Clinical trial NCT05029232: Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital
Official title: Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Duchenne Muscular Dystrophy
Lead sponsor: Sohag University
Sponsor class: OTHER
First posted: 2021-08-31
Enrollment: 50
Sex: MALE
Minimum age (years): 3
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: SCREENING

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.


Eligibility criteria: 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

Primary outcomes:
measure: change in dystrophine gene mutation
timeFrame: within six months
measure: change in MRI findings in DMX patient from normal
timeFrame: within six months
measure: change in cardiac function in DMD patient
timeFrame: within six months
measure: change in thyroid function in DMD patient
timeFrame: within six months
measure: change in cognitive function in DMD patients
timeFrame: within six months
Secondary outcomes:
Other outcomes:
Locations:
city: Sohag
country: Egypt
facility: Sohag University Hospital
Study officials:
References:
citation: 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.
citation: 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.
citation: 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.