scholarly journals Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy

2021 ◽  
Author(s):  
Patricia Hafner ◽  
Simone Schmidt ◽  
Sabine Schädelin ◽  
Pascal Rippert ◽  
Dalil Hamroun ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Motor Function ◽  
Percentile Curves ◽  
Function Loss ◽  
Function Measure

scholarly journals Tamoxifen in Duchenne muscular dystrophy (TAMDMD): study protocol for a multicenter, randomized, placebo-controlled, double-blind phase 3 trial

2019 ◽  
Author(s):  
Sara Nagy ◽  
Patricia Hafner ◽  
Simone Schmidt ◽  
Daniela Rubino-Nacht ◽  
Sabine Schädelin ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Motor Function ◽  
Open Label ◽  
Phase 3 ◽  
Double Blind ◽  
Safety And Efficacy ◽  
Open Label Extension ◽  
To Receive ◽  
Function Measure

Abstract BACKGROUND Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disorder of childhood with a devastating disease course. Several targeted gene therapies and molecular approaches have been or are currently tested in clinical trials; however, a causative therapy is still not available and best supportive care is limited to oral glucocorticoids with numerous long-term side effects. Tamoxifen is a selective estrogen receptor regulator, and shows besides its antitumor activity also antioxidant actions and regulatory roles in the calcium homeostasis. In a mouse model of DMD, oral tamoxifen significantly improved muscle strength and reduced muscle fatigue. This multicenter, randomized, double-blind, placebo controlled phase 3 trial aims to demonstrate safety and efficacy of tamoxifen over placebo in pediatric patients with DMD. After completion of the double-blind phase, an open label extension of the study will be offered to all participants. METHODS/DESIGN At least 71 ambulant and up to 20 non-ambulant patients with DMD are planned to be enrolled at multiple European sites. Patients will be randomly assigned to receive either tamoxifen 20mg or placebo daily over 48 weeks. In the open-label extension phase, all patients will be offered to receive tamoxifen for further 48 weeks. The primary endpoint of the double-blind phase is defined as the change of the D1 domain of the motor function measure in ambulant patients or a change of the D2 domain in non-ambulant patients under tamoxifen compared to placebo. Secondary outcome measures include change in timed function tests, quantitative muscle testing, and quantitative MRI of thigh muscles. Laboratory analyses including biomarkers of tamoxifen metabolism and muscle dystrophy will also be assessed. DISCUSSION The aim of the study is to investigate whether tamoxifen can reduce disease progression in ambulant and non-ambulant DMD patients over 48 weeks. Motor function measure comprises the primary endpoint, whereas further clinical and radiological assessments and laboratory biomarkers are performed to provide more data on safety and efficacy. An adjacent open label extension phase is planned to test if earlier initiation of the treatment with tamoxifen (verum arm of double blind phase) compared to a delayed start can reduce disease progression more efficiently.

scholarly journals Tamoxifen in Duchenne muscular dystrophy (TAMDMD): study protocol for a multicenter, randomized, placebo-controlled, double-blind phase 3 trial

2019 ◽  
Author(s):  
Sara Nagy ◽  
Patricia Hafner ◽  
Simone Schmidt ◽  
Daniela Rubino-Nacht ◽  
Sabine Schädelin ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Motor Function ◽  
Open Label ◽  
Phase 3 ◽  
Double Blind ◽  
Safety And Efficacy ◽  
Open Label Extension ◽  
To Receive ◽  
Function Measure

Abstract BACKGROUND Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disorder of childhood with a devastating disease course. Several targeted gene therapies and molecular approaches have been or are currently tested in clinical trials; however, a causative therapy is still not available and best supportive care is limited to oral glucocorticoids with numerous long-term side effects. Tamoxifen is a selective estrogen receptor regulator, and shows besides its antitumor activity also antioxidant actions and regulatory roles in the calcium homeostasis. In a mouse model of DMD, oral tamoxifen significantly improved muscle strength and reduced muscle fatigue. This multicenter, randomized, double-blind, placebo controlled phase 3 trial aims to demonstrate safety and efficacy of tamoxifen over placebo in pediatric patients with DMD. After completion of the double-blind phase, an open label extension of the study will be offered to all participants. METHODS/DESIGN At least 71 ambulant and up to 20 non-ambulant patients with DMD are planned to be enrolled at multiple European sites. Patients will be randomly assigned to receive either tamoxifen 20mg or placebo daily over 48 weeks. In the open-label extension phase, all patients will be offered to receive tamoxifen for further 48 weeks. The primary endpoint of the double-blind phase is defined as the change of the D1 domain of the motor function measure in ambulant patients or a change of the D2 domain in non-ambulant patients under tamoxifen compared to placebo. Secondary outcome measures include change in timed function tests, quantitative muscle testing, and quantitative MRI of thigh muscles. Laboratory analyses including biomarkers of tamoxifen metabolism and muscle dystrophy will also be assessed. DISCUSSION The aim of the study is to investigate whether tamoxifen can reduce disease progression in ambulant and non-ambulant DMD patients over 48 weeks. Motor function measure comprises the primary endpoint, whereas further clinical and radiological assessments and laboratory biomarkers are performed to provide more data on safety and efficacy. An adjacent open label extension phase is planned to test if earlier initiation of the treatment with tamoxifen (verum arm of double blind phase) compared to a delayed start can reduce disease progression more efficiently.

scholarly journals Motor assessment in patients with Duchenne muscular dystrophy

2012 ◽  
Vol 70 (6) ◽  
pp. 416-421 ◽  
Author(s):  
Gabriela Palhares Campolina Diniz ◽  
Laura Maria de Lima Belizário Facury Lasmar ◽  
Juliana Gurgel Giannetti
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Motor Function ◽  
Muscular Strength ◽  
Muscle Force ◽  
Medical Research Council ◽  
Significant Loss ◽  
Strong Correlations ◽  
Function Measure

OBJECTIVE: Evaluate muscle force and motor function in patients with Duchenne muscular dystrophy (DMD) in a period of six months. METHOD: Twenty children and adolescents with diagnosis of DMD were evaluated trough: measurement of the strength of the flexors and extensors of the shoulder, elbow, wrist, knee and ankle through the Medical Research Council (MRC), and application of the Motor Function Measure (MFM). The patients were evaluated twice within a six-month interval. RESULTS: Loss of muscle strength was identified in the MRC score for upper proximal members (t=-2.17, p=0.04). In the MFM, it was noted significant loss in the dimension 1 (t=-3.06, p=0.006). Moderate and strong correlations were found between the scores for muscular strength and the MFM dimensions. CONCLUSION: The MFM scale was a useful instrument in the follow up of patients with DMD. Moreover, it is a more comprehensive scale to assess patients and very good for conducting trials to evaluate treatment.

Association Between Health-Related Quality of Life and Motor Function in Ambulant and Nonambulant Duchenne Muscular Dystrophy Patients

2019 ◽  
Vol 34 (14) ◽  
pp. 873-885
Author(s):  
Vanya Gocheva ◽  
Simone Schmidt ◽  
Anna-Lena Orsini ◽  
Patricia Hafner ◽  
Sabine Schaedelin ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Motor Function ◽  
Psychosocial Health ◽  
Health Related Quality ◽  
Related Quality ◽  
Health Related ◽  
Function Measure

This cross-sectional study assessed health-related quality of life (HRQOL) in ambulant and nonambulant patients with Duchenne muscular dystrophy, and explored the association between health-related quality of life and clinically assessed motor function. The Pediatric Quality of Life Inventory (PedsQL) Generic Core Scale and PedsQL Neuromuscular module were completed by 34 parent-child dyads. Association between PedsQL scores and overall motor abilities and the transfers and standing posture domain measured by the Motor Function Measure were examined. Child self-reported and parent proxy-reported mean PedsQL scores for children with Duchenne muscular dystrophy were lower than those for healthy children for the physical and psychosocial health-related quality of life. Fifty-six percent of patients reported clinically impaired psychosocial health-related quality of life scores. Several aspects of the generic and disease-specific health-related quality of life in patients with Duchenne muscular dystrophy were positively associated to overall motor function and transfers and standing posture domain. Associations remained stable when adjusted for age and corticosteroid use. The Motor Function Measure is clinically meaningful in the context of a patient’s day-to-day life.

Sign in / Sign up

Export Citation Format

Share Document