Duchenne Muscular DystrophyNCT06579859
Development of a Registry to Assess Natural History in Duchenne Muscular Dystrophy
An observational study of Duchenne Muscular Dystrophy, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 4 sites in Italy.
Trial summary
Duchenne muscular dystrophy is a rare progressive X-linked neuromuscular disease, caused by mutation in the dystrophin gene, leading to progressive muscle degeneration, loss of specific functional milestones, severe respiratory and cardiac impairment. Read more about this study
- Who is it for?
- Any age, men only
- Conditions the study is for
- Duchenne Muscular Dystrophy
- How many people
- 200 participants
- Where
- 4 sitesItaly
- Study dates
- 1 Nov 2024to 1 Nov 2026
- 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: males affected by Duchenne Muscular Dystrophy in regular already in follow up or enrolled in one of the four involved center for neuromuscular disorders who will attend regular follow up visits as for standard of care will be enrolled in the study
Who may be able to join
- patient with genetic confirmation od Duchenne Muscular Dystrophy in follow up in one of the 4 involved centers
- signed informed consent form
Who cannot join
- patients who refuses consent
Trial locations and contacts
4 sites in 1 country.
Italy4 sites
ASL LANCIANO VASTO CHIETI, Laboratorio di Patologie Neuromuscolari del Centro di Riferimento Regionale per le Malattie Neuromuscolari
Chieti, Ch, 66100
antonio di muzio, antoniodimuzio1@gmail.com
Azienda Ospedaliera Universitaria "G. Martino"UOC di Neurologia e Malattie Neuromuscolari
Messina, 98125
sonia messina, smessina@unime.it
ASST Grande Ospedale Metropolitano Niguarda, Centro Clinico Nemo Milano
Milan, MI, 20162
valeria sansone, valeria.sansone@centrocliniconemo.it
Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC NEMO Pediatrico
Roma, 00168
Marika Pane, +0630158221, marika.pane@policlinicogemelli.it
Daniela Leone, daniela.leone@policlinicogemelli.it
About this study
Official title: PNRR-MR1-2023-12377031, Development of a Registry to Assess Natural History in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a rare progressive X-linked neuromuscular disease, caused by mutation in the dystrophin gene, leading to progressive muscle degeneration, loss of specific functional milestones, severe respiratory and cardiac impairment. Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of the disease, affecting both survival and the time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutical approaches based on mechanisms targeting specific type of mutation; therefore, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. The aim of this project is to better define the natural history of Duchenne musculare Dystrophy patients and to understand clinical and motor functional trajectories defining a more specific genotype/phenotype characterization according to the type of mutation.
Read the detailed description
Duchenne muscular Dystrophy is a progressive disorder affecting one in 3600-5000 live male births, leading to a progressive loss of specific functional milestones.
Over the past two decades, the development of new outcome measures has allowed a better definition of the natural history of the disease. Recently, there has been increasing evidence of benefit from new therapeutical approaches based on inflammatory, fibrotic and genetic mechanisms targeting specific type of mutations. The changes are better observed after the first year of treatment but as it is not possible to maintain placebo for such a long time, it has become mandatory to have natural history data for comparison. As there is increasing evidence that specific groups of mutations may have different progression of the disease, a few studies have been performed to study longitudinal functional changes in Duchenne patients with different types of mutations (deletion, duplication, small mutations) and in the subgroups eligible for skipping individual exons, focusing on those skipping 44, 45, 51 and 53 . Our groups has been involved in national and international efforts to define the trajectories of progression according to phenotypes, reporting functional changes using different measures such as the six minute walking test , North Star Ambulant Assessment in ambulant patients, and in non-ambulant patients, using the Performance of Upper limb test 2.0 and respiratory function.
The study will involve all patients with genetically confirmed Duchenne muscular Dystrophy diagnosis currently in follow up in 4 italian centers.
This research aims to provide more information about natural history in Duchenne patients, including genetic, functional motor, cardiological and respiratory data collection to define a better and complete genotype and phenotype correlation, not only in ambulant but also in not ambulant patients.
- Conditions
- Duchenne Muscular Dystrophy
- Medical subject headings
- Muscular Dystrophy, Duchenne
What is being measured
The primary outcome is the main question the study is designed to answer.
integrate existing datasets
To integrate the existing datasets including 3 year follow up data of ambulant Duchenne patients with new patients having at least 3 year follow up and with further follow up achieved after the study was completed. The dataset will also include data on non ambulant patients
Measured: 3 years
Develop structurate Case Report Form
To develop a structured electronic Case Report Form that will include all the functional data such as 6 Minute Walking Test ( no scaled) , North Star Ambulatory Assesment ( scale 0-34), timed items ( not scaled) , Performance Upper Limb (0-42) collected as part of the clinical routine and other clinical and genetic variables routinely collected and available from clinical notes.
To transfer the existing data to the newly developed Case report form
Measured: 3 years
analyse clinical data
To analyse 3 years data follow up in the original cohort and in all those who have more than 3 year follow up
In patients who lost ambulation during the study, their retrospective functional data will be analysed looking for possible prognostic indicators at one, two and three years before loss of ambulation
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Aug 2024
- Study start1 Nov 2024 (estimated)
- Primary completion1 Dec 2025 (estimated)
- Study completion1 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Duchenne Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe 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
- 200 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marika Pane, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06579859
- Sponsor's protocol ID
- 6906
- Status last verified
- Aug 2024
- First submitted
- 28 Aug 2024
- Last updated
- 30 Aug 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- PNRR-MR1-2023-12377031, Development of a Registry to Assess Natural History in Duchenne Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT06579859
- Acronym / sponsor ID
- 6906
- Conditions
- Duchenne Muscular Dystrophy
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 1 Nov 2024 (estimated)
- Primary completion
- 1 Dec 2025 (estimated)
- Study completion
- 1 Nov 2026 (estimated)
- First posted
- 30 Aug 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.
Duchenne muscular dystrophy is a rare progressive X-linked neuromuscular disease, caused by mutation in the dystrophin gene, leading to progressive muscle degeneration, loss of specific functional milestones, severe respiratory and cardiac impairment. Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of the disease, affecting both survival and the time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutical approaches based on mechanisms targeting specific type of mutation; therefore, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. The aim of this project is to better define the natural history of Duchenne musculare Dystrophy patients and to understand clinical and motor functional trajectories defining a more specific genotype/phenotype characterization according to the type of mutation.
Detailed description
Duchenne muscular Dystrophy is a progressive disorder affecting one in 3600-5000 live male births, leading to a progressive loss of specific functional milestones.
Over the past two decades, the development of new outcome measures has allowed a better definition of the natural history of the disease. Recently, there has been increasing evidence of benefit from new therapeutical approaches based on inflammatory, fibrotic and genetic mechanisms targeting specific type of mutations. The changes are better observed after the first year of treatment but as it is not possible to maintain placebo for such a long time, it has become mandatory to have natural history data for comparison. As there is increasing evidence that specific groups of mutations may have different progression of the disease, a few studies have been performed to study longitudinal functional changes in Duchenne patients with different types of mutations (deletion, duplication, small mutations) and in the subgroups eligible for skipping individual exons, focusing on those skipping 44, 45, 51 and 53 . Our groups has been involved in national and international efforts to define the trajectories of progression according to phenotypes, reporting functional changes using different measures such as the six minute walking test , North Star Ambulant Assessment in ambulant patients, and in non-ambulant patients, using the Performance of Upper limb test 2.0 and respiratory function.
The study will involve all patients with genetically confirmed Duchenne muscular Dystrophy diagnosis currently in follow up in 4 italian centers.
This research aims to provide more information about natural history in Duchenne patients, including genetic, functional motor, cardiological and respiratory data collection to define a better and complete genotype and phenotype correlation, not only in ambulant but also in not ambulant patients.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- males affected by Duchenne Muscular Dystrophy in regular already in follow up or enrolled in one of the four involved center for neuromuscular disorders who will attend regular follow up visits as for standard of care will be enrolled in the study
Key inclusion criteria (2 listed)
- patient with genetic confirmation od Duchenne Muscular Dystrophy in follow up in one of the 4 involved centers
- signed informed consent form
Key exclusion criteria (1 listed)
- patients who refuses consent
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
integrate existing datasets
Time frame: 3 years
To integrate the existing datasets including 3 year follow up data of ambulant Duchenne patients with new patients having at least 3 year follow up and with further follow up achieved after the study was completed. The dataset will also include data on non ambulant patients
Develop structurate Case Report Form
Time frame: 3 years
To develop a structured electronic Case Report Form that will include all the functional data such as 6 Minute Walking Test ( no scaled) , North Star Ambulatory Assesment ( scale 0-34), timed items ( not scaled) , Performance Upper Limb (0-42) collected as part of the clinical routine and other clinical and genetic variables routinely collected and available from clinical notes. To transfer the existing data to the newly developed Case report form
analyse clinical data
Time frame: 3 years
To analyse 3 years data follow up in the original cohort and in all those who have more than 3 year follow up In patients who lost ambulation during the study, their retrospective functional data will be analysed looking for possible prognostic indicators at one, two and three years before loss of ambulation
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Aug 2024.
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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.
Marika Pane principal investigator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Duchenne Muscular Dystrophy, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 4 sites 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 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 30 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites 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 Marika Pane (+390630158221, marika.pane@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
integrate existing datasets (time frame: 3 years). The study lists 3 primary outcomes in all. 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 30 Aug 2024.