MedTrace Logo

Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small Mutations

NCT05833633 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 25

Last updated 2023-05-15

No results posted yet for this study

Summary

Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of Duchenne muscular dystrophy (DMD), affecting both survival and time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutic approaches based on mechanisms targeting specific types of mutation, as Atarulen, authorised in the European Union as Translarna since 31 July 2014 to treat DMD boys with non sense mutations. As there is increasing evidence that specific groups of mutations may have different progression of the disease, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. Natural history of DMD boys carrying deletions has been more studied and less is known about boys carrying small mutations that represent 20% of DMD patients. The aim of this project is to better define the natural history of these patients and to better understand the clinical response to mutation-specific therapies aimed at restoring dystrophin protein production.

Conditions

  • Muscular Dystrophy, Duchenne

Interventions

DIAGNOSTIC_TEST

MUSCLE MAGNETIC RESONANCE IMAGING (MRI)

To assess longitudinally at baseline and 1 year later changes on muscle MRI, genetic test, functional motor and respiratory assessments in the DMD group with different type of small mutations and the DMD group with non sense mutations treated with Atarulen in order to better define natural history of these patients. .

Sponsors & Collaborators

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    lead OTHER

Principal Investigators

  • CLAUDIA BROGNA, MD, PhD · Fondazione Policlinico Gemelli., IRCCS, Rome, Italy

Eligibility

Min Age
4 Years
Max Age
30 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-03-18
Primary Completion
2023-04-17
Completion
2024-06-30

Countries

  • Italy

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05833633 on ClinicalTrials.gov