Observational Study Evaluating an Engineered HMGB1 Protein as a New Therapy Approach for LAMA2-Related Muscular Dystrophy

What this Trial Is About

This research focuses on patients with LAMA2-related muscular dystrophy, also known as Merosin Deficient Congenital Muscular Dystrophy MDC1A. It is an observational study conducted at IRCCS Ospedale San Raffaele that aims to evaluate the concentration of an engineered HMGB1 protein as a novel companion therapy for this condition. The study is both retrospective and prospective, involving analysis of existing and newly collected biological specimens. The study does not involve any new procedures or treatments for participants. Instead, it uses blood, serum, and muscle biopsy samples that have already been obtained or will be collected as part of a previously approved study called LAMA2GUP24002. These samples are stored at the BancaINSpe biobank, and the current study performs analyses on these stored biospecimens. Participants continue their involvement through the use of stored biological materials without additional interventions. Researchers will measure HMGB1 protein concentration over 36 months using these samples. No extra visits or procedures are required beyond the original study consents, and participants usual care continues as normal throughout the study duration until mid-2029.

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