Ignite Creation Date:
2024-05-05 @ 5:28 PM
Last Modification Date:
2024-10-26 @ 9:32 AM
Study NCT ID:
NCT00468832
Status:
UNKNOWN
Last Update Posted:
2016-04-21
First Post:
2007-05-01
Brief Title:
Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy DMD
Sponsor:
Cooperative International Neuromuscular Research Group
Organization:
Cooperative International Neuromuscular Research Group
Study Overview
Official Title:
Longitudinal Study of the Relationship Between Impairment Activity Limitation Participation and Quality of Life in Persons With Confirmed Duchenne Muscular Dystrophy DMD
Status:
UNKNOWN
Status Verified Date:
2016-04
Last Known Status:
ACTIVE_NOT_RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 participants 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 strengthsize 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
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 strengthsize 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
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 ScaleEK 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 outcomePRO 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 performancewe 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 32 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
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 ScaleEK 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 outcomePRO 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 performancewe 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 32 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None