Spinal Muscular Atrophy (SMA) is a recessively inherited neuromuscular condition. Revolutionary novel treatments have been approved in the last decade, but unfortunately at a cost that leaves them largely out of the reach of patients in resource poor countries.

This case series describes the first 3 South African patients diagnosed with SMA who have gained access to Risdiplam, highlighting the challenges they have faced accessing treatment and describing their clinical outcome on Risdiplam.

The challenges faced by South African patients accessing treatment for SMA will also be discussed.

The first case is a boy with SMA type 2 who was diagnosed at 2 years and 3 months of age, who accessed treatment 1 year later. The second case is a boy with SMA type 1, who was diagnosed at 7 months of age and accessed treatment 5 months later. The third case is a man with SMA type 3 who was diagnosed in childhood and accessed treatment at 48 years of age. All 3 patients are on private medical insurance schemes, 2 of which are funding the cost of Risdiplam and 1 patient received treatment as part of a compassionate use program.

Disclosure: One of the patients in the study has been funded by Roche's Compassionate Use Program.

Britta McLaren
Morningside Mediclinic
South Africa

Micheal Lippert
Netcare Unitas Hospital
South Africa

Micheal Isaacs
Netcare Rosebank Hospital
South Africa

Gail Scher
The University of the Witwatersrand
South Africa