Learn about patient access to AS drugs once approved

First of all, let me introduce myself for those that don’t know me. My name is Lauren Hoffer, and I have been a FAST board member since February 2020. I live in Austin, TX USA with my husband, Greg, and my two sons, Charlie (4) and Ben (5) – who lives with AS, UPD.

My paid job is an IP litigation attorney at Dell Technologies. I am a 20+ year lawyer, University of Texas – Austin, undergraduate, and Georgetown University Law Center, law degree. My paid job is multifaceted, but it includes negotiating contracts that include a significant intellectual property component (high tech – after all – includes a lot of cutting-edge ideas), valuing intellectual property, and policy work around intellectual property. High-tech companies and pharmaceutical companies are the most active groups of stakeholders in intellectual property policy as both industries are heavily reliant on research and development.

I have been grateful to have skills that translate into something that is helpful for Ben and all of our loved ones living with AS, which takes me to one aspect of my unpaid job at FAST - the most gratifying work I have ever done. I am part of the team working on market access to a drug from a payer perspective.
There has been some online discussion of the cost of gene (or gene expression) altering therapeutics and how any of us will afford them. I think about this too, as do those on the FAST Board individually and as a whole. I know the ASF Board does as well.

The prices for approved Antisense Oligonucleotides (ASOs) – which is one of the modalities Angelman syndrome currently has in clinical trials – are steep, and that is a huge understatement. The ASO I have followed the closest is Spinraza® (nusinersen), which treats Spinal Muscular Atrophy in all its forms – including the most deadly, can be three quarters of a million dollars in the first year. And that drug is a miracle – quite literally saving lives. And soon thereafter a gene therapy was approved for use in patients less than 2 years of age with SMA called Zolgensma® (onasemnogene abeparvovec-xioi)– with a price tag of $2.125M. And there is a possibility that some people will do well with both drugs at the same time, although this is being studied.

See the below chart of the list prices for Oligonucleotides currently approved in the United States by the FDA.[1]

PriceFDA ApprovalDrug nameCompanyIndicationType
n/a1998Vitravene (Fomivirsen)Isis Pharmaecuticals/Novartis OphthalmicsCytomegalovirus (CMV) RetinitisAntisense Oligonucleotide
$176,000 a year2013Kynamro (mipomersen sodium)Kastle Therapeutics LLCHomozygous Familial HypercholesterolemiaAntisense Oligonucleotide
$750,000 - $1.5M a year2016Exondys 51 (eteplirsen)Sarepta TherapeuticsDuchenne Muscular DystrophyAntisense Oligonucleotide
$625,000 to
$750,000 1st year
Every year thereafter
2016Spinraza (nusinersen)BiogenSpinal Muscular AtrophyAntisense Oligonucleotide
$9,665.50 per week2018Tegsedi (inotersen sodium)Akcea TherapeuticsFamilial Amyloid NeuropathiesAntisense Oligonucleotide
$748,000 per year2019Vyondys 53 (golodirsen)Sarepta TherapeuticsDuchenne Muscular DystrophyAntisense Oligonucleotide
per year
2020Viltepso (Viltolarsen)Nippon Shinyaku with NCNPDuchenne Muscular DystrophyAntisense Oligonucleotide
per year
2021AMONDYS 45 (Casimersen)Sarepta TherapeuticsDuchenne Muscular DystrophyAntisense Oligonucleotide

Can FAST alone pay for people with Angelman to get a drug if one is approved? No. Doing the math on the types of price tags that could be associated with these drugs – FAST would only be able to fund around 50-100 people for one year. How, in the world, would anyone decide who that is? Additionally, after that one year, FAST would be out of money – with no money left to continue funding further therapeutics. We are all so hopeful that the investigational ASOs will provide benefit for our loved ones living with Angelman syndrome. But I don’t think it will be the end of the quest, and currently the drugs have not even been studied in those living with UPD / ICD / Mosaic genotypes. To stop research now would potentially be forgetting all genotypes and ages.

How do most of us pay for drugs we take and those our children take? Government, which in the US is Medicaid and Medicare, and private insurance. These possible drugs for AS should be no different. It should be paid for like other prescription drugs are paid for.

Here is what FAST is doing right now and has been working on to help educate insurance companies and Medicaid so that they will cover our drugs:

Market Access Consultant: For the last year, we have been working with an industry-leading pricing and reimbursement/market access consultant, who is a London School of Economics graduate and was the lead market access, pricing and reimbursement specialist for a recently FDA-approved gene therapy. This drug is on the market and in people, both in the US and globally. Our consultant has laid out a roadmap as to what FAST – as a patient organization – can and should do to prepare to meet with payers and support timely patient access to therapies for AS once approved. Payers are – governments (in the US, it is Medicaid and Medicare), private insurance companies, and in some cases, employers. After having laid out that roadmap - she is helping us execute on it. We are also working with the ASF in executing to this strategy.

We are paying her, and this is another place FAST’s money, and the money our community raises for FAST, goes.

Healthcare Economics Firm: The first thing our Market Access Consultant did was hire a healthcare economics firm. These are people who help lay out the business case for payers – insurance companies, businesses, and governments to pay for a drug. In short, putting dollar figures on burden of living with AS on a person and a family - and an insurance company. Putting aside how life-altering these therapies would be, this analysis helps payers with the black and white – how much does AS cost us without a drug versus how much would a drug eliminate part of our expenses for people living with AS. It is a bit of a cold / hard way to look at AS and what a medicine will do – but this is part of the equation that payers will look at, and something that we need to do.

Our Healthcare Economics Firm first looked at everything that anyone in the AS space has done. FAST Australia has done some great analysis. We have the amazing Natural History Studies and Registry / Ladder databases. We have a lot of good data points. We had many phone calls with people who have led these efforts. Our firm identified what we are missing. We will be rolling out a cost of living with AS caregiver survey. This will be a bit of work – but what else is new – and it will help us really put a dollar figure on how much we, ourselves are spending. Stay tuned for that rollout, which we hope will be this year.

They have suggested analyzing our Natural History Study to understand the relationship between core study outcomes and key economic measures. For children who score higher on the Bayley, Vineland or ORCA - do they have less hospitalizations, less therapies to pay for, etc. In other words, does an improvement in any of these outcome measures cause AS to cost less? This is a study we will may undertake in the next year as well, and a place where funds could go.

They have also proposed analyzing insurance data that has been attached to the ICD-10 Code. Q93.51. Thank you Terry Jo Bichell! If you have not made sure that your doctors are using it – please make sure! Use it! This data will help us understand what our insurance companies and governments are paying in our AS-related claims.

Speaking of Terry Jo - she has also championed the saddest of our metrics – life expectancy for those living with AS. Through the ICD-10 code, her Facebook group on causes of death, and grassroots efforts to note our community losses, we will be able to put an educated guess on actual life expectancy. The FDA and payers will be interested if a drug changes life expectancy.

Again, FAST has paid experts - something for which our community has raised dollars – to analyze what materials we need to present to payers to give them the information they need to understand that it makes economic sense to pay for curative drugs for AS.

We have a bi-weekly Zoom meeting for updates and To Dos, and I email with them regularly during the week.

Medicaid Timeline: FAST has also engaged a firm that specializes in communicating with Medicaid about new drugs and helping to get Medicaid to cover those drugs. In the U.S. most of our children are covered by state Medicaid programs. We suspect that Medicaid will be our largest payer overall. Medicaid is individually governed by the 50 individual states in the U.S. The joke I have been told is that if you understand one state’s Medicaid system, you understand one state’s Medicaid system.

We have enlisted experts to help us map out when we need to start talking to Medicaid, what states to start with, who at the state we need to talk to, and what we need to present when. They are working backward from an estimated/hopeful FDA approval timeline. The goal is that if it will be at least two-to-three years to an FDA approval – then we want to use those two-three years wisely and start talking to people when we need to talk to so that we have a shot that as soon as the FDA approves drugs, payers are ready and can pay for them. This firm is graciously helping us pro bono.

Newborn Screen: As we have announced before – FAST, ASF and others are funding a newborn screen pilot program in North Carolina with RTI, led by Anne Wheeler. FAST has also engaged – with grants – i.e., money - the Wisconsin newborn screening lab, led by Dr. Mei Baker, and a study in New York, led by Dr. Wendy Cheung. Dr. Baker is working to perfect the diagnostic test (Methylation test) from a spot of dried blood on a card. For those who gave birth to their babies themselves – they will remember the heel prick on their newborn done while in the hospital. That prick and spot of dried blood is used to test for things, and we aim to get AS to be one of the things that is tested. We are hopeful that these will be ready to pilot in 3 or so years – assuming all goes well. Obviously, the most important piece of this is that when we have a working and approved therapeutic – babies will be screened for AS at birth and given the drugs right away – to potentially keep them from developing symptoms of AS. Also, screening every baby in a known population – like Wisconsin – will give us the true AS incidence rate. This will help payers understand how much – total – these drugs will cost over time. So many of our efforts have multiple uses. Newborn screen is one of them. And again – this is another place FAST dollars are being spent.

We are discussing all of these efforts with pharma partners who are in or close to clinical trials. If you are at a pharma in the AS space, reading this, and have not heard from me on this – please reach out if you are interested in helping us mold these efforts to help advance your drug in a pre-competitive space.

I also want to relay the kudos I have heard from our outside consultants. Our registry is gold. The ICD code is gold. (Our Healthcare Economics firm consultants told Terry Jo that they had never met anyone who had gone out and gotten their own ICD code, and they were starstruck.) The infrastructure we’ve put in place with the science is amazing, and I have heard more than once that FAST is being progressive to kickstart these important efforts. So, for all of the parents, Greg and I included, who have filled out endless registry forms, surveys, and participated in all of our pre-clinical studies – we are now reaping the fruit we have sown. All of this hard work is paying off! And I am SO proud of our community.

I am excited to be joining Alana on November 1 at 5 p.m. Eastern to discuss this topic and answer any questions to the best of my ability.

[1]List from; prices from internet searches