Development of a Registry to Assess Natural History in Duchenne Muscular Dystrophy

Sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study ID
NCT06579859
Status
Not Yet Recruiting

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Conditions

Eligibility Criteria

Sex
MALE
Age
N/A - N/A
Healthy Volunteers
Not accepted

Study Details

Duchenne muscular dystrophy is a rare progressive X-linked neuromuscular disease, caused by mutation in the dystrophin gene, leading to progressive muscle degeneration, loss of specific functional milestones, severe respiratory and cardiac impairment. Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of the disease, affecting both survival and the time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutical approaches based on mechanisms targeting specific type of mutation; therefore, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. The aim of this project is to better define the natural history of Duchenne musculare Dystrophy patients and to understand clinical and motor functional trajectories defining a more specific genotype/phenotype characterization according to the type of mutation.

Key Dates

Start date
Nov 1, 2024
Status verified
Aug 2024
Primary completion
Dec 1, 2025
Completion
Nov 1, 2026

Study Design

Enrollment
200 participants (estimated)

Primary Outcome Measure

integrate existing datasets [ Time Frame: 3 years ]

Central Contacts

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