Spinal Muscular Atrophy - Emerging therapies: Experience from a tertiary care hospital
Sheffali Gulati, Madhulika Kabra, Rahul Sinha, Sonali Singh, Sayoni Roy Chowdhury, Arvinder Wander, Ankit Kumar Meena, Puneet Choudhary, Richa Tiwari, Rishi Sharma, Sakshi Ojha, Pawan Ghanghoria, Aakash M, Gautam Kamila, Anuja Agarwala, Kanak Lata Gupta, Vipsa Gupta, Shivani Tripathi, Vinod Dahiya
Objective: The newer emerging therapies in spinal muscular atrophy(SMA) have shown encouraging short-term outcomes in terms of motor function scores and life expectancy. Nusinersen, Zolgensma and Risdiplam are the drugs that have been approved by the US-FDA for SMA. Due to their prohibitive exorbitant costs, these are being mostly provided to SMA patients under humanitarian access programs. We present our data of children who have received these medications at our center over the last 2 years and 3 months.
Methods: Two groups of patients(12 and 35) have been receiving intrathecal Nusinersen and are under follow-up. Change in the Modified Hammersmith functional motor scale extended version(HFMSE) is being evaluated. Nine patients(humanitarian-access:7) received intravenous Zolgensma and are under follow-up. Nine children(humanitarian-access:7) have been receiving Risdiplam, out of which 3 have a follow-up of more than 1-year.
Results: Twelve children have been receiving Nusinersen for >2 years, out of which 11 have shown improvement in HFMSE scores(non-compliance: 1). 35 children have a follow up of <6 months. Nine children who have received Zolgensma, showed significant improvement in motor function (those with SMA-II can now stand with orthoses and those with SMA-I can sit independently without support). There has been reduction in the incidence of lower respiratory tract infections. Three children who have been receiving Risdiplam for > 1 year, have shown significant improvement in HFMSE scores, with gain in motor milestones.
Conclusion: The newer emerging therapies in SMA have shown favorable results in improving the short-term functional outcome.
Keywords: Spinal Muscular Atrophy, Nusinersen, Zolgensma, Risdiplam
Sheffali Gulati
All India Institute of Medical Sciences, New Delhi
India
Madhulika Kabra
All India Institute of Medical Sciences, New Delhi
India
Rahul Sinha
Command Hospital, Chandi Mandir
India
Sonali Singh
Institute of Neurosciences
India
Sayoni Roy Chowdhury
All India Institute of Medical Sciences, New Delhi
India
Arvinder Wander
All India Institute of Medical Sciences, New Delhi
India
Ankit Kumar Meena
All India Institute of Medical Sciences, New Delhi
India
Puneet Choudhary
All India Institute of Medical Sciences, New Delhi
India
Richa Tiwari
All India Institute of Medical Sciences, New Delhi
India
Objective: The newer emerging therapies in spinal muscular atrophy(SMA) have shown encouraging short-term outcomes in terms of motor function scores and life expectancy. Nusinersen, Zolgensma and Risdiplam are the drugs that have been approved by the US-FDA for SMA. Due to their prohibitive exorbitant costs, these are being mostly provided to SMA patients under humanitarian access programs. We present our data of children who have received these medications at our center over the last 2 years and 3 months.
Methods: Two groups of patients(12 and 35) have been receiving intrathecal Nusinersen and are under follow-up. Change in the Modified Hammersmith functional motor scale extended version(HFMSE) is being evaluated. Nine patients(humanitarian-access:7) received intravenous Zolgensma and are under follow-up. Nine children(humanitarian-access:7) have been receiving Risdiplam, out of which 3 have a follow-up of more than 1-year.
Results: Twelve children have been receiving Nusinersen for >2 years, out of which 11 have shown improvement in HFMSE scores(non-compliance: 1). 35 children have a follow up of <6 months. Nine children who have received Zolgensma, showed significant improvement in motor function (those with SMA-II can now stand with orthoses and those with SMA-I can sit independently without support). There has been reduction in the incidence of lower respiratory tract infections. Three children who have been receiving Risdiplam for > 1 year, have shown significant improvement in HFMSE scores, with gain in motor milestones.
Conclusion: The newer emerging therapies in SMA have shown favorable results in improving the short-term functional outcome.
Keywords: Spinal Muscular Atrophy, Nusinersen, Zolgensma, Risdiplam
Sheffali Gulati
All India Institute of Medical Sciences, New Delhi
India
Madhulika Kabra
All India Institute of Medical Sciences, New Delhi
India
Rahul Sinha
Command Hospital, Chandi Mandir
India
Sonali Singh
Institute of Neurosciences
India
Sayoni Roy Chowdhury
All India Institute of Medical Sciences, New Delhi
India
Arvinder Wander
All India Institute of Medical Sciences, New Delhi
India
Ankit Kumar Meena
All India Institute of Medical Sciences, New Delhi
India
Puneet Choudhary
All India Institute of Medical Sciences, New Delhi
India
Richa Tiwari
All India Institute of Medical Sciences, New Delhi
India
