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Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

Primary Purpose

Duchenne Muscular Dystrophy

Status

Unknown status

Phase

Not Applicable

Locations

Egypt

Study Type

Interventional

Intervention

MLPA for duchenne

About this trial

This is an interventional screening trial for Duchenne Muscular Dystrophy

Eligibility Criteria

3 Years - 18 Years (Child, Adult)MaleDoes not accept healthy volunteers

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

Sites / Locations

Sohag University Hospital

Arms of the Study

Arm 1

Arm 2

Arm Type

Active Comparator

Arm Label

ambulant patient with DMD

non ambulant patient with DMD

Arm Description

patient that walk alone or with minor assist

patient need wheel chair

Outcomes

Primary Outcome Measures

change in dystrophine gene mutation

MLPA test

change in MRI findings in DMX patient from normal

by MRI brain

change in cardiac function in DMD patient

by Echocardiography to detect EF, FS

change in thyroid function in DMD patient

by thyroid function test

change in cognitive function in DMD patients

by Stanford IQ test

Secondary Outcome Measures

Full Information

NCT ID

NCT05029232

First Posted

July 14, 2021

Last Updated

August 29, 2021

Sponsor

Sohag University

1. Study Identification

Unique Protocol Identification Number

NCT05029232

Brief Title

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

2. Study Status

Record Verification Date

August 2021

Overall Recruitment Status

Unknown status

Study Start Date

October 1, 2021 (Anticipated)

Primary Completion Date

February 1, 2022 (Anticipated)

Study Completion Date

August 1, 2023 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Principal Investigator

Name of the Sponsor

Sohag University

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Studies a U.S. FDA-regulated Device Product

Data Monitoring Committee

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Duchenne Muscular Dystrophy

7. Study Design

Primary Purpose

Screening

Study Phase

Not Applicable

Interventional Study Model

Parallel Assignment

Masking

None (Open Label)

Allocation

Randomized

Enrollment

50 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title

ambulant patient with DMD

Arm Type

Active Comparator

Arm Description

patient that walk alone or with minor assist

Arm Title

non ambulant patient with DMD

Arm Type

Active Comparator

Arm Description

patient need wheel chair

Intervention Type

Diagnostic Test

Intervention Name(s)

MLPA for duchenne

Other Intervention Name(s)

muscle enzymes, thyroid function, EMG , nerve conduction for limbs, echocardiography , MRI brain , IQ test

Intervention Description

MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up

Primary Outcome Measure Information:

Title

change in dystrophine gene mutation

Description

MLPA test

Time Frame

within six months

Title

change in MRI findings in DMX patient from normal

Description

by MRI brain

Time Frame

within six months

Title

change in cardiac function in DMD patient

Description

by Echocardiography to detect EF, FS

Time Frame

within six months

Title

change in thyroid function in DMD patient

Description

by thyroid function test

Time Frame

within six months

Title

change in cognitive function in DMD patients

Description

by Stanford IQ test

Time Frame

within six months

10. Eligibility

Sex

Male

Gender Based

Yes

Minimum Age & Unit of Time

3 Years

Maximum Age & Unit of Time

18 Years

Accepts Healthy Volunteers

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

Central Contact Person:

First Name & Middle Initial & Last Name or Official Title & Degree

nehal s abdel magoud, assistant lecturer

Phone

01091666230

nehal.abdelmawgoud@med.sohag.edu.eg

First Name & Middle Initial & Last Name or Official Title & Degree

abdel rahim A sadek, professor

Phone

01065067057

abdelreheam_sadek@med.sohag.edu.eg

Facility Information:

Facility Name

Sohag University Hospital

City

Sohag

Country

Egypt

Facility Contact:

First Name & Middle Initial & Last Name & Degree

Osama R ElSherif, professor

12. IPD Sharing Statement

Plan to Share IPD

Yes

Citations:

PubMed Identifier

29395989

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. Erratum In: Lancet Neurol. 2018 Apr 4;:

Results Reference

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PubMed Identifier

29395990

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.

Results Reference

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PubMed Identifier

24135430

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.

Results Reference

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Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

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