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Recruiting NCT06366815

phenotypeS in Non Ambulant Duchenne Muscular Dystrophy

— Observational Duchenne Muscular Dystrophy Natural History Motor Function; Retardation

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy.
Who it may be relevant to
Registry conditions: Duchenne Muscular Dystrophy, Natural History, Motor Function; Retardation. Basic parameters: 8 years — 35 years · Male.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Italy
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Characterizing Phenothypes in Non Ambulant Duchenne Muscular Dystrophy

Overview

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.

Interventions

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

Primary outcome measures

  • motor function [Time frame: 24 months]
  • respiratory function [Time frame: 24 months]
  • cardiac function [Time frame: 24 months]
Secondary outcome measures (1)
  • identify patterns of severity and of progression related to differnt genotypes [Time frame: 24 months]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

Italy · 2 centers
  • IRCCS Eugenio Medea - Ass. "La Nostra Famiglia" — Bosisio Parini
  • Fondazione Policlinico Universitario A. Gemelli IRCCS — Roma

Identifiers

NCT: NCT06366815 · 4619

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗