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NCT Number: NCT06366815

phenotypeS in Non Ambulant Duchenne Muscular Dystrophy

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

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Key information

Conditions

Duchenne Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Motor Function; Retardation Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Musculoskeletal Diseases Natural History Nervous System Diseases Neuromuscular Diseases

Age range

8 year–35 year

Sex eligibility

Male

Study type

Observational

Primary location

IRCCS Eugenio Medea - Ass. "La Nostra Famiglia", Bosisio Parini, Lc, Italy

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About this study

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, to retrospectively review similar information on the data collected in the last decade and to establish the effect of steroids after loss of ambulation on different aspects of function.

We also aim to use this integrated approach to identify patterns of severity and progression, the most appropriate outcome measures and endpoints in each group and possible genotype/phenotype correlations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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 exclusion criteria.

Exclusion criteria

  • Patients lacking genetic confirmation of Duchenne Muscular Dystrophy
  • Patients still able to walk for more than 10 meters.

Treatment and study plan

Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy

Other

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

Primary outcomes

  1. motor function

    Time frame: 24 months

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

  2. respiratory function

    Time frame: 24 months

    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

  3. cardiac function

    Time frame: 24 months

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

Secondary outcomes

  1. identify patterns of severity and of progression related to differnt genotypes

    Time frame: 24 months

    evaluation correlation genotype/phenotype

Study contacts

Contact information is provided by the study sponsor or research team.

Daniela Leone, MD

CONTACT

[email protected]

00390630158821

Marika Pane, Prof

CONTACT

[email protected]

00390630156742

Sponsors and collaborators

Lead sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Other

Registry information

Official study title

Characterizing Phenothypes in Non Ambulant Duchenne Muscular Dystrophy

Acronym: GUP21003

Important dates

Study start
2022
Primary completion
2024
Study completion
2025
First posted
Apr 16, 2024
Registry last updated
Oct 4, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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