40 years ago, the tireless efforts of Abbey Meyers on behalf of her son who was diagnosed with Tourette syndrome resulted in the passage of the Orphan Drug Act.
That historic legislation has allowed for the development of what are known as orphan drugs for rare diseases like Huntington’s Disease, ALS, Rett Syndrome and Muscular Dystrophy. It also yielded the launch of the National Organization for Rare Disorders (NORD).
Karin Hoelzer, the director of policy and regulatory affairs for NORD, and James Levine, the president of Fondation Ipsen, spoke to Covering Rare Disease fellows on the Orphan Drug Act’s impact on rare disease equity worldwide after 40 years.
Key quotes from Karin Hoelzer, Director of Policy and Regulatory Affairs at the National Organization for Rare Diseases:
“I think in today’s society we tend to have a tendency to focus on differences. And living in Washington DC it’s very rare to have bipartisan support and really have issues that reach across the aisle, but rare diseases tend to be one of them. And so again, as you look at the Orphan Drug Act and the story of the rare disease community, I hope these are the types of stories that you’ll continue to focus on.”
“The second point that I hope you will take away from the Orphan Drug Act is that quite modest investments can really make a world of difference. If you look at what incentives the Orphan Drug Act actually provided, the first was research grant funding. But if you look at how much it costs to bring any drug to market, and in particular, Orphan Drugs, the grant funding is really a drop in the bucket. But oftentimes it’s tremendously important for getting the initial research done for De-risking the very early research and for attracting pharma companies into that realm.
Similarly, one of the Orhan Drug Act incentives as a tax credit, which means that basically the pharmaceutical company can write off some of the money that they spent to develop the drug for in clinical research. And again, we’re not talking about huge incentives, huge amounts of money, but even that relatively modest amount of money makes a big difference in making sure that it is lucrative and it is feasible for drug companies to develop drugs for rare diseases.”
“When the Orphan Drug Act was passed, there were 38, and I repeat that 38 drugs were available to treat rare diseases. Today we have more than 800 drugs for orphan diseases.”
“Our patients also tend to play a really important role in collecting data and research. Very different from many more common diseases where oftentimes natural history studies and just the background on the disease is for a large part collected by the rare disease community itself.”
Key quotes from James Levine, President of Fondation Ipsen
“Doctors, I’m one of them, are really bad at saying to patients, ‘I don’t know what’s going on. I’m going to seek help from somebody else.’ Doctors are not well-trained in understanding multiple genetic testing and how genetics are now influencing how we understand rare diseases and that access to testing.”
“But the reality is when you actually work in field hospitals, the way of thinking isn’t going to take a very, very complex pediatric case and convert it into a rare disease pathway of diagnosis. All that’s going to actually happen in reality is that these kids, these children who may not be developing in the sort of standard fashion, who may be malnourished, are going to get sort of, if you like, band-aid therapy to carry them through to the next year and then offload them into other parts of the healthcare systems. …
“And all of this comes back to this ultimate concept with 7,000 diseases, 70% of them are genetic, 50% of them affect children. For 300 to 400 million people across the world, 95% of these individuals, even when correctly diagnosed, do not have a treatment. There is a massive, massive therapeutic hole in the world.”
“One of the huge disparities that you’re going to find as you start talking to people living with rare diseases, whether they’re adult or children, the diagnosis itself is isolating.”
“So you walk into a room, people are looking over the wheelchair, and these are human stories, these are massive human stories. It relates of course to the idea of stigmatization. If you don’t fit the mold, you’re not part of the system. … And the psychological and social consequences of that, that alone, stigmatization is something please, you as a global audience of journalists, this is a story to tell, please.”
Access the full transcript here.
This training is sponsored by Fondation Ipsen. NPF is solely responsible for the content.
