Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A). Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
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.
Primary outcome measures
- HMGB1 concentration [Time frame: 36 MONTHS]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 1 center
- Irccs Ospedale San Raffaele — Milan
Identifiers
NCT: NCT07745218 · RF-2024-12379097