Jay Konduros participated in a gene therapy trial for hemophilia B at CHOP. He discusses his experience growing up with hemophilia and the constant fear of bleeds, injuries, and hospital visits. In 2015 he was offered the chance to participate in the gene therapy trial after decades of factor treatments. He underwent the gene therapy treatment in June 2016, which involved a single intravenous injection. Since then, his factor levels have remained around 40% and he has been bleed-free, experiencing simple pleasures like not being in pain or worrying about injuries. He remains cautiously optimistic but describes the results as "magical" compared to his life pre-treatment.

1. Patient Experience – The “Magic” of Gene
Therapy
Jay Konduros
Toronto, May 11th 2019

2. Patient Experience – The “Magic” of Gene Therapy
• Participant in CHOP’s Gene Therapy Trial for Hemophilia B using the Padua
factor IX gene. (SPK 9001 Trial)
• Talk will be in four sections:
• Background through the years with hemophilia (context for decision making)
• Modern events and decision to go on trial
• Treatment and trial experience
• Life since treatment

3. Patient Experience – The “Magic” of Gene Therapy
• Background Through the Years with Hemophilia
• Born in Montreal in 1964 as the youngest of 4 kids, one older brother with
hemophilia and moved to Toronto area at 9 years of age
• Very fortunate - generally normal childhood interspersed with injury episodes
• Childhood through early university days, out of school for a couple weeks at a
time twice per school year (1-2 month recovery)
• First memories pooled together - terror on seeing swellings grow out of
control, resulting immobility, the imminent missing of school, going to
hospital, embarrassment of sitting in a wheelchair, waiting for hours, doctors
squeezing and flexing the injury site, sights and smells of hospitals

4. Patient Experience – The “Magic” of Gene Therapy
• Background Through the Years with Hemophilia continued...
• Hid injuries for fear of being taken to the hospital until I was completely
immobilized (not a good idea but that’s what I did).
• Up to high school days, hospital visits were day long events split between
waiting to see doctors, hours long plasma drips, and struggle to/from Hospital
• Last few years going to children’s hospital the doctoring much improved and
treatment switched to factor concentrate - a great time improvement

5. Patient Experience – The “Magic” of Gene Therapy
• Background Through the Years with Hemophilia continued…
• Home self-treatment came into being around the time I entered university - a huge life
changer
• I could now treat myself in private very early on in a bleed
• From this period forward I missed many fewer days of school/work
• 1980’s happened, and my sense of freedom vanished into constant fear
• Coping mechanism was to completely deny the situation and bury my head deep in the sand
• Home treatment decisions became much harder
• Only treating major muscle bleeds, immobilizing and pampering any lesser injuries.
• This behavior continued for the good part of twenty years until recombinant factor IX
availability
• This again was a huge life changer, anxiety levels dropped immeasurably.
• Now felt free to properly treat injuries with total autonomy.

6. Patient Experience – The “Magic” of Gene Therapy
• Modern Events and Decision to go on Trial
• Severe leg injury in 2014, couldn’t control the bleed, spent 10 days in the
hospital
• One month on walker, one month on crutches, 3 months on a cane, and
another 3 months getting back to normal
• A big reminder that hemophilia is a very ugly disease and no matter how hard
I try to control it, it’s always there ready to pounce.
• Magic Happens Here:
• In 2015 Harvoni was offered as a cure for Hepatitis C acquired decades earlier

7. Patient Experience – The “Magic” of Gene Therapy
• Modern Events and Decision to go on Trial cont…
• Cleared that September, received a letter from Dr. Teitel in December
offering the opportunity of going on a gene therapy trial
• Aware of the concept of gene therapy for hemophilia but thought it was a far
off hope
• Appealed to me as the ultimate solution - on board factor IX production –
total freedom
• Immediate emotional response - absolutely I’m in
• Helping to kick this disease into the garbage pail of history too good to pass
up

8. Patient Experience – The “Magic” of Gene Therapy
• Modern Events and Decision to go on Trial cont…
• Started researching anything and everything to do with gene therapy
• Spring 2016, discussed specific CHOP trial with Dr. Teitel, did further research
on Dr. Katherine High and the CHOP trial, and ultimately met with Dr. George
• Comfort level very high seeing the professionalism, passion, and caution and
care being applied to this trial. Green lights all the way
• I felt I was going to be a part of something big

9. Patient Experience – The “Magic” of Gene Therapy
• Treatment and Trial Experience
• June 6th 2016 I was dosed with the gene therapy.
• To sum up in one line the actual gene therapy dosing procedure:
• “That’s it? Are you kidding me??”
• To have a disease for your whole life, then with one intravenous injection of a
clear liquid lasting an hour, you walk out of the hospital and leave your
hemophilia at the door. This is magical!

10. Patient Experience – The “Magic” of Gene Therapy
• Treatment and Trial Experience cont…
• The trial itself has been one of the most enjoyable experiences of my life, superbly
organized, respectful, accommodating, and fun
• Zero preparation, Zero side effects, zero limitations
• Blood draws done at my home, all expenses paid trips to Philadelphia!
• My personal hope for this therapy was a factor level rise to 5 or even 10 percent
• Enough to stop the surprise “gotcha” bleeds and allow for far fewer bleeding
episodes with quicker recovery times.

11. Patient Experience – The “Magic” of Gene Therapy
• Life Since Treatment
• What I have experienced in the last almost 3 years is a factor level hovering
around 40% and no bleeds at all, and nothing coming close to bleed.
• Still get panicky if I have just hurt myself and a fear washes over me
• Need to consciously repeat to myself – “my factor is 40%, I’ll be OK”
• Simple pleasures – Not being stiff in mornings, no limping and pain getting off
airplanes or out of movie theatres, not worrying about how far away my
fridge is, not having to bring treatments with me on out of town trips

12. Patient Experience – The “Magic” of Gene Therapy
• Life Since Treatment cont…
• still in too good to be true mode but for now fear of future has gone way
down
• Describing to someone without hemophilia the excitement and magic of
seeing injuries just disappear in few hours is anticlimactic –
• Blank stares and a drawn out “oohhhkay aaaand”
• The most fun is comparing notes with fellow trial participant and brother who
understands fully - the resulting magic of gene therapy.

13. Thank you