scholarly journals Nusinersen for SMA: expanded access programme

2018 ◽  
Vol 89 (9) ◽  
pp. 937-942 ◽  
Author(s):  
Michelle A Farrar ◽  
Hooi Ling Teoh ◽  
Kate A Carey ◽  
Anita Cairns ◽  
Robin Forbes ◽  
...  
Keyword(s):  
Ethical Issues ◽  
Age Of Onset ◽  
Muscular Atrophy ◽  
Clinical Care ◽  
Open Label ◽  
Expanded Access ◽  
Expanded Access Programme ◽  
Diagnostic Characteristics ◽  
Access Programme

BackgroundSpinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1.MethodsAn Australian multicentre, open-label EAP for nusinersen enrolled patients with infantile-onset SMA type 1 from November 2016 to September 2017. Standard-of-care medical therapy and treatment with intrathecal nusinersen were provided to all patients. Clinical and diagnostic characteristics, molecular genetics, treatment administered, and functional motor outcomes were assessed.ResultsA total of 20 patients with SMA type 1 met the inclusion criteria, of whom 16 consented and received nusinersen treatment. Median time to diagnosis from symptom onset was 5.0 months and was correlated with age of onset (r=0.54, P<0.05). Management shifts included proactive nutritional and pulmonary support in all newly diagnosed patients with increased complexity of decision making. Supplemental nutrition with or without nocturnal non-invasive ventilation was implemented during follow-up in new diagnoses with age of onset <3 months and 2 SMN2 copies.ConclusionsThe nusinersen EAP highlights difficulties in achieving early diagnosis and/or prevention, the evolution of optimal clinical care in a time of uncertain prognostication, resource implications and ethical issues in clinical practice for SMA type 1. These challenges are broadly relevant to the realisation of all novel therapeutics in neurological disorders.

41 Gefitinib for patients with advanced NSCLC treated on the expanded access programme: A institution experience

Lung Cancer ◽  
2005 ◽  
Vol 49 ◽  
pp. S389-S390
Author(s):  
M. Cruz ◽  
A. Katz ◽  
S. Simon ◽  
J. Tabacof ◽  
R. Gansl ◽  
...  
Keyword(s):  
Advanced Nsclc ◽  
Expanded Access ◽  
Expanded Access Programme ◽  
Access Programme

scholarly journals Spanish Melanoma Multidisciplinary Group (GEM) Experience with Ipilimumab (IPI) in the Expanded Access Programme (EAP)

2012 ◽  
Vol 23 ◽  
pp. ix374
Author(s):  
S. Martin Algarra ◽  
L. Alonso ◽  
J. Valdivia ◽  
A. Garcia Castaño ◽  
V. Escrig ◽  
...  
Keyword(s):  
Expanded Access ◽  
Expanded Access Programme ◽  
Access Programme ◽  
Multidisciplinary Group

scholarly journals Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1

2019 ◽  
Vol 9 (5) ◽  
pp. 443-454 ◽  
Author(s):  
Nicholas E. Johnson ◽  
Eugenio Zapata Aldana ◽  
Nathalie Angeard ◽  
Tetsuo Ashizawa ◽  
Kiera N. Berggren ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Age Of Onset ◽  
Clinical Care ◽  
Nominal Group Technique ◽  
Nominal Group ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Childhood Onset ◽  
Single Text

Purpose of reviewMyotonic dystrophy type 1 is a multisystemic disorder caused by a noncoding triplet repeat. The age of onset is variable across the lifespan, but in its most severe form, the symptoms appear at birth (congenital myotonic dystrophy) or in the pediatric age range (childhood-onset myotonic dystrophy). These children have a range of disabilities that reduce the lifespan and cause significant morbidity. Currently, there are no agreed upon recommendations for caring for these children.Recent findingsThe Myotonic Dystrophy Foundation recruited 11 international clinicians who are experienced with congenital and childhood-onset myotonic dystrophy to create consensus-based care recommendations. The experts used a 2-step methodology using elements of the single text procedure and nominal group technique. Completion of this process has led to the development of clinical care recommendations for this population.SummaryChildren with myotonic dystrophy often require monitoring and interventions to improve the lifespan and quality of life. The resulting recommendations are intended to standardize and improve the care of children with myotonic dystrophy.

scholarly journals P.064 FIREFISH Part 1: 1-year results on motor function in infants with Type 1 spinal muscular atrophy (SMA) receiving risdiplam (RG7916)

2019 ◽  
Vol 46 (s1) ◽  
pp. S31 ◽  
Author(s):  
TJ Seabrook ◽  
G Baranello ◽  
L Servais ◽  
JW Day ◽  
N Deconinck ◽  
...  
Keyword(s):  
Motor Function ◽  
Muscular Atrophy ◽  
Protein A ◽  
Analysis Data ◽  
Open Label ◽  
Protein Levels ◽  
Gene Copies ◽  
Patient Withdrawal ◽  
Smn Protein

Background: SMA is characterized by reduced levels of survival of motor neuron (SMN) protein from deletions and/or mutations of the SMN1 gene. While SMN1 produces full-length SMN protein, a second gene, SMN2, produces low levels of functional SMN protein. Risdiplam (RG7916/RO7034067) is an investigational, orally administered, centrally and peripherally distributed small molecule that modulates pre-mRNA splicing of SMN2 to increase SMN protein levels. Methods: FIREFISH (NCT02913482) is an ongoing, multicenter, open-label operationally seamless study of risdiplam in infants aged 1–7 months with Type 1 SMA and two SMN2 gene copies. Exploratory Part 1 (n=21) assesses the safety, tolerability, pharmacokinetics and pharmacodynamics of different risdiplam dose levels. Confirmatory Part 2 (n=40) is assessing the safety and efficacy of risdiplam. Results: In a Part 1 interim analysis (data-cut 09/07/18), 93% (13/14) of babies had ≥4-point improvement in CHOP-INTEND total score from baseline at Day 245, with a median change of 16 points. The number of infants meeting HINE-2 motor milestones (baseline to Day 245) increased. To date (data-cut 09/07/18), no drug-related safety findings have led to patient withdrawal. No significant ophthalmological findings have been observed. Conclusions: In FIREFISH Part 1, risdiplam improved motor function in infants with Type 1 SMA.

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