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

NCT06579859 | Not Yet Recruiting

• 1 other identifier: 6906
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 4

Brief Summary

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.

Conditions

Duchenne Muscular Dystrophy

Outcome Measures

Primary Outcomes (3)

• integrate existing datasets

  To integrate the existing datasets including 3 year follow up data of ambulant Duchenne patients with new patients having at least 3 year follow up and with further follow up achieved after the study was completed. The dataset will also include data on non ambulant patients

  3 years

• Develop structurate Case Report Form

  To develop a structured electronic Case Report Form that will include all the functional data such as 6 Minute Walking Test ( no scaled) , North Star Ambulatory Assesment ( scale 0-34), timed items ( not scaled) , Performance Upper Limb (0-42) collected as part of the clinical routine and other clinical and genetic variables routinely collected and available from clinical notes. To transfer the existing data to the newly developed Case report form

  3 years

• analyse clinical data

  To analyse 3 years data follow up in the original cohort and in all those who have more than 3 year follow up In patients who lost ambulation during the study, their retrospective functional data will be analysed looking for possible prognostic indicators at one, two and three years before loss of ambulation

  3 years

Eligibility Criteria

• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

males affected by Duchenne Muscular Dystrophy in regular already in follow up or enrolled in one of the four involved center for neuromuscular disorders who will attend regular follow up visits as for standard of care will be enrolled in the study

You may qualify if:

• patient with genetic confirmation od Duchenne Muscular Dystrophy in follow up in one of the 4 involved centers
• signed informed consent form

You may not qualify if:

• patients who refuses consent

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (4)

ASL LANCIANO VASTO CHIETI, Laboratorio di Patologie Neuromuscolari del Centro di Riferimento Regionale per le Malattie Neuromuscolari

Chieti, Ch, 66100, Italy

Location

ASST Grande Ospedale Metropolitano Niguarda, Centro Clinico Nemo Milano

Milan, MI, 20162, Italy

Location

Azienda Ospedaliera Universitaria "G. Martino"UOC di Neurologia e Malattie Neuromuscolari

Messina, 98125, Italy

Location

Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC NEMO Pediatrico

Roma, 00168, Italy

Location

Biospecimen

Retention: NONE RETAINED

dna

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Marika Pane

  Fondazione Policlinico Universitario A. Gemelli, IRCCS

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marika Pane

CONTACT

+390630158221; marika.pane@policlinicogemelli.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 28, 2024
• First Posted: August 30, 2024
• Study Start: November 1, 2024
• Primary Completion: December 1, 2025
• Study Completion (Estimated): November 1, 2026
• Last Updated: August 30, 2024

Record last verified: 2024-08

Locations

IT (4)