Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

Overview

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.

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: Randomized
    • Intervention Model: Parallel Assignment
    • Primary Purpose: Screening
    • Masking: None (Open Label)
  • Study Primary Completion Date: February 1, 2022

Interventions

  • Diagnostic Test: MLPA for duchenne
    • MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up

Arms, Groups and Cohorts

  • Active Comparator: ambulant patient with DMD
    • patient that walk alone or with minor assist
  • Active Comparator: non ambulant patient with DMD
    • patient need wheel chair

Clinical Trial Outcome Measures

Primary Measures

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

Participating in This Clinical Trial

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

Gender Eligibility: Male

Minimum Age: 3 Years

Maximum Age: 18 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Sohag University
  • Provider of Information About this Clinical Study
    • Principal Investigator: Nehal Samy Abdo, Assistant lecturer of pediatric. sohag university hospitals – Sohag University
  • Overall Contact(s)
    • nehal s abdel magoud, assistant lecturer, 01091666230, nehal.abdelmawgoud@med.sohag.edu.eg

References

Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-267. doi: 10.1016/S1474-4422(18)30024-3. Epub 2018 Feb 3. Erratum In: Lancet Neurol. 2018 Apr 4;:

Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-361. doi: 10.1016/S1474-4422(18)30025-5. Epub 2018 Feb 3.

Giliberto F, Radic CP, Luce L, Ferreiro V, de Brasi C, Szijan I. Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization. J Neurol Sci. 2014 Jan 15;336(1-2):36-41. doi: 10.1016/j.jns.2013.09.036. Epub 2013 Oct 5.

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