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

NCT07745218 | Recruiting

• 1 other identifier: RF-2024-12379097
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

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)

Outcome Measures

Primary Outcomes (1)

• 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)

  36 MONTHS

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

LAMA2-RD patients (children and adults, both sexes)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• IRCCS San Raffaele: lead

Study Sites (1)

Irccs Ospedale San Raffaele

Milan, 20132, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

SERUM

MeSH Terms

Conditions

Muscular dystrophy congenital, merosin negative

Central Study Contacts

Alberto A Zambon, MD, PHD

CONTACT

+390226432751; zambon.alberto@hsr.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PhD

Study Record Dates

• First Submitted: July 30, 2026
• First Posted: August 4, 2026
• Study Start: August 1, 2026
• Primary Completion (Estimated): July 1, 2029
• Study Completion (Estimated): July 1, 2029
• Last Updated: August 4, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)