Muscular Dystrophy, DuchenneDMDDup2NCT06337669
Characterization of DupEx2 Duchenne Muscular Dystrophy
An observational study of Muscular Dystrophy, Duchenne, run by IRCCS San Raffaele at 1 site in Italy.
Trial summary
To characterize the clinical phenotype and possible predictive/prognostic factors of patients with Duchenne muscular dystrophy (DMD) due to duplication of exon 2 (Dup2). Specifically, we aim 1) to describe the progression of motor, respiratory and cardiac function; 2) to enquire if the phenotypic spectrum of Dup2 is… Read more about this study
- Who is it for?
- Any age, men only
- Conditions the study is for
- Muscular Dystrophy, Duchenne
- How many people
- 26 participants
- Where
- 1 siteItaly
- Study dates
- 31 Jan 2022to 31 Jan 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
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
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Italian DMD patients with Dup2 mutation
Who may be able to join
- pediatric and adult DMD patients harboring a genetically confirmed duplication of the exon 2 in the dystrophin gene
Who cannot join
- patients lacking genetic confirmation of Dup2 mutation
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Dept. of Neurology, IRCCS Ospedale San Raffaele
Milan, 20132
Stefano C Previtali, MD, 00390226433036, neuromuscolare@hsr.it
About this study
Official title: Characterization of the Phenotypic Diversity in DupEx2 Duchenne Muscular Dystrophy and Identification of Predictive/Prognostic Markers
To characterize the clinical phenotype and possible predictive/prognostic factors of patients with Duchenne muscular dystrophy (DMD) due to duplication of exon 2 (Dup2). Specifically, we aim 1) to describe the progression of motor, respiratory and cardiac function; 2) to enquire if the phenotypic spectrum of Dup2 is milder than classic DMD, 3) to perform whole genome sequencing (WGS) to characterize DNA breakpoints to correlate with the phenotype; 4) to collect material for future proteomic/transcriptomic studies.
Background/Rationale DMD is caused by mutations in the DMD gene and in 11% of cases is due to duplications. The most promising therapeutic approaches include mutation-specific therapies. Notably, there is increasing evidence that specific groups of mutations may underlie different disease trajectories compared to the "average" DMD population. It is thus mandatory to have more information on genotype-phenotype correlations and patterns of progression related to different genotypes.
Read more
Dup2 is the most common DMD duplication and the only one for which a AAV-mediated exon skipping study is ongoing. Despite most case series and databases ascribe Dup2 to severe phenotype, our preliminary findings sustain that these patients have collectively a milder progression of the disease and in 1/3 of cases a significantly milder phenotype. Moreover, our attempts to reveal mechanism involved in attenuating the phenotype would confute the hypothesis of alternative spicing transcripts as previously described for DMD with deletion of exon 2.
Research design and methods Clinical information regarding a cohort of 26 Italian Dup2 patients will be collected. Differences in time to loss of ambulation compared to a DMD control group will be achieved. Finally, we will retrieve DNA for correlative WGS studies.
Anticipated output We expect that Dup2 patients present a milder DMD phenotype , which might be predicted by genomic studies.
Read the detailed description
The primary clinical endpoint is time to loss of ambulation (LOA).
Secondary endpoints include:
- The change over time of the following functional measurements: 1.1 Motor function: The 6 Minute Walk test (6MWT) and North Star Ambulatory Assessment (NSAA) including sub-items such as Time to Rise from the floor. 1.2 Respiratory function: Forced Vital Capacity (FVC) Liters (L) and % of predicted; time to FVC% < 50%. Time to Nocturnal Ventilation initiation. 1,3 Cardiac function: Left ventricular ejection fraction (EF) as measured by echocardiogram.
- To characterize DNA breakpoints in mild vs severe phenotypes
- Conditions
- Muscular Dystrophy, Duchenne
- Medical subject headings
- Muscular Dystrophy, Duchenne
What is being measured
The primary outcome is the main question the study is designed to answer.
Age at loss of ambulation
Age at loss of ambulation
Measured: 12 months
Secondary outcomes (2)
Time test for motor function
The 6 Minute Walk test (6MWT) and North Star Ambulatory Assessment (NSAA) including sub-items such as Time to Rise from the floor.
Measured: 12 months
Respiratory function
Forced Vital Capacity (FVC) Liters (L) and % of predicted; time to FVC% < 50%. Time to Nocturnal Ventilation initiation
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Mar 2024
- Study start31 Jan 2022
- Primary completion31 Jan 2025 (estimated)
- Study completion31 Jan 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Muscular Dystrophy, DuchenneStudies 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
- Prospective
- Enrolment
- 26 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS San Raffaele
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Stefano Previtali, IRCCS San Raffaele
- Investigators
- Stefano C Previtali, MD, Principal investigator, IRCCS Ospedale San Raffaele
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06337669
- Sponsor's protocol ID
- OSRSCP-GUP21006
- Acronym
- DMDDup2
- Status last verified
- Mar 2024
- First submitted
- 18 Mar 2024
- Last updated
- 29 Mar 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 29 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of the Phenotypic Diversity in DupEx2 Duchenne Muscular Dystrophy and Identification of Predictive/Prognostic Markers
- ClinicalTrials.gov ID
- NCT06337669
- Acronym / sponsor ID
- DMDDup2 / OSRSCP-GUP21006
- Conditions
- Muscular Dystrophy, Duchenne
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 26 participants (estimated)
- Lead sponsor
- IRCCS San RaffaeleUniversity, hospital or other
- Study start
- 31 Jan 2022 (actual)
- Primary completion
- 31 Jan 2025 (estimated)
- Study completion
- 31 Jan 2025 (estimated)
- First posted
- 29 Mar 2024 (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.
To characterize the clinical phenotype and possible predictive/prognostic factors of patients with Duchenne muscular dystrophy (DMD) due to duplication of exon 2 (Dup2). Specifically, we aim 1) to describe the progression of motor, respiratory and cardiac function; 2) to enquire if the phenotypic spectrum of Dup2 is milder than classic DMD, 3) to perform whole genome sequencing (WGS) to characterize DNA breakpoints to correlate with the phenotype; 4) to collect material for future proteomic/transcriptomic studies.
Background/Rationale DMD is caused by mutations in the DMD gene and in 11% of cases is due to duplications. The most promising therapeutic approaches include mutation-specific therapies. Notably, there is increasing evidence that specific groups of mutations may underlie different disease trajectories compared to the "average" DMD population. It is thus mandatory to have more information on genotype-phenotype correlations and patterns of progression related to different genotypes.
Dup2 is the most common DMD duplication and the only one for which a AAV-mediated exon skipping study is ongoing. Despite most case series and databases ascribe Dup2 to severe phenotype, our preliminary findings sustain that these patients have collectively a milder progression of the disease and in 1/3 of cases a significantly milder phenotype. Moreover, our attempts to reveal mechanism involved in attenuating the phenotype would confute the hypothesis of alternative spicing transcripts as previously described for DMD with deletion of exon 2.
Research design and methods Clinical information regarding a cohort of 26 Italian Dup2 patients will be collected. Differences in time to loss of ambulation compared to a DMD control group will be achieved. Finally, we will retrieve DNA for correlative WGS studies.
Anticipated output We expect that Dup2 patients present a milder DMD phenotype , which might be predicted by genomic studies.
Detailed description
The primary clinical endpoint is time to loss of ambulation (LOA).
Secondary endpoints include:
- The change over time of the following functional measurements: 1.1 Motor function: The 6 Minute Walk test (6MWT) and North Star Ambulatory Assessment (NSAA) including sub-items such as Time to Rise from the floor. 1.2 Respiratory function: Forced Vital Capacity (FVC) Liters (L) and % of predicted; time to FVC% < 50%. Time to Nocturnal Ventilation initiation. 1,3 Cardiac function: Left ventricular ejection fraction (EF) as measured by echocardiogram.
- To characterize DNA breakpoints in mild vs severe phenotypes
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Italian DMD patients with Dup2 mutation
Key inclusion criteria (1 listed)
- pediatric and adult DMD patients harboring a genetically confirmed duplication of the exon 2 in the dystrophin gene
Key exclusion criteria (1 listed)
- patients lacking genetic confirmation of Dup2 mutation
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
Age at loss of ambulation
Time frame: 12 months
Age at loss of ambulation
2 secondary outcomes
Time test for motor function
Time frame: 12 months
Respiratory function
Time frame: 12 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Mar 2024.
- Individual participant dataSharing planned: Undecided
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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. This study is not recruiting at the moment.
Stefano C Previtali, MD principal investigator
IRCCS Ospedale San Raffaele
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 Muscular Dystrophy, Duchenne, 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 1 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 29 Mar 2024. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Stefano C Previtali, MD (00390226433036, neuromuscolare@hsr.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Age at loss of ambulation (time frame: 12 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 29 Mar 2024.