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NCT Number: NCT07745218

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

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.

Recruiting

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Key information

Conditions

LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A) Muscular dystrophy congenital, merosin negative

Sex eligibility

All sexes

Study type

Observational

Primary location

Irccs Ospedale San Raffaele

Milan, 20132, Italy

Location status: Recruiting

Location contact

Alberto A Zambon, MD, PHD

CONTACT

[email protected]

+39 0226432751

Alberto A Zambon, MD, PHD

PRINCIPAL_INVESTIGATOR

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. HMGB1 concentration

    Time frame: 36 MONTHS

    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)

Study contacts

Contact information is provided by the study sponsor or research team.

Alberto A Zambon, MD, PHD

CONTACT

[email protected]

+390226432751

Sponsors and collaborators

Lead sponsor

IRCCS San Raffaele

Other

Registry information

Acronym: HEAL-MD

Important dates

Study start
2026
Primary completion
2029
Study completion
2029
First posted
Aug 4, 2026
Registry last updated
Aug 4, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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