Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy

NCT07021820 | Recruiting

• 1 other identifier: 25-120-Bm
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

Twenty patients with centronuclear myopathy and twenty age- and sex-matched, muscle-healthy controls will undergo diagnostic examination. Study participants will undergo physical examination, clinical and functional testing, and multispectral optoacoustic tomography (MSOT) scanning at predefined muscle sites (paraspinal muscles, trapezius muscle, deltoid muscle, forearm flexors, quadriceps muscle, adductor muscles, ischiocrural muscles, triceps surae muscle, and tibialis anterior).

Conditions

Centronuclear Myopathy

Keywords

MSOT; centronuclear myopathy; MOSAIC

Outcome Measures

Primary Outcomes (1)

• Optoacoustic spectrum of MSOT Imaging (all in arbitrary units)

  Comparison of optoacoustic spectrum from patients with diagnosed CNM and their age- and sex matched Healthy Volunteers

  Day 1

Secondary Outcomes (19)

• Comparison of MSOT-Derived Hemoglobin and Myoglobin Signals

  Day 1

• Comparison of Oxygenated vs. Deoxygenated Hemoglobin Signal

  Day 1

• Comparison of Oxygenated Hemoglobin and Lipid Signal

  Day 1

• Comparison of deoxygenated Hemoglobin and Lipid Signal

  Day 1

• Comparison of oxygenated Hemoglobin and Collagen Signal

  Day 1

Study Arms (2)

CNM

patients with diagnosed centronuclear myopathy

Diagnostic Test: MSOT

HV

Healthy control

Diagnostic Test: MSOT

Interventions

MSOT DIAGNOSTIC_TEST

Multispectral optoacoustic tomography (MSOT) enables the detection of specific endogenous chromophores such as collagen, myoglobin or haemoglobin using a non-invasive approach comparable to conventional ultrasound. Instead of sound waves, MSOT illuminates the tissue with near-infrared light of transient energy, which is absorbed and leads to thermoelastic expansion of certain molecules. This expansion generates ultrasound waves that are detected by the same device. The multispectral illumination and unmixing then enable the precise localization and quantification of muscle-specific subcellular structures. MSOT has already shown the potential to visualize the muscle structure and clinical extent of muscle disease in patients with Duchenne muscular dystrophy, spinal muscular atrophy and the late-onset Pompe disease (LOPD) and to distinguish these patients from healthy volunteers. To date, there is no optoacoustic data on CNM.

CNM; HV

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

n= 20 CNM n = 20 HV

You may not qualify if:

• Pregnancy
• Nursing mothers
• Tattoo in the area of the examination field
• Subcutaneous fatty tissue \> 3 cm
• HV:
• any signs/history of muscle diseases
• Pregnancy
• Nursing mothers
• Tattoo in the area of the examination field
• Subcutaneous fatty tissue \> 3 cm

Sponsors & Collaborators

• University of Erlangen-Nürnberg Medical School: lead

Study Sites (1)

Uniklinikum Erlangen

Erlangen, Bavaria, 91054, Germany

RECRUITING

MeSH Terms

Conditions

Myopathies, Structural, Congenital

Condition Hierarchy (Ancestors)

Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Study Officials

• Ferdinand Knieling, PD Dr. med. habil. Dr. rer. b

  Kinder- & Jugendklinik, Erlangen

  STUDY CHAIR

Central Study Contacts

Lina Tan

CONTACT

+49 9131 85-41277; Lina.Tan@uk-erlangen.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Study Chair

Study Record Dates

• First Submitted: May 15, 2025
• First Posted: June 15, 2025
• Study Start: May 29, 2025
• Primary Completion: October 31, 2025
• Study Completion (Estimated): December 31, 2026
• Last Updated: June 15, 2025

Record last verified: 2025-06

Locations

DE (1)