Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Genetic Testing and Muscle Biopsy.
- Who it may be relevant to
- Registry conditions: Phenotype, Genotype, Correction, Sample. Basic parameters: 1 year — 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Egypt
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- 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.
Primary outcome measures
- Phenotype and genotype of congenital myopathies (CM) and congenital muscular dystrophies (CMD) patients [Time frame: Two years]
Secondary outcome measures (3)
- Common facial features [Time frame: Two years]
- Response to physiotherapy [Time frame: Two years]
- Prognosis of same genotype across different age groups [Time frame: Two years]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Egypt · 1 center
- Ain Shams University — Cairo
Identifiers
NCT: NCT07138963 · FMASU MD103/2024