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Clinical Trials/NCT05029232
NCT05029232
Unknown
Not Applicable

Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

Sohag University1 site in 1 country50 target enrollmentOctober 1, 2021

Overview

Phase
Not Applicable
Intervention
Not specified
Conditions
Duchenne Muscular Dystrophy
Sponsor
Sohag University
Enrollment
50
Locations
1
Primary Endpoint
change in dystrophine gene mutation
Last Updated
4 years ago

Overview

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.

Registry
clinicaltrials.gov
Start Date
October 1, 2021
End Date
August 1, 2023
Last Updated
4 years ago
Study Type
Interventional
Study Design
Parallel
Sex
Male

Investigators

Responsible Party
Principal Investigator
Principal Investigator

Nehal Samy Abdo

Assistant lecturer of pediatric. sohag university hospitals

Sohag University

Eligibility Criteria

Inclusion Criteria

  • age of onset between 3- and 18-year-old
  • typical clinical manifestation of Duchenne muscular dystrophy
  • 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

  • children with another congenital muscular dystrophy
  • children with other types of myopathies
  • presence of CNS disorders such as brain insult \& spinal muscular atrophy
  • female gender

Outcomes

Primary Outcomes

change in dystrophine gene mutation

Time Frame: within six months

MLPA test

change in cognitive function in DMD patients

Time Frame: within six months

by Stanford IQ test

change in MRI findings in DMX patient from normal

Time Frame: within six months

by MRI brain

change in thyroid function in DMD patient

Time Frame: within six months

by thyroid function test

change in cardiac function in DMD patient

Time Frame: within six months

by Echocardiography to detect EF, FS

Study Sites (1)

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