Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

(2020) Diane E. Frank et al.   NEUROLOGY

Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy

(2020) Ali Jalali et al.   JOURNAL OF PEDIATRICS

Suitability of external controls for drug evaluation in Duchenne muscular dystrophy

(2020) Nathalie Goemans et al.   NEUROLOGY

X-linked myotubular myopathy

(2019) Mélanie Annoussamy et al.   NEUROLOGY

Incorporating individual historical controls and aggregate treatment effect estimates into a Bayesian survival trial: a simulation study

(2019) Caroline Brard et al.   BMC Medical Research Methodology

Defining consensus opinion to develop randomised controlled trials in rare diseases using Bayesian design: An example of a proposed trial of adalimumab versus pamidronate for children with CNO/CRMO

(2019) A. V. Ramanan et al.   PLoS One

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

(2019) Robert J Graham et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Statistical considerations for rare diseases drug development

(2019) Shein-Chung Chow et al.   Journal of Biopharmaceutical Statistics

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

(2019) Darryl C. De Vivo et al.   NEUROMUSCULAR DISORDERS

244th ENMC International Workshop: Newborn screening in Spinal Muscular Atrophy May 10-12, 2019, Hoofdorp, The Netherlands

(2019) Tamara Dangouloff et al.   NEUROMUSCULAR DISORDERS

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

(2019) Tamara Dangouloff et al.   Therapeutics and Clinical Risk Management

Eteplirsen treatment for Duchenne muscular dystrophy

(2018) Jay S. Charleston et al.   NEUROLOGY

An integrated modelling methodology for estimating the prevalence of centronuclear myopathy

(2018) I. Vandersmissen et al.   NEUROMUSCULAR DISORDERS

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

(2018) Aurélie Chabanon et al.   PLoS One

Bayesian model of disease progression in GNE myopathy

(2018) M. Quintana et al.   STATISTICS IN MEDICINE

A Sequel to the Eteplirsen Saga: Eteplirsen Is Approved in the United States but Was Not Approved in Europe

(2018) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

(2017) Alan H. Beggs et al.   MUSCLE & NERVE

A natural history study of X-linked myotubular myopathy

(2017) Kimberly Amburgey et al.   NEUROLOGY

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial

(2015) Gunnar M Buyse et al.   LANCET

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

(2014) Johann Böhm et al.   BRAIN

Eteplirsen for the treatment of Duchenne muscular dystrophy

(2013) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Ambulatory capacity and disease progression as measured by the 6-minute-walk-distance in Duchenne muscular dystrophy subjects on daily corticosteroids

(2013) Nathalie Goemans et al.   NEUROMUSCULAR DISORDERS

Centronuclear (myotubular) myopathy

(2008) Heinz Jungbluth et al.   Orphanet Journal of Rare Diseases