Duchenne Muscular DystrophyGUP21003NCT06366815
phenotypeS in Non Ambulant Duchenne Muscular Dystrophy
An observational study of Duchenne Muscular Dystrophy and Natural History, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 2 sites in Italy.
Trial summary
The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function Read more about this study
- Who is it for?
- Ages 8 to 35 years, men only
- Conditions the study is for
- Duchenne Muscular Dystrophy, Natural History, Motor Function; Retardation
- What is being tested?
- Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy
- How many people
- 250 participants
- Where
- 2 sitesItaly
- Study dates
- 30 Aug 2022to 30 Dec 2025
- How long will I take part?
- 2 Years
- 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 8 to 35 years
- Men only
- No healthy volunteers
- Child, Adult
Study population: Population expected to be enrolled will include almost 250 patients affected from Duchenne Muscular Dystrophy with a confirmed genetic diagnosis and that have lost the ability to walk indipendently for more than 10 meters.
Who may be able to join
- Children with genetically confirmed diagnosis of Duchenne Muscular Dystrophy will be included in the study. We will include all Duchenne Muscular Dystrophy boys who have lost the ability to walk independently.
- All patients in whom consent can be obtained will be enrolled with no exclusion criteria.
Who cannot join
- Patients lacking genetic confirmation of Duchenne Muscular Dystrophy
- Patients still able to walk for more than 10 meters.
Trial locations and contacts
2 sites in 1 country.
Italy2 sites, 2 recruiting
- Recruiting
IRCCS Eugenio Medea - Ass. "La Nostra Famiglia"
Bosisio Parini, Lc, 23842
Eleonora Diella, eleonora.diella@lanostrafamiglia.it
Noemi Miscioscia, noemi.miscioscia@lanostrafamiglia.it
- Recruiting
Fondazione Policlinico Universitario A. Gemelli IRCCS
Roma
Marika Pane, +390630156742, marika.pane@policlinicogemelli.it
Daniela Leone, +390630158821, daniela.leone@policlinicogemelli.it
About this study
Official title: Characterizing Phenothypes in Non Ambulant Duchenne Muscular Dystrophy
The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function
Read the detailed description
The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function, to retrospectively review similar information on the data collected in the last decade and to establish the effect of steroids after loss of ambulation on different aspects of function.
We also aim to use this integrated approach to identify patterns of severity and progression, the most appropriate outcome measures and endpoints in each group and possible genotype/phenotype correlations.
- Being tested
- Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy
- Medical subject headings
- Muscular Dystrophy, Duchenne
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Different Phenotypes of non ambulant patients with Duchenne Muscular DystrophyOther
clinical and functional data collection of non ambulant patients with Duchenne muscular dystrophy
What is being measured
The primary outcome is the main question the study is designed to answer.
motor function
assessment of Upper Limb Motor function in all the patient at baseline, 6, 12 and 24 months
Measured: 24 months
respiratory function
Assessment of respiratory function, in particular Forced Vital Capacity at baseline, 6, 12 and 24 months in all the patients able to perform the test. Registration of need for ventilation and hours of ventilation needed at each assessment
Measured: 24 months
cardiac function
Assessment of ejection fraction through cardiac ultrasound at baseline and changes at follow up assessment at 6, 12 and 24 months
Measured: 24 months
Secondary outcomes (1)
identify patterns of severity and of progression related to differnt genotypes
evaluation correlation genotype/phenotype
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Apr 2024
- Study start30 Aug 2022
- Primary completion30 Sep 2024 (estimated)
- Study completion30 Dec 2025 (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
- Prospective
- Enrolment
- 250 participants (estimated)
- Target duration
- 2 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Pane Marika, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Investigators
- Marika Pane, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06366815
- Sponsor's protocol ID
- 4619
- Acronym
- GUP21003
- Status last verified
- Oct 2024
- First submitted
- 8 Feb 2023
- Last updated
- 4 Oct 2024
- 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 Oct 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterizing Phenothypes in Non Ambulant Duchenne Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT06366815
- Acronym / sponsor ID
- GUP21003 / 4619
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 250 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 30 Aug 2022 (actual)
- Primary completion
- 30 Sep 2024 (estimated)
- Study completion
- 30 Dec 2025 (estimated)
- First posted
- 16 Apr 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.
The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function
Detailed description
The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function, to retrospectively review similar information on the data collected in the last decade and to establish the effect of steroids after loss of ambulation on different aspects of function.
We also aim to use this integrated approach to identify patterns of severity and progression, the most appropriate outcome measures and endpoints in each group and possible genotype/phenotype correlations.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 2 Years
Who may qualify
- Ages
- 8 to 35 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Population expected to be enrolled will include almost 250 patients affected from Duchenne Muscular Dystrophy with a confirmed genetic diagnosis and that have lost the ability to walk indipendently for more than 10 meters.
Key inclusion criteria (2 listed)
- Children with genetically confirmed diagnosis of Duchenne Muscular Dystrophy will be included in the study. We will include all Duchenne Muscular Dystrophy boys who have lost the ability to walk independently.
- All patients in whom consent can be obtained will be enrolled with no exclusion criteria.
Key exclusion criteria (2 listed)
- Patients lacking genetic confirmation of Duchenne Muscular Dystrophy
- Patients still able to walk for more than 10 meters.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophyclinical and functional data collection of non ambulant patients with Duchenne muscular dystrophy | Other | – |
Primary outcome
motor function
Time frame: 24 months
assessment of Upper Limb Motor function in all the patient at baseline, 6, 12 and 24 months
respiratory function
Time frame: 24 months
Assessment of respiratory function, in particular Forced Vital Capacity at baseline, 6, 12 and 24 months in all the patients able to perform the test. Registration of need for ventilation and hours of ventilation needed at each assessment
cardiac function
Time frame: 24 months
Assessment of ejection fraction through cardiac ultrasound at baseline and changes at follow up assessment at 6, 12 and 24 months
1 secondary outcome
identify patterns of severity and of progression related to differnt genotypes
Time frame: 24 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Oct 2024.
- Individual participant dataSharing planned: No
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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
2 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 and Natural History, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 2 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 2 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 4 Oct 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 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, Prof (00390630156742, marika.pane@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
motor function (time frame: 24 months). 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 4 Oct 2024.