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phenotypeS in Non Ambulant Duchenne Muscular Dystrophy

ConditionsDuchenne Muscular DystrophyNatural HistoryMotor Function; Retardation
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexMale
Age8-35
SponsorFondazione Policlinico Universitario Agostino Gemelli IRCCS

About this trial

The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Children with genetically confirmed diagnosis of Duchenne Muscular Dystrophy will be included in the study. We will include all Duchenne Muscular Dystrophy boys who have lost the ability to walk independently.

All patients in whom consent can be obtained will be enrolled with no

Disqualifiers

Patients lacking genetic confirmation of Duchenne Muscular Dystrophy

Patients still able to walk for more than 10 meters.

Trial population

Population expected to be enrolled will include almost 250 patients affected from Duchenne Muscular Dystrophy with a confirmed genetic diagnosis and that have lost the ability to walk indipendently for more than 10 meters.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy

    Other intervention

    clinical and functional data collection of non ambulant patients with Duchenne muscular dystrophy

Treatment groups

No treatment groups listed

Trial outcomes

Primary outcomes

1

motor function

assessment of Upper Limb Motor function in all the patient at baseline, 6, 12 and 24 months

Time frame
24 months
2

respiratory function

Assessment of respiratory function, in particular Forced Vital Capacity at baseline, 6, 12 and 24 months in all the patients able to perform the test. Registration of need for ventilation and hours of ventilation needed at each assessment

Time frame
24 months
3

cardiac function

Assessment of ejection fraction through cardiac ultrasound at baseline and changes at follow up assessment at 6, 12 and 24 months

Time frame
24 months

Secondary outcomes

1

identify patterns of severity and of progression related to differnt genotypes

evaluation correlation genotype/phenotype

Time frame
24 months

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Lead sponsor

Source ClinicalTrials.gov
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