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Center for Global Research Data

Prediction of disease progression in Duchenne muscular dystrophy

Lead Investigator: Pietro Spitali, Leiden University Medical Center
Title of Proposal Research: Prediction of disease progression in Duchenne muscular dystrophy
Vivli Data Request: 5944
Funding Source: None
Potential Conflicts of Interest: None

Summary of the Proposed Research:

Duchenne muscular dystrophy (DMD) is a rare genetic condition caused by mutations in a gene located on the X chromosome. This condition affects primarily males as females have 2 copies of the X chromosome and one functional copy is in most cases able to compensate for mutations present on the other X chromosome. DMD affects young boys, causing delayed motor development, wheelchair dependency (on average between 10 and 12 years of age) and death due to cardio-pulmonary complications.

There is currently no cure for the disease and multiple clinical trials failed due to reduced drug potency but also sub-optimal trial design. Indeed, proper design on interventional studies with drugs has been challenging due to inter-patients variability and the inability to anticipate clinical benefit in short period of time matching the classical duration of clinical trials.

In this project we aim to use a statistical model that we developed, to assess whether we can improve the prediction of disease milestones based on longitudinal data. The model has been used successfully in the cohort of patients followed up in our institution and access to a larger cohort would enable to provide a first layer of validation that we can anticipate disease progression and clinically relevant disease milestones in DMD patients.

Requested Studies:

A Prospective Natural History Study of Progression of Physical Impairment, Activity Limitation and Quality of Life in Duchenne Muscular Dystrophy
Sponsor: CureDuchenne
Study ID: NCT01753804
Sponsor ID: PRO-DMD-01

An Exploratory Study to Assess Two Doses of GSK2402968 in the Treatment of Ambulant Boys With Duchenne Muscular Dystrophy
Sponsor: CureDuchenne
Study ID: NCT01462292
Sponsor ID: 114876

A Phase III, Randomized, Double Blind, Placebo-controlled Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
Sponsor: CureDuchenne
Study ID: NCT01254019
Sponsor ID: 114044

A Phase II, Double Blind, Exploratory, Parallel-group, Placebocontrolled Clinical Study to Assess Two Dosing Regimens of GSK2402968 for Efficacy, Safety, Tolerability and Pharmacokinetics in Ambulant Subjects With Duchenne Muscular Dystrophy
Sponsor: CureDuchenne
Study ID: NCT01153932
Sponsor ID: 114117