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Completed

NCT Number: NCT04115475

New Imaging Biomarkers for Muscular Diseases - Multispectral Optoacoustic Imaging in Spinal Muscular Atrophy

This study aims to refine the capability of MSOT to characterise muscle tissue and to determine non-invasive, quantitative biomarkers for the disease assessment in patients with spinal muscular atrophy (SMA) using Multispectral Optoacoustic Tomography (MSOT).

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Key information

Conditions

Muscular Diseases Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Musculoskeletal Diseases Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases Spinal Muscular Atrophy

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Department of Pediatrics and Adolescent Medicine

Erlangen, Bavaria, 91054, Germany

About this study

SMA is an autosomal-recessive disorder, characterized by progressive muscle weakness and atrophy with an incidence of 1/10,000. The condition is caused by a homozygous deletion or mutation in the survival motor neuron 1 (SMN1), resulting in reduced expression of the survival motor neuron (SMN) protein. This leads to the degeneration of motor neurons in the spinal cord and brain stem. A nearby related gene, survival motor neuron 2 (SMN2), could partially compensate the loss of SMN1. Individuals with a higher copy number of SMN2 do in general have a milder phenotype. New therapeutic approaches, e.g. nusinersen (spinraza©), an antisense oligonucleotide medication that modulates pre-messenger RNA splicing of the survival motor neuron 2 (SMN2) gene, are promising to help the formerly incurable children. However, most clinical trials lack primary outcomes other than clinical testing. At the moment there are no prospective, quantitative biomarkers available to detect muscle atrophy at an early age, and to follow up disease progression. As a new imaging modality, optoacoustic imaging (OAI) combines benefits of optical (high contrast) and acoustic (high resolution) imaging. Multispectral optoacoustic tomography (MSOT) is therefore capable of visualizing the distribution of endogenous absorbers by initiating laser-induced thermoelastic expansion and detection of resulting pressure waves. This imaging technique enables the label-free detection and quantification of different endogenous chromophores, such as melanin, hemoglobin, deoxyhemoglobin and lipids. Previously, it was demonstrated that MSOT is capable to monitor disease severity in Crohn's disease by detecting different signal levels of hemoglobin as markers of intestinal inflammatory activity. In this study we want to refine the capability of MSOT to characterize muscle tissue and to determine a non-invasive, quantitative biomarker for the disease assessment in SMA patients from birth using MSOT.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • genetically proven SMA

Exclusion criteria

  • Pregnancy
  • Tattoo on skin to be examined
  • For healthy volunteers only: suspected muscular disease/myopathia

Treatment and study plan

Multispectral Optoacoustic Tomography (MSOT)

Device

Non-invasive transcutaneous imaging of subcellular muscle components

Primary outcomes

  1. Spectral profile of muscle tissue

    Time frame: Single time point (1 day)

    Spectral profile of muscle tissue determined by multispectral optoacoustic tomography (MSOT) of patients with spinal muscular atrophy compared to healthy volunteers units: arbitrary units (a.u.)

Secondary outcomes

  1. Muscular lipid content

    Time frame: Single time point (1 day)

    Quantitative lipid signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA compared to healthy control Units: arbitrary units (a.u.)

  2. Muscular collagen content

    Time frame: Single time point (1 day)

    Quantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA compared to healthy control Units: arbitrary units (a.u.)

  3. Muscular myo-/hemoglobin content

    Time frame: Single time point (1 day)

    Quantitative myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA compared to healthy control Units: arbitrary units (a.u.)

  4. Muscular de-/oxygenated myo-/hemoglobin content

    Time frame: Single time point (1 day)

    Quantitative de-/oxygenated myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA compared to healthy control Units: arbitrary units (a.u.)

  5. Correlation of lipid signal with clinical data (age/disease duration)

    Time frame: Single time point (1 day)

    Quantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA correlated with individual clinical data (disease duration/age (in month))

  6. Correlation of collagen signal with clinical data (age/disease duration)

    Time frame: Single time point (1 day)

    Quantitative collagen signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA correlated with individual clinical data (disease duration/age (in month))

  7. Correlation of myo-/hemoglobin signal with clinical data (age/disease duration)

    Time frame: Single time point (1 day)

    Quantitative myo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA correlated with individual clinical data (disease duration/age (in month))

  8. Correlation of de-/oxygenated myo-/hemoglobin signal with clinical data (age/disease duration)

    Time frame: Single time point (1 day)

    Quantitative de-/oxygenated myo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA correlated with individual clinical data (disease duration/age (in month))

  9. Correlation of lipid signal with physical assessment (HINE/HFMSE/CHOP INTEND/ULM)

    Time frame: Single time point (1 day)

    Quantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA correlated with individual physical assessment (HINE/HFMSE/CHOP INTEND/ULM)

  10. Correlation of collagen signal with physical assessment (HINE/HFMSE/CHOP INTEND/ULM)

    Time frame: Single time point (1 day)

    Quantitative collagen signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA correlated with individual physical assessment (HINE/HFMSE/CHOP INTEND/ULM)

  11. Correlation of myo-/hemoglobin signal with physical assessment (HINE/HFMSE/CHOP INTEND/ULM)

    Time frame: Single time point (1 day)

    Quantitative myo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA correlated with individual physical assessment (HINE/HFMSE/CHOP INTEND/ULM)

  12. Correlation of de-/oxygenated myo-/hemoglobin signal with physical assessment (HINE/HFMSE/CHOP INTEND/ULM)

    Time frame: Single time point (1 day)

    Quantitative de-/oxygenated myo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA correlated with individual physical assessment (HINE/HFMSE/CHOP INTEND/ULM)

  13. Side differences of MSOT signals

    Time frame: Single time point (1 day)

    Quantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with SMA compared between sides Units: arbitrary units (a.u.)

  14. Correlation of RUCT and B-Mode Ultrasound

    Time frame: Single time point (1 day)

    Quantitative grey scale signal derived by reflection mode ultrasound computed tomography (RUCT) correlated with grey scale B-Mode Ultrasound

Sponsors and collaborators

Lead sponsor

University of Erlangen-Nürnberg Medical School

Other

Registry information

Acronym: MSOT_SMA

Important dates

Study start
2019
Primary completion
2020
Study completion
2020
First posted
Oct 4, 2019
Registry last updated
Nov 18, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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