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Risdiplam for the treatment of adults with spinal muscular atrophy: Experience of the Northern Ireland neuromuscular service.
McCluskey, Gavin; Lamb, Siobhan; Mason, Sarah; NicFhirleinn, Grainne; Douglas, Isobel; Tirupathi, Sandya; Morrison, Karen E; McConville, John.
  • McCluskey G; Department of Neurology, Belfast City Hospital, Belfast, UK.
  • Lamb S; Northern Ireland Centre for Stratified Medicine, Altnagelvin Hospital Campus, Ulster University, Derry, UK.
  • Mason S; Department of Neurology, Belfast City Hospital, Belfast, UK.
  • NicFhirleinn G; Department of Neurology, Belfast City Hospital, Belfast, UK.
  • Douglas I; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK.
  • Tirupathi S; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK.
  • Morrison KE; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK.
  • McConville J; Department of Neurology, Belfast City Hospital, Belfast, UK.
Muscle Nerve ; 2022 Nov 16.
Article in English | MEDLINE | ID: covidwho-2243237
ABSTRACT
INTRODUCTION/

AIMS:

Risdiplam is the newest available treatment for patients with spinal muscular atrophy (SMA). There is little information on its use in adults. We present the clinical experience of adults with SMA treated with risdiplam through the Early Access to Medicines Scheme (EAMS) in Northern Ireland.

METHODS:

All adults with Type 2 SMA attending the regional neuromuscular clinic were offered risdiplam treatment. Patients had assessments of respiratory function, the Epworth Sleepiness Scale (ESS), Quality of Life Measure for People with Slowly Progressive and Genetic Neuromuscular Disease (QOLM), and Egen Klassifikation 2 (EK2) every 3 mo and the Revised Upper Limb Module for SMA (RULM) at baseline and 6 mo. All assessments other than the RULM were carried out virtually.

RESULTS:

Six of seven patients who were offered risdiplam consented to treatment through the EAMS (five female, one male, mean age 33.7 y). It was generally well tolerated other than skin photosensitivity in all patients. All patients remained on therapy at 9 mo. All reported meaningful improvements in overall strength, sense of wellbeing, and speech quality. There was no change in respiratory function, daytime hypersomnolence, or upper limb function (all p > .05). There was improvement in the QOLM (p = .027) and EK2 (p = .009).

DISCUSSION:

Our study raises hopes that risdiplam may be efficacious in adults; however, more systematic studies in larger cohorts are needed before drawing any definitive conclusions. This study also demonstrated the feasibility of virtual assessments.
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Full text: Available Collection: International databases Database: MEDLINE Type of study: Cohort study / Observational study / Prognostic study / Systematic review/Meta Analysis Language: English Year: 2022 Document Type: Article Affiliation country: Mus.27755

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Full text: Available Collection: International databases Database: MEDLINE Type of study: Cohort study / Observational study / Prognostic study / Systematic review/Meta Analysis Language: English Year: 2022 Document Type: Article Affiliation country: Mus.27755