Molecular Profile of the Evolution of Inclusion Body Myositis

NCT03299335 | Completed

• 1 other identifier: 16-AOI-05
• Study Type: interventional
• Target: 4
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims at assessing the gene expression in the muscles of patients suffering from sporadic Inclusion Body Myositis (sIBM) at various stages of the disease, by comparison with muscles of control subject. The investigators use the RNA-seq technique to analyze the gene expression levels and potential alternate transcripts, including long non-coding RNAs (lncRNAs), in muscle tissue samples. The gene expression profiles will point to the genes of interest that can then become the object of future studies, in which epigenetic changes of these genes will be explored further. The value of those possible biomarkers will be assessed. The investigators will also evaluate the correlation between the gene expression profile, the degree of functional impairment, the histological picture and the presence or absence of autoantibodies.

Conditions

Inclusion Body Myositis

Outcome Measures

Primary Outcomes (1)

• sIBM gene expression profile

  The expression of different genes in muscle tissue will be evaluated by RNA-seq and will allow to establish the IBM gene expression profile

  at 12 Months

Secondary Outcomes (3)

• CPK level

  at 12 Months

• Rate of cN-1A antibodies.

  at 12 Months

• IWCI score

  at 12 Months

Study Arms (3)

Early-stage sIMB patients

OTHER

Other: Blood collection

Late-stage sIMB patients

OTHER

Other: Blood collection

Control subjects

OTHER

Other: Blood collection

Interventions

Blood collection OTHER

assay of CPK and anti-cN-1A antibodies

Control subjects; Early-stage sIMB patients; Late-stage sIMB patients

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• duration of the disease \> 12 months;
• onset of the disease \> 45 years;
• quadriceps weakness ≥ hip flexors and/or fingers flexors weakness \> shoulder abductors;
• CPK ≤ 15 x ULN.
• Patient with available biopsy showing alterations compatible with an inflammatory myopathy (endomysial inflammatory infiltrate, overexpression of HLA class I), but not specific to sIMB, in particular with no associated degenerative and/or mitochondrial pathologies (protein aggregates: amyloid, p62, SMI-31, TDP-43; 15-18nm filaments; ragged red fibers; COX negative fibers).
• Patient whose sIMB diagnosis has been histologically confirmed with a second muscle biopsy showing the typical histological hallmarks (endomysial inflammatory infiltrate, overexpression of HLA class I and an associated degenerative and/or mitochondrial pathology).
• Patient who gave his consent for the use of the biological material from the muscle biopsy at the time of the diagnosis.
• Patient affiliated to a social security regimen.
• Signed and written informed consent.

You may not qualify if:

• Patient with a known medical record that could significantly influence the results of the study: auto-immune disease with conjunctive tissue inflammation (overlap myositis, rheumatoid arthritis, lupus, vasculitis, spondylarthritis, scleroderma, psoriatic arthritis), disease causing nerve-damage (Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis), auto-immune neuropathy (chronic polyradiculoneuritis and variants (multifocal motor neuropathy with conduction blocks, anti-MAG neuropathy)).
• Presence of the following histological characteristics in the muscle biopsy pointing to degenerative and/or mitochondrial pathologies: protein aggregates (amyloid, p62, SM-31, TDP-43), 15-18nm filaments, ragged red fibers or fibers with decreased COX activity.
• Patient who received one of the following treatments, prior to the first muscle biopsy:
• anti-inflammatory drugs in the past week;
• corticotherapy in the past month;
• immunosuppressive agents in the past 3 months;
• other treatments: chloridin, amiodarone, colchicine, vincristine in the past 6 months.
• Patient under curators or guardianship.
• Pregnant woman.
• duration of the disease \> 12 months;
• onset of the disease \> 45 years;
• quadriceps weakness ≥ hip flexors and/or fingers flexors weakness \> shoulder abductors;
• CPK ≤ 15 x ULN.
• Patient whose sIMB diagnosis has been histologically confirmed with a muscle biopsy featuring the following characteristics: endomysial inflammatory infiltrate, rimmed vacuoles and protein aggregates (amyloid, p62, SM-31, TDP-43) or presence of 15-18nm filaments.
• Patient who gave his consent for the use of the biological material from the muscle biopsy at the time of the diagnosis.

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (1)

Hôpital Pasteur 2 - Service Système Nerveux Périphérique, Muscle et SLA

Nice, 06001, France

Location

MeSH Terms

Conditions

Myositis, Inclusion Body

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 20, 2017
• First Posted: October 3, 2017
• Study Start: February 1, 2018
• Primary Completion: February 7, 2019
• Study Completion: February 7, 2020
• Last Updated: March 22, 2023

Record last verified: 2023-03

Locations

FR (1)