Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

Not Applicable

• Conditions: Duchenne Muscular Dystrophy
• Interventions: Diagnostic Test: MLPA for duchenne

• Registration Number: NCT05029232
• Lead Sponsor: Sohag University

Brief Summary

Muscular dystrophies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing .Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD characterized by a progressive degeneration of skeletal muscles, with symptoms that manifest early, at around 3 years, causing loss of ambulation within the 13 years of life, followed by cardiac complication (e.g., dilated cardiomyopathy and arrhythmia) and respiratory disorders, including chronic respiratory failure. The unique medical treatment available is steroid therapy, which appears to prolong walking capacity by at least two years. Thus, besides medical treatment, the physical therapy in multidisciplinary care is imperative for alleviating muscle atrophy, skeletal deformities, and motor function deterioration.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2021-07-14
• Status Verified: 2021-08
• Study First Submitted QC: 2021-08-29
• Last Update Submitted: 2021-08-29
• Study First Posted: 2021-08-31
• Last Update Posted: 2021-08-31
• Study Start: 2021-10-01
• Primary Completion: 2022-02-01
• Study Completion: 2023-08-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: Male
• Target Recruitment: 50

Inclusion Criteria

1. age of onset between 3- and 18-year-old
2. typical clinical manifestation of Duchenne muscular dystrophy
3. clinical manifestation confirmed by specific biochemical analysis or by genetic testing who presented to pediatric department and neurology outpatient clinic during the period of study.

Exclusion Criteria

1. children with another congenital muscular dystrophy
2. children with other types of myopathies
3. presence of CNS disorders such as brain insult & spinal muscular atrophy
4. female gender

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
ambulant patient with DMD	MLPA for duchenne	patient that walk alone or with minor assist
non ambulant patient with DMD	MLPA for duchenne	patient need wheel chair

Primary Outcome Measures

Name	Time	Method
change in dystrophine gene mutation	within six months	MLPA test
change in cognitive function in DMD patients	within six months	by Stanford IQ test
change in MRI findings in DMX patient from normal	within six months	by MRI brain
change in thyroid function in DMD patient	within six months	by thyroid function test
change in cardiac function in DMD patient	within six months	by Echocardiography to detect EF, FS

Trial Locations

Locations (1)

Sohag University Hospital; 🇪🇬 Sohag, Egypt