Inclusion Body Myositis (IBM)TDP-signaturesNCT07796776
The Aim of the Study is to Characterize Patients Exhibiting Muscular Atrophy and Weakness Who Require a Muscle Biopsy for Diagnosis (IBM vs Atypical MND), Through an Innovative Technique Which Enables the Evaluation of the Neuromuscular Junction Involvement in Each Condition
An observational study of Inclusion Body Myositis (IBM) and Motor Neuron Disease, Amyotrophic Lateral Sclerosis, run by IRCCS San Raffaele at 1 site in Italy.
Trial summary
The aim of the study is to characterize 30 patients exhibiting muscular atrophy and weakness who require a muscle biopsy for diagnosis (suspected inclusion body myopathy vs atypical motor neuron disease), through an innovative technique (a muscle biopsy with Electrostimulation for Enhanced Neuromuscular Junction… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Inclusion Body Myositis (IBM), Motor Neuron Disease, Amyotrophic Lateral Sclerosis
- How many people
- 30 participants
- Where
- 1 siteItaly
- Study dates
- 1 Jul 2026to 1 Jul 2030
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Adult, Older adult
Study population: 30 adult patients with a neuromuscular disorder (suspected IBM or in differential diagnosis between IBM and MND)
Who may be able to join
- Patients exhibiting progressive muscle weakness and atrophy with a classic clinical IBM pattern or with an atypical clinical IBM pattern or with an atypical MND pattern
- Able to understand and sign the informed consent
- Treated according to standard of care clinical practice
Who cannot join
- Contraindications to needle EMG or skeletal muscle biopsy
- Psychiatric diseases that may interfere with adherence to the follow-up protocol
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Comparative Analysis of TDP-43 Pathology in Skeletal Muscle Biopsies With Electrostimulation for Enhanced Neuromuscular Junction Sampling in Patients Affected by Inclusion Body Myopathy (IBM) and Motor Neuron Disease (MND)
The aim of the study is to characterize 30 patients exhibiting muscular atrophy and weakness who require a muscle biopsy for diagnosis (suspected inclusion body myopathy vs atypical motor neuron disease), through an innovative technique (a muscle biopsy with Electrostimulation for Enhanced Neuromuscular Junction sampling), to evaluate the involvement of the neuromuscular junction in each disease and to better characterize shared and divergent patterns of TDP-43 pathology within the peripheral nervous system in both disorders.
- Keywords
- tdp-43
- Medical subject headings
- Myositis, Inclusion Body, Amyotrophic Lateral Sclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Inclusion body myopathy | Not described | |
| Motor Neuron Disease | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic sensitivity of an integrated clinical, neurophysiological, metabolic and histopathological model in the differential diagnosis between IBM and MND.
To achieve a diagnostic sensitivity of >90% for the differential diagnosis between IBM and MND integrating clinical variables (site of onset, scales reflecting disease progression rate, muscle strength), neurophysiological indices (presence and degree of active denervation signs, presence of myopathic or neurogenic motor unit potentials), histopathological parameters (myopathic or neuropathic pattern of disease) and metabolic measures (hyper- vs hypo-metabolism) into a multivariable binary logistic regression model, using the final diagnosis confirmed during longitudinal follow-up as the reference standard.
Measured: At the end of the follow-up period (24 months of follow-up)
Secondary outcomes (1)
To evaluate signs of muscle and neuromuscular junction (NMJ) involvement at neuropathological level in each disease
To investigate disease-specific histological signatures, comparing the pattern of fiber degeneration, the presence of inflammatory infiltrates, the presence of protein aggregation markers (such as pTDP-43) and their localization, the presence of mitochondrial changes (the percentage of age-exceeding number of COX-negative fibers) and the NMJ involvement by evaluating the presynaptic and postsynaptic integrity (quantified as the percentage of synaptophysin and Ach-R clustering, respectively) between IBM and MND (through Fisher's exact test or Mann-Whitney U test, as appropriate) and to evaluate the prognostic role of each histological parameter (through Kaplan-Meier followed by log-rank test and Cox proportional hazards regression).
Measured: At the end of the follow-up period (24 months of follow-up)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Sep 2026
- Study start1 Jul 2026
- Primary completion1 Jul 2028 (estimated)
- Study completion1 Jul 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inclusion Body Myositis (IBM)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS San Raffaele
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Stefano Previtali, IRCCS San Raffaele
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07796776
- Sponsor's protocol ID
- TDP-signatures
- Acronym
- TDP-signatures
- Status last verified
- Aug 2026
- First submitted
- 20 Aug 2026
- Last updated
- 1 Sep 2026
- Results posted
- No