I realize it has been quite some time since I posted. But there has been a lot going on in the background, and we are so excited to FINALLY share some really BIG news!
I promise I will post a more formal update on Blaise’s progress since last November. He really has been working hard at therapies and has come a very long way since my last post! BUT, the big news is… BLAISE STARTED AN INVESTIGATIONAL NEW DRUG!!!!
So the back story….we have been in contact with a drug company called Applied Therapeutics since February 2020, shortly after Blaise’s diagnosis. If you recall- my way of coping with the diagnosis was reaching out to family support networks, and Carl’s was digging into the scientific literature to see what the options were available for treatment. So in his research, Carl found an article that a drug class called aldose reductase inhibitors (ARIs) showed improvements in PMM2 in worm and yeast models. (Insert Pharmacist Education Session- how do ARIs theoretically work in PMM2-CDG?! ARIs are thought to increase the PMM2 enzyme activity.) His research then continued and he found Applied Therapeutics, who was utilizing an ARI which they call AT-007 to treat another rare disease called galactosemia. We reached out to the company to inquire if they had any plans to expand their use to PMM2-CDG. I suppose the rest is history.
Fast forward to early 2021, when Applied Therapeutics and Blaise’s geneticist at UNC agreed to take on the challenge of submitting for a single patient compassionate use IND (investigational new drug). For those who do not know this terminology, the FDA will occasionally grant compassionate use IND for patients with a disease or other life threatening condition that has no known treatment or for which all existing treatment options have been exhausted. Consider it the FDA Hail Mary 😉 If the IND is granted, the patient can receive an investigational new drug (sometimes it is FDA approved in another condition, or it might not be FDA approved at all) in a clinical trial type format. However, submitting for this is no easy task- it takes an enormous amount of time and effort to get to actually starting an investigational drug trial.
However, after an incredible amount of hard work and collaboration, ups and downs, we are thrilled to share that Blaise received his first dose of AT-007 last week! He is the first person with PMM2-CDG to receive this drug. Although Blaise received his first dose, we are in a dose escalation phase. We will start at a very low dose and gradually increase over several months to the full dose. This gradual escalation is to ensure there are not liver side effects, as Blaise (like many with PMM2-CDG) presents with some baseline liver abnormalities. So we do not expect therapeutic benefit from the drug for a few more months. Also, both my mama AND pharmacist cup were full when I got to mix the medication and give it to him! Luckily it wasn’t too complicated- just an oral liquid suspension!
We cannot thank Applied Therapeutics and Blaise’s genetic team at UNC enough for all of their collaboration and hard work to make this happen. It has been quite the journey for all! We are also incredibly grateful for all of the prayers and good vibes that we have received from family and friends. Please don’t stop now! We have 12-15 months on this journey. But we are honored and blessed to be a part of this little piece of history. Most importantly, we are very excited to see where this journey leads and opportunities it might create for others with PMM2-CDG and their families.Â
If you would like to read more about Applied Therapeutics commitment to PMM2-CDG, click here: https://www.appliedtherapeutics.com/patients…/pmm2-cdg/ (also…there is a patient video posted there with a few folks you might recognize!)
If you have any questions or would like to contact Applied Therapeutics for more information, please email [email protected]
