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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/show/NCT00468832




Registration number
NCT00468832
Ethics application status
Date submitted
1/05/2007
Date registered
3/05/2007
Date last updated
21/04/2016

Titles & IDs
Public title
Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD)
Scientific title
Longitudinal Study of the Relationship Between Impairment, Activity Limitation, Participation and Quality of Life in Persons With Confirmed Duchenne Muscular Dystrophy (DMD)
Secondary ID [1] 0 0
UCD0305
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Duchenne Muscular Dystrophy 0 0
Condition category
Condition code
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Neurological 0 0 0 0
Other neurological disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Ongoing Duchenne Muscular Dystrophy (DMD) Cohort - 340 patients currently enrolled participants with DMD.

New Young Duchenne Muscular Dystrophy (DMD) Cohort - Additional 100 confirmed DMD participants aged 4-7 years old to be recruited.

Typically Developing Control Cohort - Up to 370 typically developing male children and adults aged 6-30 years old to be recruited.

Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Strength and function - These assessments include:
Quantitative muscle testing
Manual muscle testing
Pulmonary function testing
Functional evaluations (nine hole peg, six minute walk, North Star ambulatory assessment, Brooke and Vignos scales, Egen Klassification (EK) scale, and range of motion).
Timepoint [1] 0 0
Collected at yearly visits
Primary outcome [2] 0 0
Quality of life - These questionnaires include:
Pediatric Quality of Life Inventory (PedsQL)
Pediatric Orthopaedic Functional Health Questionnaire of the Pediatric Orthopaedic Society of North America (POSNA)
World Health Organization Quality of Life Assessment - Brief (WHO QOL Brief)
Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)
Review of Systems
Timepoint [2] 0 0
Collected at yearly visits
Primary outcome [3] 0 0
Medical history assessment - Outcomes on ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests.
Timepoint [3] 0 0
Collected at yearly visits
Secondary outcome [1] 0 0
Biomarkers and genetic modifiers - Genotyping and Serum Biomarkers include blood/saliva collection for:
Blood collection for Genome Wide Association Study (GWAS) analysis (one time sample, any visit)
Blood or saliva collection for SNP sample (one time sample, any visit)
Blood collection for biomarker analysis (collected at each visit)
Timepoint [1] 0 0
Collected either once at any visit or each visit

Eligibility
Key inclusion criteria
DMD Subject Inclusion Criteria

- Affected subjects must be male and between the ages of 2 and 30

- Affected subjects between the ages of 2 and 4 must have a diagnosis of DMD confirmed
by at least one the following OR have an older male sibling that meet at least one of
the following criteria:

- Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin
deficiency, and clinical picture consistent with typical Duchenne dystrophy OR

- Gene deletion test positive (missing one or more exons) in the central rod domain
exons 25-60) of dystrophin, where reading frame can be predicted as
'out-of-frame',and clinical picture consistent with typical Duchenne dystrophy.

- Complete dystrophin gene sequencing showing an alteration (point mutation,
duplication, other) that is expected to preclude production of the dystrophin
protein(i.e. nonsense mutation, deletion/duplication leading to a downstream stop
codon),with a typical clinical picture of DMD.

- Affected subjects between the ages of 5 and 30 must either fulfill the above criteria
OR show evidence of a dystrophinopathy and clinical picture consistent with Duchenne
Muscular Dystrophy

- Participants who have documented clinical symptoms referable to a
dystrophinopathy and direct support of the diagnosis by either (1) a positive DNA
analysis for dystrophin mutation, (2) a muscle biopsy demonstrating abnormal
dystrophin, or (3) an elevated CK (>5X normal), and X-linked pedigree and an
affected family member who meets either criterion (1) or (2) as described above.

NOTE: Determination of the appropriate clinical symptoms consistent with DMD will generally
be the responsibility of the clinician. At a minimum this will include progressive loss of
function, with additional consideration for other clinical features such as a
characteristic gait, a positive Gower sign and calf pseudohypertrophy. When immunostaining
of muscle biopsy is used to determining case definition, the clinical reviewer (site PI)
should confirm that appropriate testing has ruled out a secondary deficiency of dystrophin.
Affected subjects that do not exhibit the above symptoms consistent with DMD should be
excluded.

o Muscle weakness prevalent by 5 years of age

- Non-affected adult subjects must be Parent(s) or legal guardian(s) of an eligible
affected subject.

DMD Serum Biomarker Inclusion Criteria

- Participants must meet eligibility criteria for the DMD phenotyping portion of this
study

- For the GC-treatment response cohort, participants must initiate GC treatment within
the first year of study participation (i.e. between their first study visit and their
one year follow-up visit)

DMD Subject
Minimum age
2 Years
Maximum age
30 Years
Gender
Males
Can healthy volunteers participate?
Yes
Key exclusion criteria
Exclusion Criteria

For those subjects that confirm DMD diagnosis through a clinical picture consistent with
DMD

- Steroid-naïve subjects ambulating past the 13th birthday

- Steroid users ambulating past the 16th birthday

- Subjects/families who are unwilling or unable to comply with the protocol study
procedures or visits

Controls Subject Inclusion Criteria

- Male sex

- Age 6-30 years

- Able to comply with functional testing instructions

Control Serum Biomarker Inclusion criteria

- Participants must be male

- Participants must be free of DMD, other neuromuscular disease, or other significant
concomitant illness

- Participant must be free of glucocorticoid therapy

Control Subject Exclusion Criteria

- Musculoskeletal disease

- Musculoskeletal injury within 6 months of enrollment

- Other concomitant illness that precludes functional testing in the judgment of the
investigator or clinical evaluator

- Completion of enrollment for age cohort

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Active, not recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW,VIC
Recruitment hospital [1] 0 0
The Children's Hospital at Westmead - Sydney
Recruitment hospital [2] 0 0
Royal Children's Hospital - Melbourne
Recruitment postcode(s) [1] 0 0
2145 - Sydney
Recruitment postcode(s) [2] 0 0
3052 - Melbourne
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
United States of America
State/province [2] 0 0
District of Columbia
Country [3] 0 0
United States of America
State/province [3] 0 0
Florida
Country [4] 0 0
United States of America
State/province [4] 0 0
Illinois
Country [5] 0 0
United States of America
State/province [5] 0 0
Minnesota
Country [6] 0 0
United States of America
State/province [6] 0 0
Missouri
Country [7] 0 0
United States of America
State/province [7] 0 0
North Carolina
Country [8] 0 0
United States of America
State/province [8] 0 0
Pennsylvania
Country [9] 0 0
United States of America
State/province [9] 0 0
Tennessee
Country [10] 0 0
United States of America
State/province [10] 0 0
Virginia
Country [11] 0 0
Argentina
State/province [11] 0 0
Buenos Aires
Country [12] 0 0
Canada
State/province [12] 0 0
Alberta
Country [13] 0 0
Canada
State/province [13] 0 0
Ontario
Country [14] 0 0
India
State/province [14] 0 0
Chennai
Country [15] 0 0
Israel
State/province [15] 0 0
Petach Tikvah
Country [16] 0 0
Italy
State/province [16] 0 0
Milan
Country [17] 0 0
Sweden
State/province [17] 0 0
Gothenburg

Funding & Sponsors
Primary sponsor type
Other
Name
Cooperative International Neuromuscular Research Group
Address
Country
Other collaborator category [1] 0 0
Government body
Name [1] 0 0
U.S. Department of Education
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Government body
Name [2] 0 0
National Institutes of Health (NIH)
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Government body
Name [3] 0 0
United States Department of Defense
Address [3] 0 0
Country [3] 0 0
Other collaborator category [4] 0 0
Other
Name [4] 0 0
Parent Project Muscular Dystrophy
Address [4] 0 0
Country [4] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
The purpose of this study is to establish the largest long-term assessment of people with
Duchenne muscular dystrophy (DMD). In this study, the investigators associated with the
Cooperative International Neuromuscular Research Group CINRG) will take a detailed look (for
a minimum of eight years) at DMD participant's physical abilities, the medical problems they
experience, and how they use health care services. Physical abilities will be compared to a
group of healthy controls.

The second purpose of this study is to find out whether small, normal differences in the
genetic makeup of people with DMD (called "single nucleotide polymorphisms" or "SNPs") affect
how their disease progresses and relates to muscle strength/size and steroid response.

The third purpose of this study is to study genetic variations associated with DMD.

The final purpose of this study is to determine whether certain biomarkers are present in
people with DMD and not in healthy controls.
Trial website
https://clinicaltrials.gov/show/NCT00468832
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Craig McDonald, MD
Address 0 0
University of California, Davis
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

Summary results
Other publications