The Rs 16-cr drug named Zolgensma was administered to 23-month-old baby Ellen with Spinal Muscular Atrophy (SMA) Type 1, which is an extremely rare genetic disease.
If one is diagnosed with ultra-rare genetic disease Spinal Muscular Atrophy (SMA) Type 1 at the earliest stage, the only option available now is to get Zolgensma, the world’s costliest drug for gene therapy used to treat children below two years.
Priced at Rs 16 crore after excluding hefty import duties & GST (which approximately amounts to additional Rs 6.5 crore but is usually waived off upon requesting the government), the costliest drug is unaffordable for rare disease patients on their own unless they resort to crowdfunding or is supported under the Novartis Managed Access Programme.
This is how Baby Ellen, daughter of Rayapudi Praveen and resident of Bhadradri Kothagudem district of Telangana, managed to get the drug at a private hospital in Hyderabad on August 6.
Genetic Disease: Symptoms of SMA Type 1
Known to affect the nerves and muscles, the symptoms of SMA Type 1 include difficulty in carrying out basic activities like sitting up, lifting the head, swallowing milk, and even breathing for the child.
SMA is currently the leading genetic cause of infant death worldwide, and it affects one in 10,000 babies, reports Business Standard.
The burden of SMA Type 1 cases in India is unknown but in one report published in The New Indian Express, it is stated that in Tamil Nadu alone, annually 90-100 such cases are being reported.
Eligibility Criteria: Novartis Managed Access Program
Though there are several instances of rare disease patients with Spinal Muscular Atrophy (SMA) Type 1 successfully raising Rs 16 crore through crowdfunding, this is unlikely to work for all such patients.
Hence, the global Novartis Managed Access Program may come as a rescue for such patients. However, it is unlikely that all those who apply for it would qualify under this programme as Novartis has specific guidelines & criteria for approval of such patients under their scheme.
The eligibility criteria for the Novartis gene therapies managed access program include:
- Only patients under the age of two with genetically confirmed mutations in the SMN1 gene are eligible to apply regardless of type, copy number, or symptom onset.
- The patient must be a citizen or legal resident of, and eligible for healthcare in, a country where Zolgensma has not received regulatory approval or formal access approval.
- Implementation of the program will need to comply with the specific legal and regulatory framework that applies in every country.
Once one fulfils all the above criteria, the rare disease patient seeking Novartis-sponsored free gene therapy has to make a formal application through their treating physician.
Crowdfunding: Unpredictable
Ellen’s father Praveen, who works as a medical representative, along with his wife had set up a fundraiser on a portal, to raise funds for Zolgensma but the family could raise only Rs 79.36 lakh, according to a report in Business Standard.
However, crowdfunding is unpredictable as it works for some and does not work for others. For instance, the family of 18-month-old Muhammed in Kerala managed to raise a whopping Rs 46 crore through crowdfunding with generous help from 7.77 lakh people, according to a report published by OnManorama.
