Non-invasive Imaging of Muscle Structure in Duchenne Muscular Dystrophy Using Multispectral Optoacoustic Tomography

Duchenne Muscular Dystrophy Clinical Trial

— MSOT_DMD  

Official title:

Non-invasive Imaging of Muscle Structure in Duchenne Muscular Dystrophy as Diagnostic and Progression Marker Using Multispectral Optoacoustic Tomography

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03490214
• Other study ID #: 67_18 B
• Status: Completed
• Phase: N/A
• Start date: June 1, 2018
• Est. completion date: September 1, 2018

Study information

• Verified date: December 2019
• Source: University of Erlangen-Nürnberg Medical School
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

This pilot study aims to assess subcellular muscle structure in patients with Duchenne X-linked progressive Duchenne muscular dystrophy (DMD) in comparison to healthy volunteers using multispectral optoacoustic tomography (MSOT). During MSOT, a transducer is placed on the skin similar to a conventional sonography and instead of sound, energy is supplied to the tissue by means of light flashes. This leads to a constant change of minimal expansions and contractions (thermoelastic expansion) of individual tissue constituents or molecules. The resulting sound waves can then be detected by the same examination unit.

Description:

Duchenne X-linked progressive Duchenne muscular dystrophy (DMD) is one of the most common progressive childhood muscle diseases with an incidence of 1 in 3500 male newborns and is associated primarily with decreased life expectancy. From the age of 4-5 years manifest motor problems in everyday life, typical signs of proximal muscle weakness, with lab-chemical increase of the muscle enzyme (creatinine kinase, CK). Within a few years, relevant muscle and tendon shortening leading to joint malpositions and instability, as well as scoliosis and loss of walking around the age of 10 are formed. Supportive therapies can not curatively affect complications and progression of the disease. Pathogenetically, there is a deficiency of dystrophin, a structural protein of the sarcolemma, which is caused by mutations (usually deletions) of the dystrophin gene (Xp21.3-p21.2). The result of dystrophin deficiency is a necrosis of muscle cells that are replaced by connective tissue and adipose tissue. Clinical scores (6-minute walk test, 6MWT) and MRI studies to characterize the degenerative changes of skeletal muscle in the early stages are available for the quantitative assessment of the disease progression as well as therapy effects, the significance of which is controversially discussed. However, the highly sensitive assessment of gene therapy effects (e.g., PTC 124) will become increasingly important in the future. Sensitive, non-invasive methods for the detection of early muscle degeneration and muscle function in the course are of great clinical and scientific importance. The purpose of this first pilot study is to investigate whether the differences in skeletal muscle composition of healthy volunteers and ambulatory patients with early stage DMD can be quantified and characterized using multispectral optoacoustic tomography (MSOT). This could in the future generate a completely new, non-invasive method to develop non-invasive biomarkers of disease progression or therapy response.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 20
• Est. completion date: September 1, 2018
• Est. primary completion date: August 1, 2018
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Male
• Age group: 3 Years to 10 Years

Eligibility

DMD-Patients

Inclusion Criteria:

• Histologic or genetically proven DMD

• Age 3-10 years

Exclusion Criteria:

-

Healthy controls

Inclusion Criteria:

• Male

• Age 3-10 years

Exclusion Criteria:

• Suspected muscular disease/myopathia

• missing informed consent

Related Conditions & MeSH terms

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

Intervention

Device:
• Multispectral Optoacoustic Tomography
Non-invasive transcutaneous imaging of subcellular muscle components

Locations

Country	Name	City	State
Germany	Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen	Erlangen	Bavaria

Sponsors (1)

Lead Sponsor	Collaborator
University of Erlangen-Nürnberg Medical School

Country where clinical trial is conducted

Germany, 

References & Publications (1)

Regensburger AP, Fonteyne LM, Jüngert J, Wagner AL, Gerhalter T, Nagel AM, Heiss R, Flenkenthaler F, Qurashi M, Neurath MF, Klymiuk N, Kemter E, Fröhlich T, Uder M, Woelfle J, Rascher W, Trollmann R, Wolf E, Waldner MJ, Knieling F. Detection of collagens — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Muscular lipid content	Quantitative lipid signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD compared to healthy control Units: arbitrary units (a.u.)	Single time point (1 day)
Primary	Muscular collagen content	Quantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD compared to healthy control Units: arbitrary units (a.u.)	Single time point (1 day)
Secondary	Muscular myo-/hemoglobin content	Quantitative myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD compared to healthy control Units: arbitrary units (a.u.)	Single time point (1 day)
Secondary	Correlation of lipid signal with age/disease duration	Quantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with individual disease duration/age (in month)	Single time point (1 day)
Secondary	Correlation of myo-/hemoglobin signal with age/disease duration	Quantitative moo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with individual disease duration/age (in month)	Single time point (1 day)
Secondary	Correlation of lipid signal with 6MWT	Quantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with 6-minute walk test (6MWT, distance in meters, less distance means higher disease severity)	Single time point (1 day)
Secondary	Correlation of lipid signal with MRC	Quantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with Medical Research Council (MRC, scale: 0-5, lower score means less muscular strength, measured for each individual muscles) muscle scale	Single time point (1 day)
Secondary	Correlation of collagen signal with 6MWT	Quantitative collagen signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with 6-minute walk test (6MWT, distance in meters, less distance means higher disease severity)	Single time point (1 day)
Secondary	Correlation of collagen signal with MRC	Quantitative collagen signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with Medical Research Council (MRC, scale: 0-5, lower score means less muscular strength, measured for each individual muscles) muscle scale	Single time point (1 day)
Secondary	Correlation of myo-/hemoglobin signal with 6MWT	Quantitative myo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with 6-minute walk test (6MWT, distance in meters, less distance means higher disease severity)	Single time point (1 day)
Secondary	Correlation of myo-/hemoglobin signal with MRC	Quantitative myo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with Medical Research Council (MRC, scale: 0-5, lower score means less muscular strength, measured for each individual muscles) muscle scale	Single time point (1 day)
Secondary	Signal differences left and right muscles	Comparison of quantitative signal levels (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD/healthy controls in right and left body muscular groups (upper and lower body)	Single time point (1 day)