Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies | NCT07745218

NCT07745218

Overview

NCT ID: NCT07745218
Lead Sponsor: IRCCS San RaffaeleOTHER
Official Title: Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies
Brief Summary: 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.
Conditions: LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)

Ages Eligible for Study: Child (0-17)Adult (18-64)Older Adult (65+)
Sexes Eligible for Study: All
Accepts Healthy Volunteers?: No
Eligibility Criteria: Inclusion Criteria:

Patients affected by LAMA2-related muscular dystrophy (LAMA2-RD) actively enrolled in the LAMA2_GUP24002 study.

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:

Withdrawal of informed consent (to the LAMA2_GUP24002 study or to biobanking) prior to laboratory analysis.

Insufficient or degraded biological material (e.g., depleted aliquots; volumes below assay requirements; biopsy not representative of LAMA2-RD muscle).

Re-classification of diagnosis as a non-LAMA2-RD condition after the original enrolment in the LAMA2_GUP24002 study.

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