phenotypeS in Non Ambulant Duchenne Muscular Dystrophy (GUP21003)

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

Study Overview

• Status: Recruiting
• Conditions: Duchenne Muscular Dystrophy; Natural History; Motor Function; Retardation
• Intervention / Treatment: Other: Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy

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 Type: Observational
• Enrollment (Estimated): 250

Contacts and Locations

• Study Contact: Name: Marika Pane, Prof; Phone Number: 00390630156742; Email: marika.pane@policlinicogemelli.it
• Study Contact Backup: Name: Daniela Leone, MD; Phone Number: 00390630158821; Email: daniela.leone@policlinicogemelli.it

Study Locations

• Italy
  • Roma, Italy
    • Recruiting
    • IRCCS catholic univeristy
    • Contact: Marika Pane, prof; Phone Number: 6742 0038063015; Email: marika.pane@policlinicogemelli.it
    • Contact: Daniela Leone; Phone Number: 00390630158821; Email: daniela.leone@policlinicogemelli.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• 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.

Description

Inclusion Criteria:

• 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.

Exclusion Criteria:

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
identify patterns of severity and of progression related to differnt genotypes	evaluation correlation genotype/phenotype	24 months

Collaborators and Investigators

• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Investigators: Principal Investigator: Marika Pane, Fondazione Policlinico Universitario A. Gemelli, IRCCS

Study record dates

Study Major Dates

• Study Start (Actual): August 30, 2022
• Primary Completion (Estimated): September 30, 2024
• Study Completion (Estimated): December 30, 2025

Study Registration Dates

• First Submitted: February 8, 2023
• First Submitted That Met QC Criteria: April 10, 2024
• First Posted (Actual): April 16, 2024

Study Record Updates

• Last Update Posted (Actual): April 16, 2024
• Last Update Submitted That Met QC Criteria: April 10, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Duchenne
• Other Study ID Numbers: 4619

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No