phenotypeS in Non Ambulant Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy Clinical Trial

— GUP21003  

Official title:

Characterizing Phenothypes in Non Ambulant Duchenne Muscular Dystrophy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06366815
• Other study ID #: 4619
• Status: Recruiting
• Start date: August 30, 2022
• Est. completion date: December 30, 2025

Study information

• Verified date: April 2024
• Source: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Contact: Marika Pane, Prof
• Phone: 00390630156742
• Email: marika.pane[@]policlinicogemelli.it
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 250
• Est. completion date: December 30, 2025
• Est. primary completion date: September 30, 2024
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 8 Years to 35 Years

Eligibility

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.

Related Conditions & MeSH terms

• Duchenne Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne
• Natural History

Intervention

Other:
• Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy
clinical and functional data collection of non ambulant patients with Duchenne muscular dystrophy

Locations

Country	Name	City	State
Italy	IRCCS catholic univeristy	Roma

Sponsors (1)

Lead Sponsor	Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	motor function	assessment of Upper Limb Motor function in all the patient at baseline, 6, 12 and 24 months	24 months
Primary	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
Primary	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	identify patterns of severity and of progression related to differnt genotypes	evaluation correlation genotype/phenotype	24 months