scholarly journals Outcome measures in Duchenne muscular dystrophy: sensitivity to change, clinical meaningfulness, and implications for clinical trials

2017 ◽  
Vol 60 (2) ◽  
pp. 117-117 ◽  
Author(s):  
Joana Domingos ◽  
Francesco Muntoni
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Outcome Measures ◽  
Sensitivity To Change ◽  
Clinical Meaningfulness

P16 Towards a consensus on biochemical outcome measures for Duchenne muscular dystrophy clinical trials

2014 ◽  
Vol 24 ◽  
pp. S11
Author(s):  
S. Torelli ◽  
K. Anthony ◽  
V. Arechavala-Gomeza ◽  
L.E. Taylor ◽  
A. Vulin ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Outcome Measures

Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: implications for clinical trials

2017 ◽  
Vol 27 ◽  
pp. S12
Author(s):  
J. Domingos ◽  
M. Eagle ◽  
A. Moraux ◽  
J. Butler ◽  
V. Decostre ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Outcome Measures

Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant patients: implications for clinical trials

2017 ◽  
Vol 27 ◽  
pp. S232-S233 ◽  
Author(s):  
J. Domingos ◽  
M. Eagle ◽  
A. Moraux ◽  
J. Butler ◽  
V. Decostre ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Outcome Measures

Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials

2015 ◽  
Vol 25 ◽  
pp. S229
Author(s):  
V. Ricotti ◽  
M. Eagle ◽  
J. Butler ◽  
V. Decostre ◽  
R. Deborah ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Outcome Measures

Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials

2016 ◽  
Vol 26 ◽  
pp. S185
Author(s):  
J. Domingos ◽  
M. Eagle ◽  
A. Moraux ◽  
J. Butler ◽  
V. Decostre ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Outcome Measures

A survey of the feasibility of developing osteoporosis clinical trials in Duchenne muscular dystrophy: Survey of the opinion of young people with Duchenne muscular dystrophy, families and clinicians

2020 ◽  
pp. 174077452095839
Author(s):  
Sze Choong Wong ◽  
Shuko Joseph ◽  
Nadia Capaldi ◽  
Marina Di Marco ◽  
Jennifer Dunne ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Young People ◽  
Outcome Measures ◽  
Bone Health ◽  
Limited Evidence ◽  
Great Awareness ◽  
The Uk

Background/aims Given the extent of osteoporosis in people with Duchenne muscular dystrophy treated with glucocorticoids and the limited evidence of bone-protective therapies, clinical trials are needed. We conducted surveys to obtain the opinion of young people with Duchenne muscular dystrophy, parents/guardians and neuromuscular clinicians on the feasibility of osteoporosis clinical trials in this population. Methods Online surveys were sent to three groups: (a) people with a confirmed diagnosis of Duchenne muscular dystrophy (≥14 years), (b) parents and guardians and (c) neuromuscular clinicians in the UK NorthStar Clinical Network. Surveys (a) and (b) were distributed via the UK Duchenne muscular dystrophy Registry. Results Survey respondents included 52 people with Duchenne muscular dystrophy with a median age of 17 years (range: 14, 40) and 183 parents/guardians. Fourteen out of 23 (61%) NorthStar centres responded. Of the 52 people with Duchenne muscular dystrophy, 13 (25%) were very concerned about their bone health and 21 (40%) were slightly concerned. Of the 183 parents/guardians, 75 (41%) were very concerned about their son’s bone health and 90 (49%) were slightly concerned. Fractures and quality of life were the top two main outcome measures identified by people with Duchenne muscular dystrophy. Fractures and bone density were the top two main outcome measures identified by parents/guardians and neuromuscular clinicians. Thirty percent of people with Duchenne muscular dystrophy and 40% of parents/guardians would not take part if an osteoporosis trial involved a placebo that was administered parenterally. Only 2 of the 14 NorthStar centres (14%) would enrol people with Duchenne muscular dystrophy if a parenteral placebo was used in an osteoporosis trial in Duchenne muscular dystrophy. Conclusion There is great awareness of bone health and the need for bone-protective trials among people with Duchenne muscular dystrophy and their carers. However, a proportion of people with Duchenne muscular dystrophy and parents are reluctant to participate in a placebo-controlled osteoporosis trial that included a parenteral therapy. A larger proportion of health care experts are unwilling to enrol their patients in such a trial. Our finding is relevant for the design of bone-protective studies in Duchenne muscular dystrophy.

scholarly journals Corticosteroids in Duchenne muscular dystrophy: impact on the motor function measure sensitivity to change and implications for clinical trials

2017 ◽  
Vol 60 (2) ◽  
pp. 185-191 ◽  
Author(s):  
Audrey Schreiber ◽  
Sylvain Brochard ◽  
Pascal Rippert ◽  
Stephanie Fontaine-Carbonnel ◽  
Christine Payan ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Motor Function ◽  
Sensitivity To Change ◽  
Function Measure ◽  
Measure Sensitivity

scholarly journals Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy

2006 ◽  
Vol 35 (1) ◽  
pp. 36-42 ◽  
Author(s):  
Jill E. Mayhew ◽  
Julaine M. Florence ◽  
Thomas P. Mayhew ◽  
Erik K. Henricson ◽  
Robert T. Leshner ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Outcome Measures ◽  
Surrogate Outcome ◽  
Multicenter Clinical Trials

scholarly journals Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Shu Zhang ◽  
◽  
Dongdong Qin ◽  
Liwen Wu ◽  
Man Li ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Hazard Ratio ◽  
Large Cohort ◽  
Muscle Disease ◽  
Clinical Progression ◽  
Large Deletions ◽  
The Mean ◽  
Lower Hazard

Abstract Background Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease in human. We aimed to describe the genotype distribution in a large cohort of Chinese DMD patients and their delayed loss of ambulation by glucocorticoid (GC) treatments. This is to facilitate protocol designs and outcome measures for the emerging DMD clinical trials. Results A total of 1163 patients with DMD were recruited and genotyped. Genotype variations were categorized as large deletions, large duplications, and small mutations. Large deletions were further analyzed for those amenable to exon-skipping therapies. Participants aged 5 years or older were grouped into GC-treated and GC-naïve groups. Clinical progression among different genotypes and their responses to GC treatments were measured by age at loss of ambulation (LOA). Among the mutation genotypes, large deletions, large duplications, and small mutations accounted for 68.79%, 7.14%, and 24.07%, respectively. The mean age at diagnosis was 4.59 years; the median ages at LOA for the GC-naïve, prednisone/prednisolone-treated, and deflazacort-treated groups were 10.23, 12.02, and 13.95 years, respectively. The “deletion amenable to skipping exon 44” subgroup and the nonsense-mutation subgroup had older ages at LOA than the “other deletions” subgroup. Subgroups were further analyzed by both genotypes and GC status. All genotypes showed significant beneficial responses to GC treatment. Deletions amenable to skipping exon 44 showed a lower hazard ratio (0.155). The mean age at death was 18.57 years in this DMD group. Conclusion Genotype variation influences clinical progression in certain DMD groups. Beneficial responses to GC treatment were observed among all DMD genotypes. Compared with other genotypes, deletions amenable to skipping exon 44 had a lower hazard ratio, which may indicate a stronger protective effect of GC treatments on this subgroup. These data are valuable for designing future clinical trials, as clinical outcomes may be influenced by the genotypes.

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