We didn’t realize research was going on right now for the particular form of NCL that Philip and Joyanna have, but researchers have been able to identify and reproduce the enzyme that their bodies are not able to produce due to their genetic disease. I can’t say that we understand all of the research but I am going to try to explain in plain English what the treatment entails. Here is part of a letter that was sent to us about the new drug and how it is administered: Cerliponase alfa (BMN 190) is a recombinant human tripeptidyl peptidase 1 (rhTPP1). Cerliponase alfa is BioMarin’s investigational agent, administered via intracerebroventricular (ICV) delivery, for the treatment of patients with neuronal ceroid lipofuscinosis type 2 (CLN2) disease or TPP1 deficiency.
From the prior sentence I am confident you now understand just about everything about the drug!!! Basically, the company developing this enzyme (BioMarin) has already conducted safety trials on this new treatment and is currently in the process of an efficacy study. The only location in the United States that is approved for this study is Nationwide Children’s Hospital in Columbus, OH. The drug is provided free of charge to individuals who qualify, but they need to travel to Columbus every 2 weeks for a 4-hour treatment. They have already been able to determine that the drug is not dangerous; the goal of this study is to find out how successful the drug is at halting the downward progression of NCL. The drug is administered directly into the fluid that surrounds the brain through a port/shunt in the skull. The enzyme is then absorbed into the brain, allowing the brain cells to begin functioning relatively normally again.
Initial indications seem to show that the drug will not reverse the damage already done to the brain due to NCL, but it may stop its progression. Their hope is that if the drug can stop the progression, then over time the brain will be able to reprogram itself and heal the damaged areas—much like the brain is able to do if someone has had other types of brain injuries. What the results will be long term is unknown, but some of the results they have seen so far is a reduction in the number of seizures, increased mental ability (probably due to reducing some seizure meds), and a slowing or ceasing of the regression caused by the disease.
What does all this mean for us? First, from what we understand, Philip would not qualify for this type of treatment. Because he has already regressed so far neurologically, this treatment would not have a real benefit for him. While it is difficult to see where Philip is at this time, we have a hope and confidence of Heaven and look forward to seeing him again there, when he will not be trapped in his current body—we don’t know when that will be, but trust in God’s timing. However, for Joyanna it is a different story. She is continuing to regress, but not as quickly as Philip; she is still able to walk, talk, and communicate reasonably well. We are very interested in this treatment for her. We were given the option this past summer of participating in this efficacy study, which started in September; but, as we prayed about it, looked at the logistics of going to Columbus every 2 weeks, and looked at how it would affect our family as a whole, we decided it would not be the right choice to enroll her in the efficacy study.
In July I had a conversation with the main doctor in charge of the study at Nationwide Children’s in Columbus, and also had a conversation with a representative from the pharmaceutical company. They had already submitted paperwork to the FDA for a compassionate use approval for the drug. The FDA ‘compassionate use’ program is the means by which the FDA sometimes approves controlled use of certain ‘ground-breaking’ drugs for fast-acting illnesses that have no other treatment. Several days ago I was notified that the FDA has approved compassionate use of the drug, but only at Nationwide Children’s in Columbus. It will not be available for use at other facilities until it is officially approved as a regular treatment by the FDA. Due to the quickly debilitating nature of NCL in young children, it is possible that the FDA will look at approval of this new treatment sooner than it would some other drugs, but that is still not likely to happen at least until mid-2017.
The pharmaceutical company that is providing the drug has a working relationship with our geneticist and is currently working with him on some other drug trials and OU Children’s Hospital here in OKC already has an infusion clinic that we understand would be capable of administering the drug. This means that once the FDA approves the drug for use in locations other than Columbus, we could potentially be able to start treatment pretty quickly here in OKC. God has not given Becca and I any indication that we are to uproot our family and move to OH for treatment, nor do we think that taking 3 days every other week to seek treatment in Columbus is a workable solution for our family at this point. Part of this decision is based on the knowledge that the current treatment program in Columbus would require a commitment of several years—it wouldn’t be an option to get treatment there for a couple months and then switch to OKC for treatment when it becomes available. I give all this information to seek your prayers on our behalf that God would see fit to allow this treatment to become a possibility. Here is how we are currently praying in relation to this potential new treatment:
- The current study underway in Columbus will continue to go well and they will get the needed data for the FDA to approve this drug for use in other areas of the country.
- The FDA approval process will be completed sooner than mid-2017—their earliest expectation.
- That Joyanna will continue to maintain sufficient mental and physical ability to qualify for treatment once the drug does become available.
- If we decide to go this route, that the surgery to place the port/shunt necessary for administration of the drug would go fine.
- God would give Becca and I wisdom regarding if and when to move forward in seeking this treatment for Joyanna.
Thanks for reading this lengthy explanation and feel free to ask us if you have any questions—we may or may not have answers!