Week One - Lucas Clinical Trial Update

The day the Passage Bio clinical trial opened (began recruitment) back in January, we submitted Lucas' name. We didn't hear much for a little while until mid to late February when I was asked to provide a release of records to St. Peter's Hospital in New Brunswick, New Jersey, which was the first site open and ready to go. (There will eventually be multiple sites around the world that will run the Passage Bio Trial)

Invitation March 5 - Got a call from Dr. Day-Salvatore to inform me that she had selected Lucas to be officially assessed as possibly the first candidate for the Passage Bio - PBGM01 clinical trial for Gene Therapy.  Said we would hopefully - likely - come out to New Jersey by the end of the month. 

Plan March 8 - Signed travel consent paperwork and when speaking with the clinical research nurse, Daniela, she asked me if we planned to come next week. That seemed sudden, but then I realized that spring break was the following week and that actually might work best for our family. 

Preparation March 9-11 - Got everything ready to be gone for 6 1/2 weeks - instructions for my children, letting everybody know, packing, travel arrangements with Clincierge and figuring out who should go etc. Brad decided to come with me for the first week while our respite providers were off of work because of spring break (their day jobs are with the school district). So they graciously got all set up to stay with Evan and Laya on a rotational basis for the week. 

Travel March 12-13 Travel from Tucson to Phoenix and then New Jersey - Lucas had a nap on the plane and was remarkably much better than we anticipated. Got our rental car and drove to our hotel in New Brunswick, NJ. The hotel room has two bedrooms and a kitchen which is super nice for us. 

Covid Testing 3/15 All three of us got tested for Covid 19 - we were all clear to go. Lucas didn't enjoy the nasal test at all, but he did well with the blood test (to see if we had Covid anti-bodies from previous exposure).  

3/16 - Had to wait a day for Covid results

Consents 3/17 - Officially Day -14. The screening process leading up to the gene therapy day is set to happen over two weeks or 14 days. Day 1 will be the procedure day. All the tests are to get a baseline for Lucas' overall health and to make sure there is nothing that would prevent him from moving forward with the trial. He is healthy, so we don't anticipate any problems. We went over all the consent forms and description of the clinical trial in detail with Dr. Debra-Lynn Day Salvatore. She will be Lucas' doctor who is taking point on everything regarding this trial over the next 5 years. She is a wealth of knowledge and experience...such an expert. We are in good hands. We signed all the forms. Lucas was a bit of a handful during this meeting and actually we only did about half of it before going back to the hotel for a nap and then coming back later that day to finish the rest of it. 

Dr. Debra-Lynn Day-Salvatore - Director of Genetics and Genomic Medicine at St. Peter's University Hospital

3/18 Day -13 

Labs/Blood Work Morning started with Labs and Urinalysis for Lucas - they are checking his overall health and enzyme levels of beta galactosidase activity. 

Neurology We then saw Dr. Carlos Lastra - he asked us a general history of health and milestones for him and then did an examination. He was very good with Lucas and able to do an overall physical checkup. He summarized his findings by telling us that he didn't see any Neurological decline or issues at this point which is important to keep in mind as his baseline, to refer back to over the course of the study. It will be interesting to see if the MRI shows any delayed myelination of the white matter of the brain at his age. Eli and Evan showed delayed myelination at age 2. 

Dr. Carlos Lastra - Director Division of Pediatric Neurology at St. Peter's University Hospital

We came back to the hotel for nap time. All three of us had had pretty rocky sleep the past week, so we were all grateful to have a much needed nap and were ready to come back to St. Peter's later that afternoon.

Genetics Physical/History Dr. Day-Salvatore then did a physical evaluation of Lucas as well. Lucas was again, very cooperative. He seems to like the hands on connection and just stares at what they are doing with curiosity. She then did a thorough, yet general questioning to me about his health history. She asked me a lot of questions about any symptoms or issues he could have possibly had. 

3/19 Day -12

Abdominal Ultrasound Began the day with an abdominal ultrasound - looking at and measuring the liver, spleen, kidneys etc. At first, Lucas was amazing, he laid flat on his back and allowed the lady to use the ultrasound handle and gel on his stomach, just looking around, but once it stretched out to 10 minutes or so, he was done cooperating. Luckily the lady was nice and said he could stand up, sit or be in whatever position and she would just try to finish. Once we stopped trying to hold him down, he did better, but fought through the last few minutes. It's really not a big deal though, I mean, he usually fusses when I change his diaper 5 times a day! That's just being a toddler! 

Spinal X-Ray Then we headed over to X-ray for a look at his spine - this went very quickly and surprisingly well with three people helping to hold him still. We got the image they wanted (a side few of straight spine) on the first shot!

Family Tree/Video Capture/Seizure Journal Later that day, we did a family tree with one of the geneticists who is an expert in Lysosomal Storage Disorders, I received training on the video capture program I'll be doing with Lucas every 3 months and the seizure journal I will need to keep on a daily basis. 

3/20 Day -11

Brad headed home to go be with Laya and Evan and relieve Jasmine and Christina - who have been caring for them. Thank you Jasmine and Christina, you are life savers! 

I know Brad wishes he could stay and be here with us. We will miss him. It was so great having him for the first week, Lucas loved it!! But of course he needs to work and be home for the other kids. Brad's Mom is coming to Tucson tomorrow to help for the remainder of the time I am away. She is an angel!

I miss Laya and Evan so much already, but we are here for Lucas. This treatment could be great for him...it's possible, so why not give it a shot. We are very lucky to have this opportunity. Even if it doesn't benefit him, it will for sure help other children with GM1. Nevertheless, we are hoping it will make his life better!

I'll continue to keep you posted on how everything goes.