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

Duchenne Muscular Dystrophy in Norway. Genotype/Phenotype in Patients Younger Than 18 Years, With a Main Focus on Growth, Puberty, Bone Health and Quality of Life.

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01963897

Enrollment

Registered

2013-10-16

Start date

2013-08-31

Completion date

2017-06-30

Last updated

2017-09-25

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Duchenne Muscular Dystrophy

Keywords

Genotype/phenotype correlations, Growth, Bone health, Puberty, Quality of life

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

MALE

Age

No minimum to 18 Years

Healthy volunteers

Inclusion criteria

* Diagnosis of Duchenne muscular dystrophy * Age under 18 years * Residing in Norway

Exclusion criteria

Design outcomes

Primary

Measure	Time frame	Description
Genotype	1 day (At first visit)	Specific description of mutation

Countries

Norway

Outcome results