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

August 28, 2024 updated by: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

PNRR-MR1-2023-12377031, Development of a Registry to Assess Natural History in Duchenne Muscular Dystrophy

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.

Study Overview

Status

Not yet recruiting

Conditions

Detailed Description

Duchenne muscular Dystrophy is a progressive disorder affecting one in 3600-5000 live male births, leading to a progressive loss of specific functional milestones.

Over the past two decades, the development of new outcome measures has allowed a better definition of the natural history of the disease. Recently, there has been increasing evidence of benefit from new therapeutical approaches based on inflammatory, fibrotic and genetic mechanisms targeting specific type of mutations. The changes are better observed after the first year of treatment but as it is not possible to maintain placebo for such a long time, it has become mandatory to have natural history data for comparison. As there is increasing evidence that specific groups of mutations may have different progression of the disease, a few studies have been performed to study longitudinal functional changes in Duchenne patients with different types of mutations (deletion, duplication, small mutations) and in the subgroups eligible for skipping individual exons, focusing on those skipping 44, 45, 51 and 53 . Our groups has been involved in national and international efforts to define the trajectories of progression according to phenotypes, reporting functional changes using different measures such as the six minute walking test , North Star Ambulant Assessment in ambulant patients, and in non-ambulant patients, using the Performance of Upper limb test 2.0 and respiratory function.

The study will involve all patients with genetically confirmed Duchenne muscular Dystrophy diagnosis currently in follow up in 4 italian centers.

This research aims to provide more information about natural history in Duchenne patients, including genetic, functional motor, cardiological and respiratory data collection to define a better and complete genotype and phenotype correlation, not only in ambulant but also in not ambulant patients.

Study Type

Observational

Enrollment (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
      • Messina, Italy, 98125
        • Azienda Ospedaliera Universitaria "G. Martino"UOC di Neurologia e Malattie Neuromuscolari
        • Contact:
      • Roma, Italy, 00168
    • Ch
      • Chieti, Ch, Italy, 66100
        • ASL LANCIANO VASTO CHIETI, Laboratorio di Patologie Neuromuscolari del Centro di Riferimento Regionale per le Malattie Neuromuscolari
        • Contact:
    • MI

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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

Description

Inclusion Criteria:

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

Exclusion Criteria:

  • patients who refuses consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
integrate existing datasets
Time Frame: 3 years
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
Time Frame: 3 years

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
Time Frame: 3 years

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Investigators

  • Principal Investigator: Marika Pane, Fondazione Policlinico Universitario A. Gemelli, IRCCS

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

November 1, 2024

Primary Completion (Estimated)

December 1, 2025

Study Completion (Estimated)

November 1, 2026

Study Registration Dates

First Submitted

August 28, 2024

First Submitted That Met QC Criteria

August 28, 2024

First Posted (Actual)

August 30, 2024

Study Record Updates

Last Update Posted (Actual)

August 30, 2024

Last Update Submitted That Met QC Criteria

August 28, 2024

Last Verified

August 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 6906

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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