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Bridging the Gap Between High Cost Treatments for Spinal Muscular Atrophy and Access to Care in Low and Middle Income Settings - Newer Treatments, Changing Paradigms

Administrator: Neelu Desai

Spinal Muscular Atrophy- Newer Treatments, Changing Paradigms

SMA -Overview of newer therapies and Indian experience
Neelu Desai

The talk would give an overall overview of Spinal muscular atrophy (SMA), the extent of the existing problem, the problems faced by these children,  the underlying defect and the targets of therapy. It would elucidate how each treatment option got approved with the relevant research trials and their results. The main focus of this talk would be on the three main therapies ie Onasemnogene abeparvovec, Nusinersen and Risdiplam. The mechanism of action of each of these therapies, benefits  seen and adverse effects encountered with each therapy will be discussed.  The comparison between each of these treatment modalities, the approved age and route of administration and caution to be taken during therapy will be elucidated. During latter part of the talk, the speaker will highlight the Indian experience with the use of these three treatment options. As there are many centres in India who are now routinely using these therapies, a cumulative data of their experience with side effects encountered and motor benefits seen in these patients will be showcased.

 

SMA Newer Therapies – Changing Paradigms in England
Pinki Munot

Over the past decade, Spinal Muscular Atrophy has seen a breakthrough with the approval of three SMN enhancing therapies that are becoming increasingly available to patients worldwide. Nusinersen is an antisense oligonucleotide (ASO) administered by intrathecal injections; it acts by modifying the SMN2 pre-mRNA splicing thus increasing the amount of functional SMN. Risdiplam is a small molecule administered daily by mouth and acts on the SMN2 pre-mRNA splicing. Onasemnogene abeparvovec is an AAV9 mediated gene replacement therapy delivering a human SMN cDNA transgene by a single intravenous infusion. All these treatments have contributed significantly to changing the natural history of SMA, and particularly that of severe, early onset SMA1. This session will provide an overview of the real-world clinical experience of safety and efficacy from the implementation of these treatments in England. This includes the data on 275 children treated with Nusinersen, 120 treated with Risdiplam and 90 SMA type 1 treated with Onasemnogene abeparvovec. A brief note on the drugs in pipeline for SMA therapy will also be made.

 

Bridging the Gap Between High Cost Treatments for Spinal Muscular Atrophy and Access to Care in Low and Middle Income Settings

Towards the early diagnosis and treatment of neonates with SMA: challenges and perspectives
Smilu Mohanlal

The genetic basis of SMA will be covered and how its knowledge has led to the development of disease modifying therapies including antisense oligonucleotides (Nusinersen), splicing modifiers (Evrysdi) and gene therapy (Onasemnogene Abeparvovec). An overview of the characteristics of the genetic diagnosis of this disease will be provided. This will be used to further discuss the possibilities and challenges that newborn screening (NBS) for SMA faces. A discussion will be elaborated of how regardless of the complexity of NBS, it still remains the best window of opportunity for early diagnosis and treatment to avoid more severe manifestations, as well as a new view and perspective of patient and family expectations, genetic counselling and multidisciplinary care: a truly Copernican revolution of disease history. Finally, the aim of primary prevention to detect SMA carriers via population screening (preconception), which may influence the incidence and/or prevalence of the disease will be discussed.

 

Access to SMA therapies and treatments in complex socio-economic scenarios: the Latin America experience
Martín Hyland 

According to the United Nations ECLAC, Latin America is the  most unequal region in the world, with one of its main challenges being health inequality. It is estimated that 34% of total health spending arises from out of pocket health expenditures. Over 80% of the population live in urban settings, with 21% of them living in slums or other settlements with inadequate housing conditions where basic services are not available. The fragmented nature of health systems in many Latin American countries also contributes to further enhancing the access gap, since for example, unused capacity in private settings coexists with severe shortages in public ones. As a rare disease with high cost treatments, Spinal Muscular Atrophy (SMA) is especially vulnerable to this multifaceted scenario, where even after regulatory approval many access pathways may be blocked due to lack of reimbursement or it not being considered a priority in health expenditure for local governments. It is the purpose of this review to give an overview of the current state of access to disease modifying therapies for SMA in the Latin American region. Aside from the obvious advances that this region requires regarding its economic and social situations in general, joint efforts between both public and private funded enterprises must be put into practice to develop strategies that will help to bridge the inequality gap between these complex socio-economical scenarios and access to appropriate care for all patients.