Guest Post: Room for optimism in ALS research

Conversations and healthy debate about issues facing our industry and the health care system are critical to addressing some of today’s challenges and opportunities. The Catalyst welcomes guest contributors, including patients, stakeholders, innovators and others, to share their perspectives and point of view. Views represented here may not be those of PhRMA, though they are no less key to a healthy dialogue on issues in health care today.

We are pleased to host a Q&A with Rob Goldstein, vice president of marketing, communications and development for the ALS Therapy Development Institute to discuss treating rare diseases such as ALS.

How are the challenges facing the rare disease community unique in comparison to those facing people with more prevalent illnesses?

Every 90 minutes someone in the United States is diagnosed with ALS. They are told by their neurologist that there is no treatment, no cure. For many others diagnosed with a rare disease, the message is sadly the same. And it is incomprehensible to the person diagnosed, their families, their friends, their coworkers that given all the advancements made today in medicine that so many rare disorders without even modestly effective treatments.

Beyond the lack of treatments, people with rare diseases face stigma every day and are often put in situations to explain what their disease is constantly. Since a community based physician or nurse may only see one case of a given rare disease in their career, the person living with it, and their family members, end up educating doctors and allied health professionals about the disease. I think those that have never had to face a rare disease themselves or in a loved one would be surprised to know just how much of this reverse role situation goes among those living with and treating rare diseases such as ALS.

Given the theme of this year's Rare Disease Day is research, is there any specific research currently underway into new medicines for people with rare diseases that you're particularly excited about?

Today is the most hopeful time in ALS research, without a doubt with a lot of things to watch for in 2017. There is a potential treatment called edaravone right now before the FDA, and a pivotal clinical trial on another exciting promising treatment, tirasemtiv, will read out before the end of this year. There is a rich pipeline of drugs in Phase 2 behind those, including an innovative antisense oligonucleotide, among many others. These programs give me hope and should give everyone with ALS today hope that we could soon be living in a world where there are now ALS treatments approved and available for consideration by patients.

The other exciting research that folks likely have no idea about is the application of Precision Medicine techniques in ALS. We have enrolled in our own program more than 400 people from every US state and 9 different countries to date. And the best part about this program, we put the patient first – giving them access to all of their data in real time online, including letting them know where their samples are in the process of gene sequencing, cell development, etc. While we leverage the data they provide to identify subtypes of ALS and screen potential treatments for each, we believe that providing research study participants back data produced is not only the right thing to do, but also improves the likelihood that they will continue to provide crucial on-going data about their disease progression. This approach is the most exciting thing I think happening in ALS research today and anyone with ALS can participate online – no visits to clinics required! I am so proud of the scientists at ALS TDI for breaking serious ground in applying Precision Medicine techniques in such an open and collaborative way.

Are there any examples of progress in the fight against rare diseases in recent years that have inspired you in your work?

I am inspired every day by the example set by Dr. Beall and the Cystic Fibrosis Foundation. I was born the year that Bob started working at the CF Foundation and I had the privilege of having him on a panel discussion I moderated, in which he spoke to the ALS community about how the CF community “did it” with Kalyadaco. I think there is a real model of nonprofit organizational innovation, community leadership and personal dedication that can be learned from Bob and the whole CF Foundation’s model itself.

I am also inspired by the advanced in the battle against Spinal Muscular Atrophy and Duchene Muscular Dystrophy.  I have worked closely with biotech/pharma leaders as well as nonprofits in both those fields for more than a decade and seeing their excitement following the approval of treatments for those disease gives me so much inspiration and hope that we will see it in ALS and all rare diseases!

What do you want people to know about people with rare diseases and the challenges they face?

Rare disease is not rare if it is in your home. Any one of us could very quickly find ourselves going home to a rare disease.  Rare diseases impact people of all ages, all backgrounds, in all parts of the world. Just because a disease is rare doesn’t make it okay that the support those living with it or those working to develop treatments for it is equally rare. There are so many different ways that everyone can show their support for the battle against rare disease and I would encourage them to do so.