Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies

IRCCS San Raffaele25 enrolled

Overview

This is a monocentric, no-profit, retrospective and prospective observational cohort study conducted at IRCCS Ospedale San Raffaele. The study does not entail any additional procedures or interventions for participants. Biological samples (including blood/serum and muscle biopsies) are obtained for a previously approved study (LAMA2\_GUP24002) and collected under the existing BancaINSpe informed consent. For the present study, analyses will be performed on biospecimens already stored or that will be stored at BancaINSpe, using portions of material already collected for the LAMA2\_GUP24002 protocol.

Study Type

OBSERVATIONAL

Enrollment

Conditions

LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: 1. Patients affected by LAMA2-related muscular dystrophy (LAMA2-RD) actively enrolled in the LAMA2\_GUP24002 study. 2. Patients who have ALREADY SIGNED the informed consent for participation in the LAMA2\_GUP24002 study, including the separate biobank-specific consent (INSPE BIOBANK CONSENT), with consent provided directly by adult patients or, in the case of minors, by their parents or legal guardians. Exclusion Criteria: An individual who meets any of the following criteria will be excluded from participation in this study: 1. Withdrawal of informed consent (to the LAMA2\_GUP24002 study or to biobanking) prior to laboratory analysis. 2. Insufficient or degraded biological material (e.g., depleted aliquots; volumes below assay requirements; biopsy not representative of LAMA2-RD muscle). 3. Re-classification of diagnosis as a non-LAMA2-RD condition after the original enrolment in the LAMA2\_GUP24002 study.

Outcomes

Primary Outcomes

HMGB1 concentration

To quantify total HMGB1 concentration in serum of patients affected by LAMA2-related muscular dystrophy (LAMA2-RD), using serum samples already collected and stored within the LAMA2\_GUP24002 study (complete LAMA2-RD and in patients with partial LAMA2-RD)

Time frame: 36 MONTHS