LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)HEAL-MDNCT07745218
Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies
An observational study of LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), run by IRCCS San Raffaele at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
- How many people
- 25 participants
- Where
- 1 siteItaly
- Study dates
- 1 Aug 2026to Jul 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: LAMA2-RD patients (children and adults, both sexes)
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Irccs Ospedale San Raffaele
Milan, 20132
Alberto A Zambon, MD, PHD, +39 0226432751, zambon.alberto@hsr.it
Alberto A Zambon, MD, PHD
About this study
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.
- Medical subject headings
- Muscular dystrophy congenital, merosin negative
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: 36 MONTHS
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Aug 2026
- Study start1 Aug 2026
- Primary completionJul 2029 (estimated)
- Study completionJul 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)Studies of the same condition, open and under way.
- More trials run by IRCCS San RaffaeleThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS San Raffaele
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Emilie Venereau, IRCCS San Raffaele
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07745218
- Sponsor's protocol ID
- RF-2024-12379097
- Acronym
- HEAL-MD
- Status last verified
- Nov 2026
- First submitted
- 30 Jul 2026
- Last updated
- 4 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies
- ClinicalTrials.gov ID
- NCT07745218
- Acronym / sponsor ID
- HEAL-MD / RF-2024-12379097
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- IRCCS San RaffaeleUniversity, hospital or other
- Study start
- 1 Aug 2026 (actual)
- Primary completion
- Jul 2029 (estimated)
- Study completion
- Jul 2029 (estimated)
- First posted
- 4 Aug 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- LAMA2-RD patients (children and adults, both sexes)
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Nov 2026.
- Individual participant dataSharing planned: No
Related trials for LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
RecruitingObservational study
Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy
LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)
RecruitingObservational study
Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)
RecruitingObservational study
Spanish Natural History Study for LAMA2 Muscular Dystrophy
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), Merosin Deficient CMD (Full or Partial)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), run by IRCCS San Raffaele at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Alberto A Zambon, MD, PHD (+390226432751, zambon.alberto@hsr.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
HMGB1 concentration (time frame: 36 MONTHS). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Nov 2026; AzTrials last refreshed its copy on 8 Nov 2026.