Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

Duchenne Muscular Dystrophy Clinical Trial

Official title:

Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05029232
• Other study ID #: Soh-Med-21-07-21
• Status: Not yet recruiting
• Phase: N/A
• Start date: October 1, 2021
• Est. completion date: August 1, 2023

Study information

• Verified date: August 2021
• Source: Sohag University
• Contact: nehal s abdel magoud, assistant lecturer
• Phone: 01091666230
• Email: nehal.abdelmawgoud[@]med.sohag.edu.eg
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 50
• Est. completion date: August 1, 2023
• Est. primary completion date: February 1, 2022
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 3 Years to 18 Years

Eligibility

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

Related Conditions & MeSH terms

• Duchenne Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne

Intervention

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

Locations

Country	Name	City	State
Egypt	Sohag University Hospital	Sohag

Sponsors (1)

Lead Sponsor	Collaborator
Sohag University

Country where clinical trial is conducted

Egypt, 

References & Publications (3)

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. Review. — View 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. Review. Erratum in: Lancet Neurol. 2018 Apr 4;:. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	change in dystrophine gene mutation	MLPA test	within six months
Primary	change in MRI findings in DMX patient from normal	by MRI brain	within six months
Primary	change in cardiac function in DMD patient	by Echocardiography to detect EF, FS	within six months
Primary	change in thyroid function in DMD patient	by thyroid function test	within six months
Primary	change in cognitive function in DMD patients	by Stanford IQ test	within six months