Studying Skeletal Muscle, Heart, and Diaphragm Imaging in Boys With Duchenne Muscular Dystrophy

NCT01451281 | Completed

• 2 other identifiers: 11026111-N-0261
• Study Type: observational
• Target: 35
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- Duchenne muscular dystrophy (DMD) is a disease in which the muscles are unable to make the protein dystrophin. Without this protein, the muscles become gradually weaker. A new medicine called GSK2402968 is being tested to see if it can help prevent or slow down this loss of muscle strength. In this study, boys with DMD and healthy volunteers will have different types of imaging studies to see which ones provide the best images of the muscles. This information will help researchers use these imaging techniques to test the safety and effectiveness of GSK2402968 and other agents. Objectives: \- To test magnetic resonance imaging and ultrasound techniques that can detect changes in muscles of boys with DMD. Eligibility:

• Boys who have DMD and are in the GSK2402968 drug test study.
• Healthy boys of the same age as the above study participants. Design:
• Participants will be screened with a medical history and physical exam.
• Healthy volunteers will have one 2-hour visit with three tests. Magnetic resonance imaging (MRI) scans of the skeletal muscles and heart and diaphragm muscles will be carried out. Muscle ultrasound imaging of leg and arm muscles will also be done. Participants should not perform heavy physical activity like school sports or long walks during the week before the visit.
• Participants in the GSK2402968 study will have the same series of tests as the healthy volunteers. The tests will be given during the study screening phase. They will be repeated after 3 months and 6 months of receiving the study agent (GSK2402968 or placebo) and at 6 months after stopping the GSK study.

Conditions

Muscular Dystrophy; Muscular Disease

Keywords

Ultrasonography; Muscular Dystrophy; Neuromuscular Disease; Oligonucleotide; Magnetic Resonance Imaging (MRI); Duchenne Muscular Dystrophy; DND

Outcome Measures

Primary Outcomes (1)

• Changes in muscle fat content quantified by T1w GRE Dixon imaging method in skeletal muscles in the lower extremities at 24 weeks from baseline in the parent study in ambulatory boys with DMD receiving GSK2402968 or placebo

Secondary Outcomes (2)

• Changes in muscle edema by T2w imaging and muscle fat/water content by IDEAL-CPMG method; myocardial fat/edema and cardiac function by MRI methods in DMD boys receiving GSK2402968 or placebo as well as DMD boys at baseline versus healthy volunte...

• Changes in water diffusivity by MRI; muscle volume, fat, and fibrosis by ultrasound; and diaphragm function by dynamic breathing MRI methods in DMD boys receiving GSK2402968 or placebo as well as DMD boys at baseline versus healthy volunteers.

Eligibility Criteria

• Age: 5 Years - 17 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• DMD Subjects
• Eligible for the parent study
• Willing and able to comply with all protocol requirements and procedures, including MRI without sedation
• Able to give informed assent and parent(s)/legal guardian to give informed consent in writing signed by the subject and/or parent(s)/legal guardian
• Healthy Volunteers
• Must be unaffected by a neuromuscular condition
• Willing and able to comply with all protocol requirements and procedures, including MRI without sedation.
• Able to give informed assent and parent(s)/legal guardian to give informed consent in writing signed by the subject and/or parent(s)/legal guardian.

You may not qualify if:

• DMD Subjects and Healthy Volunteers
• Having metal objects in his body that are not MRI-safe. These include the following objects: 1) pacemakers or other implanted electrical devices; 2) brain stimulators; 3) some types of dental implants; 4) aneurysm clips (metal clips on the wall of a large artery); 5) metallic prostheses (including metal pins and rods, heart valves, and cochlear implants; 6) implanted delivery pump; 7) permanent eye liner; or 8) shrapnel fragments.
• Having a fear of closed spaces

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 2006 Aug;34(2):135-44. doi: 10.1002/mus.20586.

  PMID: 16770791 BACKGROUND

• Goemans NM, Tulinius M, van den Akker JT, Burm BE, Ekhart PF, Heuvelmans N, Holling T, Janson AA, Platenburg GJ, Sipkens JA, Sitsen JM, Aartsma-Rus A, van Ommen GJ, Buyse G, Darin N, Verschuuren JJ, Campion GV, de Kimpe SJ, van Deutekom JC. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med. 2011 Apr 21;364(16):1513-22. doi: 10.1056/NEJMoa1011367. Epub 2011 Mar 23.

  PMID: 21428760 BACKGROUND

• Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919-28. doi: 10.1016/0092-8674(87)90579-4.

  PMID: 3319190 BACKGROUND

MeSH Terms

Conditions

Muscular Dystrophies; Muscular Diseases; Neuromuscular Diseases; Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Musculoskeletal Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked

Study Officials

• Kenneth H Fischbeck, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 8, 2011
• First Posted: October 13, 2011
• Study Start: September 15, 2011
• Study Completion: May 20, 2019
• Last Updated: May 22, 2019

Record last verified: 2019-05-20

Locations

US (1)