Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD)
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ClinicalTrials.gov Identifier: NCT00468832 |
Recruitment Status : Unknown
Verified April 2016 by Cooperative International Neuromuscular Research Group.
Recruitment status was: Active, not recruiting
First Posted : May 3, 2007
Last Update Posted : April 21, 2016
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Tracking Information | ||||
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First Submitted Date | May 1, 2007 | |||
First Posted Date | May 3, 2007 | |||
Last Update Posted Date | April 21, 2016 | |||
Study Start Date | December 2005 | |||
Estimated Primary Completion Date | December 2019 (Final data collection date for primary outcome measure) | |||
Current Primary Outcome Measures |
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Original Primary Outcome Measures | Not Provided | |||
Change History | ||||
Current Secondary Outcome Measures |
Biomarkers and genetic modifiers [ Time Frame: Collected either once at any visit or each visit ] Genotyping and Serum Biomarkers include blood/saliva collection for:
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Original Secondary Outcome Measures | Not Provided | |||
Current Other Pre-specified Outcome Measures | Not Provided | |||
Original Other Pre-specified Outcome Measures | Not Provided | |||
Descriptive Information | ||||
Brief Title | Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD) | |||
Official Title | Longitudinal Study of the Relationship Between Impairment, Activity Limitation, Participation and Quality of Life in Persons With Confirmed Duchenne Muscular Dystrophy (DMD) | |||
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. |
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Detailed Description | Phenotyping Study Aims Aim 1: Longitudinally assess body function and body structure (impairment) through the measurement of anthropometrics, muscle strength and pulmonary function in subjects with DMD through the multicenter CINRG network. Aim 2: Longitudinally assess activity limitations in subjects with DMD through CINRG with timed motor performance, burden of care, and functional status. Aim 3: Longitudinally assess secondary conditions in subjects with DMD, and relative risks of developing those conditions based on exposure to preventive interventions. Aim 4: Longitudinally assess participation, life satisfaction, service utilization and health-related quality of life in subjects with DMD. Aim 5: Determine appropriate outcome measurements for impairment, activities (activity limitations), participation and quality of life to determine the effect of prednisone and other therapeutic interventions on these factors. Aim 6: Using the most robust impairment, activity, participation and quality of life outcome measures, determine the sample size, power and statistical methods for the analysis of the effect size for future planned randomized-controlled rehabilitation interventions in DMD. Aim 7: Examine the associations between interventions and incidence and severity of secondary conditions, achievement of disease milestones and measures of motor function and mobility. Aim 8: To assess the validity and responsiveness of novel clinical outcome measures in DMD, including the 6-minute walk test (6MWT), the 9-hole peg test (9-HPT) Egen Klassification Scale(EK), the North Star Ambulatory Assessment (NSAA), and quantitative key and pinch grip strength testing. Aim 9: To assess the reliability, validity and responsiveness of novel patient-reported outcome(PRO) measures in DMD, including the NeuroQOL and PedsQL Neuromuscular Module. Aim 10: To assess the clinical meaningfulness of novel objective clinical outcome measures by assessing their ability to predict milestones of loss of ability to stand from supine, to stand from a seated position, to climb stairs, to ambulate independently and to raise a hand to the mouth. AIM 11: To determine the impact of development and growth on outcome measure performance,we will assess physical function on a group of healthy, typically developing male children and adults between 6 and 30 years of age for outcome measures of motor function and strength including the9-HPT, 6MWT, NSAA, timed function tests and quantitative muscle strength (QMT). Test results from this cohort will be used to develop initial percent predicted for age values for these assessments. SNP Genotyping Study Aim Our goal of the proposed study is to define polygenic modifiers of disease progression, and also response to treatment with glucocorticoids (prednisone and deflazacort). The most common type of human genetic variation is the single-nucleotide polymorphism (SNP, a base position at which two alternative bases occur at an appreciable frequency (>1%) in the population. SNPs are 90% of variation in the human genome. SNPs occur on the average of 1 per 1000 to 2000 bp throughout the 3.2 billion bp of the human genome while coding region SNPs (cSNPs) occur on the average of 1 per 346 bp. Genome-wide Association Study Aim Our goal of the proposed study is to isolate genomic DNA and find possible correlations of clinical phenotypes with gene loci associated with mild vs. severe clinical presentation, progression, or response to steroids. Serum Biomarkers Study Aim Our goal is to discover and validate sensitive and specific serum biomarkers for DMD. |
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Study Type | Observational | |||
Study Design | Observational Model: Case-Control Time Perspective: Prospective |
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Target Follow-Up Duration | Not Provided | |||
Biospecimen | Retention: Samples With DNA Description: Blood samples are being collected for single-nucleotide polymorphism, Genome-wide Association Study, and biomarker analyses.
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Sampling Method | Non-Probability Sample | |||
Study Population | The incidence of DMD is considered equal across racial and ethnic groups. At the start of the CINRG program, it was assumed by investigators that the aggregate subject populations of the participating US sites should closely mirror the racial and ethnic distribution of the US population. DMD is an X-linked recessive disease affecting only males. However, female carriers of the disease can be symptomatic due to skewed X-inactivation, a secondary genetic event. We have opted to study the most commonly affected population, males, to ensure subject homogeneity. As such, there are no outreach programs planned for women in this study. |
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Condition | Duchenne Muscular Dystrophy | |||
Intervention | Not Provided | |||
Study Groups/Cohorts |
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Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | ||||
Recruitment Status | Unknown status | |||
Actual Enrollment |
551 | |||
Original Estimated Enrollment |
395 | |||
Estimated Study Completion Date | December 2019 | |||
Estimated Primary Completion Date | December 2019 (Final data collection date for primary outcome measure) | |||
Eligibility Criteria | DMD Subject Inclusion Criteria
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
DMD Subject Exclusion Criteria For those subjects that confirm DMD diagnosis through a clinical picture consistent with DMD
Controls Subject Inclusion Criteria
Control Serum Biomarker Inclusion criteria
Control Subject Exclusion Criteria
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Sex/Gender |
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Ages | 2 Years to 30 Years (Child, Adult) | |||
Accepts Healthy Volunteers | Yes | |||
Contacts | Contact information is only displayed when the study is recruiting subjects | |||
Listed Location Countries | Argentina, Australia, Canada, India, Israel, Italy, Sweden, United States | |||
Removed Location Countries | Japan, Puerto Rico | |||
Administrative Information | ||||
NCT Number | NCT00468832 | |||
Other Study ID Numbers | UCD0305 | |||
Has Data Monitoring Committee | Yes | |||
U.S. FDA-regulated Product | Not Provided | |||
IPD Sharing Statement | Not Provided | |||
Current Responsible Party | Cooperative International Neuromuscular Research Group | |||
Original Responsible Party | Not Provided | |||
Current Study Sponsor | Cooperative International Neuromuscular Research Group | |||
Original Study Sponsor | Same as current | |||
Collaborators |
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Investigators |
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PRS Account | Cooperative International Neuromuscular Research Group | |||
Verification Date | April 2016 |