2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Experience in Delivering Free of Cost Gene Therapy for Spinal Muscular Atrophy Using the Managed Access Program In Pakistan

Pdf Summary

This document discusses the experience of delivering free gene therapy for Spinal Muscular Atrophy (SMA) in Pakistan through the Managed Access Program (MAP). SMA is a genetic disorder that can now be treated with the gene therapy drug, Zolgensma®. However, due to its high cost, access to the drug is limited, particularly in low- to middle-income countries like Pakistan.<br /><br />The MAP is a program that aims to provide free doses of Zolgensma® to non-affording patients. However, the document highlights that 80% of the patients enrolled in the program either died or became ineligible to receive the drug. Over a 31-month period, only 15% of patients successfully received Zolgensma®.<br /><br />The study conducted a retrospective chart review of patients referred to the Genetics Clinic at Aga Khan University Hospital in Karachi. A total of 48 patients with clinical features of SMA and confirmed homozygous deletion in SMN1 were eligible for enrollment. Of these patients, five had positive titres of AAV9 antibodies, and only 34 entered the allocation phase. Out of the 34 patients, only nine were successful in receiving the drug through the blinded allocation system. Five of these patients have received the drug and are showing clinical improvement. However, three patients had expired, and one became ineligible due to starting another treatment.<br /><br />The average time from evaluation to enrollment in the program took six weeks, while the average time from enrollment to drug delivery was 18 weeks. Unfortunately, 71% of patients died while their application was being processed or while waiting for allocation. Additionally, 9% of patients surpassed the age limit of two years, rendering them ineligible.<br /><br />Overall, this study highlights the challenges of providing free gene therapy in low-resource settings like Pakistan and the need for improvement in access to life-saving treatments for SMA patients.

Asset Subtitle

Presenting Author - Salman Kirmani, Dr., MBBS, FACMG; Co-Author - Fizza Akbar, BSc, MSc; Co-Author - Arif Mehboobali, Mr., MBA; Co-Author - Sidra Kaleem, Dr., MBBS;

Meta Tag

Brain/Nervous System

Therapy

Co-Author Fizza Akbar, BSc, MSc

Co-Author Arif Mehboobali, Mr., MBA

Co-Author Sidra Kaleem, Dr., MBBS

Presenting Author Salman Kirmani, Dr., MBBS, FACMG

Keywords

gene therapy

Spinal Muscular Atrophy

SMA

Managed Access Program

MAP

Zolgensma

low- to middle-income countries

retrospective chart review

AAV9 antibodies

blinded allocation system