phenotypeS in Non Ambulant Duchenne Muscular Dystrophy

NCT06366815 | Recruiting

• 1 other identifier: 4619
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 2

Brief 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

Conditions

Duchenne Muscular Dystrophy; Natural History; Motor Function; Retardation

Outcome Measures

Primary Outcomes (3)

• motor function

  assessment of Upper Limb Motor function in all the patient at baseline, 6, 12 and 24 months

  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

  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

  24 months

Secondary Outcomes (1)

• identify patterns of severity and of progression related to differnt genotypes

  24 months

Interventions

Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy OTHER

clinical and functional data collection of non ambulant patients with Duchenne muscular dystrophy

Eligibility Criteria

• Age: 8 Years - 35 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

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.

You may qualify if:

• 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.

You may not qualify if:

• Patients lacking genetic confirmation of Duchenne Muscular Dystrophy
• Patients still able to walk for more than 10 meters.

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (2)

IRCCS Eugenio Medea - Ass. "La Nostra Famiglia"

Bosisio Parini, Lc, 23842, Italy

RECRUITING

Fondazione Policlinico Universitario A. Gemelli IRCCS

Roma, Italy

RECRUITING

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Marika Pane

  Fondazione Policlinico Universitario A. Gemelli, IRCCS

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marika Pane, Prof

CONTACT

00390630156742; marika.pane@policlinicogemelli.it

Daniela Leone, MD

CONTACT

00390630158821; daniela.leone@policlinicogemelli.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 2 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: prof associate

Study Record Dates

• First Submitted: February 8, 2023
• First Posted: April 16, 2024
• Study Start: August 30, 2022
• Primary Completion: September 30, 2024
• Study Completion: December 30, 2025
• Last Updated: October 4, 2024

Record last verified: 2024-10

Data Sharing

• IPD Sharing: Will not share

Locations

IT (2)