CMDs) with different modes of inheritance.
  • Age: patients below age of 18 years.
  • Gender: Both males and females are included
  • Genetically confirmed CMs and CMDs.

Exclusion

  • Patients above 18 years.
  • Spinal muscular atrophy (SMA),and root lesions.
  • Congenital myasthenic syndromes
  • Dystrophinopathies,Duchenne Muscular Dystrophy (DMD), Limb-Girdle Muscular Dystrophy (LGMD)
  • .Metabolic myopathies
  • .Inflammatory muscle diseases

Key Trial Info

Start Date :

June 30 2024

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

June 30 2026

Estimated Enrollment :

25 Patients enrolled

Trial Details

Trial ID

NCT07138963

Start Date

June 30 2024

End Date

June 30 2026

Last Update

August 24 2025

Active Locations (1)

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1

Ain Shams University

Cairo, Egypt, 11591