Linking genetic changes to symptoms in Egyptian children with congenital muscle disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational project enrolls Egyptian patients under age 18 with clinical and genetic features of congenital myopathies or congenital muscular dystrophies. Participants undergo genetic testing and, when indicated, muscle biopsy to collect genetic and pathological data. Investigators will correlate clinical signs, pathology, and genetic findings to clarify genotype–phenotype relationships. The goal is to improve diagnostic precision in a population with limited existing genotype–phenotype data.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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 Criteria:

* 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

Where it's running

• Ain Shams University
  Cairo, Egypt Recruiting

Study contacts

• Study coordinator: Nouran M Sabry, MSc
• Email: nouran.abdelaziz@med.asu.edu.eg
• Phone: 00201092289982

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.