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

This study is enrolling participants by invitation only.
The Research Council of Norway
University Hospital of North Norway
Information provided by (Responsible Party):
Magnhild Rasmussen, Oslo University Hospital Identifier:
First received: October 12, 2013
Last updated: April 4, 2017
Last verified: April 2017
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.

Duchenne Muscular Dystrophy

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 3 Years
Official Title: 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.

Resource links provided by NLM:

Further study details as provided by Magnhild Rasmussen, Oslo University Hospital:

Primary Outcome Measures:
  • Genotype [ Time Frame: 1 day (At first visit) ]
    Specific description of mutation

Biospecimen Retention:   Samples With DNA
whole blood, serum

Estimated Enrollment: 70
Study Start Date: August 2013
Estimated Study Completion Date: June 2017
Estimated Primary Completion Date: June 2017 (Final data collection date for primary outcome measure)
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.

Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
All patients with Duchenne muscular dystrophy under 18 years in Norway

Inclusion Criteria:

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

Exclusion Criteria:

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01963897

Oslo University Hospital
Oslo, Norway, 0424
Sponsors and Collaborators
Oslo University Hospital
The Research Council of Norway
University Hospital of North Norway
Principal Investigator: Magnhild Rasmussen, Oslo University Hospital
  More Information

Responsible Party: Magnhild Rasmussen,, Oslo University Hospital Identifier: NCT01963897     History of Changes
Other Study ID Numbers: 2013/513
Study First Received: October 12, 2013
Last Updated: April 4, 2017
Individual Participant Data  
Plan to Share IPD: No

Keywords provided by Magnhild Rasmussen, Oslo University Hospital:
Genotype/phenotype correlations
Bone health
Quality of life

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked processed this record on May 25, 2017