Thymic Disease, Autoimmunity, and Neuromuscular Junction Integrity in Myasthenia Gravis

NCT07571525 · tracked via the Priya Life Science Italy tracker

Sponsor

IRCCS San Raffaele

Phase

Observational

Started

2026-09-15

Last updated

2026-05-06

Condition(s) studied

Myasthenia Gravis (MG)Myasthenia Gravis Associated With ThymomaThymoma

Study summary

The goal of this observational study is to investigate the clinical, immunological, and neuromuscular features associated with the development and progression of myasthenia gravis (MG) in adult patients with thymic abnormalities and/or MG-related antibodies, including individuals with or without clinically manifest disease.

The main questions it aims to answer are:

* Whether integrated clinical, serological, and histopathological profiles are associated with the presence of MG and can predict disease onset or progression
* Wheter systemic immune markers are associated with disease activity, progression, and neuromuscular junction alterations

Participants will:

* Undergo clinical, neurological, and neurophysiological assessments at baseline and during follow-up
* Provide blood samples for serological and immunological analyses
* Provide thymic tissue and residual intercostal muscle samples (when undergoing clinically indicated thymectomy) for research analyses
* Attend follow-up visits at 6, 12, and 18 months
* Record daily symptoms using an electronic patient-reported outcome tool (for participants with MG)

Eligibility

Sex

ALL

Min age

18 Years

Max age

—

Healthy volunteers

Inclusion Criteria: * Age ≥18 years at the time of informed consent * Ability to provide written informed consent and comply with study procedures * Availability of a serum sample for testing MG-related antibodies * Availability of chest imaging (CT and/or MRI) to classify thymic status Participants must also meet the criteria for at least one of the following study groups: Cohort 1: Thymoma with MG-related antibodies * Histologically or radiologically confirmed thymoma * Presence of at least one pathogenic MG-related antibody (AChR) * Presence or absence of clinically manifest myasthenia gravis Cohort 2: Other thymic abnormalities with MG-related antibodies * Imaging or histological evidence of non-thymomatous thymic pathology (e.g., thymic hyperplasia) * Presence of at least one pathogenic MG-related antibody (AChR) * Presence or absence of clinically manifest myasthenia gravis Cohort 3: Thymoma without MG-related antibodies * Histologically or radiologically confirmed thymoma * Negative for pathogenic MG-related antibodies (AChR) * No clinical diagnosis or symptoms suggestive of myasthenia gravis Cohort 4: Myasthenia gravis without thymic abnormalities * Established clinical diagnosis of myasthenia gravis with consistent clinical features, supported by at least one of the following: 1. Seropositivity for MG-related antibodies (AChR, MuSK, or LRP4), or 2. Abnormal neuromuscular transmission demonstrated by SFEMG or RNS, or 3. Improvement of MG signs with treatment such as oral acetylcholinesterase inhibitors, plasma exchange, IVIg, or corticosteroids * Absence of thymic abnormalities on CT or MRI Exclusion Criteria: * Inability to provide informed consent * Other neuromuscular diseases that could interfere with interpretation of clinical or neurophysiological findings * Severe uncontrolled systemic illness that, in the investigator's judgment, may limit participation or confound study outcomes * Any medical or psychiatric condition, or history of substance abuse, that may compromise adherence to study procedures * Pregnancy or breastfeeding

Primary outcome measure(s)

Qualitative assessment of neuromuscular junction structural abnormalities in intercostal muscle samples — At the time of thymectomy (baseline)
The primary outcome is the qualitative assessment of neuromuscular junction structural abnormalities in residual intercostal muscle samples collected from participants undergoing clinically indicated thymectomy. Neuromuscular junction integrity will be evaluated using histological, immunofluorescence, and ultrastructural analyses, including assessment of acetylcholine receptor clustering, IgG and complement deposition, postsynaptic fold morphology, and features of synaptic remodeling or immune-mediated injury. Structural abnormalities will be described in terms of presence or absence and, where applicable, semi-quantitative grading. Findings will be compared across participant groups according to thymic pathology, MG-related antibody status, and the presence or absence of clinically manifest myasthenia gravis.

Trial sites (1)

Facility	City	Region	Status
IRCCS Ospedale San Raffaele	Milan	Italy

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07571525 on ClinicalTrials.gov ↗ ← All trials in Italy