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Duchenne Muscular Dystrophy < 18y in Norway: Genotype/Phenotype, Growth, Puberty, Bone Health and Quality of Life.

Completed
Conditions
Duchenne Muscular Dystrophy
Registration Number
NCT01963897
Lead Sponsor
Oslo University Hospital
Brief Summary

The study will give a consent based epidemiological overview of Norwegian patients with Duchenne muscular dystrophy younger than 18 years of age. Genotype of the population will be described. Longitudinal development of growth, bone health, and , when applicable, puberty over a two year period will be studied. Questionnaires regarding quality of life will also be an important part of the study.

Detailed Description

The participants who are not regularly seen at our regional hospital, are recruited via their local neuropediatrician. Patients who do not come to our region hospital will be seen at their local hospital.Each participant will be seen up to three times with one year between each visit. The visits include clinical examination, DXA scan, x-ray for bone age, and blood tests including several parameters related to bone health, growth and puberty. Standardized questionnaires regarding quality of life (patients and parents) will be used, and certain questions regarding the importance of achieving normal height and puberty will be added. Additional anamnestic data will be retrieved from the patients' medical records.

Recruitment & Eligibility

Status
COMPLETED
Sex
Male
Target Recruitment
73
Inclusion Criteria
  • Diagnosis of Duchenne muscular dystrophy
  • Age under 18 years
  • Residing in Norway
Exclusion Criteria

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Genotype1 day (At first visit)

Specific description of mutation

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

Oslo University Hospital

🇳🇴

Oslo, Norway

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