Transcript Developing a cure for Black Bone Disease

An Update on
AKU Science
Hana Ayoob
Clinical Trials Coordinator
1. Overview of AKU
2. How nitisinone works
3. SONIA 1 results
4. SONIA 2
1. Overview of AKU
How AKU is inherited
Why HGA is so damaging
A brief introduction to genetics
Genes are
recipes
On how to
make proteins
Some proteins
are enzymes
Enzymes break
down or
combine
substances to
create news
ones
What happens when things go wrong?
A mutated
gene
Damaged
protein
Enzymes
don’t work
properly
Certain
substances
aren’t
broken down
or created
How is the mutated gene inherited?
MUM
25%
M
D
CARRIER
DAD
25%
M
D
CARRIER
25%
M
D
NON-CARRIER
25%
M
AKU
D
What does the enzyme normally do?
Protein
Phenylalanine
Tyrosine
Hydroxylphenylpyruvic acid
Homogentisic acid
Maleylacetoacetic acid
Carbon dioxide and water
Why is HGA so damaging?
Cartilage
2000 times
normal rate
Black
pigment
Heart
Stones
2. Nitisinone
How nitisinone works
Research
Off label use
How does nitisinone work?
Protein
Phenylalanine
Tyrosine
Hydroxylphenylpyruvic acid
Homogentisic acid
Maleylacetoacetic acid
Carbon dioxide and water
Animal research
Mice had reduced HGA and
less pigmentation
Early enough – no signs of
AKU
Research in humans
Nitisinone reduces
HGA by up to 95%
Off label use
•Drug for A used in B
•Patients’ best interests
•Greater legal responsibility
•Funding restrictions
Why is off label use not enough?
•Varies between countries
•Unreliable
•Health budgets tightening
•Need better understanding of how AKU and
nitisinone interact
3. SONIA 1
4 weeks
2 test
centres
40
patients
0mg
1mg
2mg
4mg
8mg
0mg
1mg
2mg
4mg
8mg
12%
5%
2%
1%
No serious side effects
“I really enjoyed being a part of the
project. I found the research interesting
and I am looking forward to seeing the
results when they are ready. The staff at
the hospital and the AKU Society were
really nice and helpful…SONIA 1 was
also the first opportunity I’ve had to
meet other AKU patients. It was lovely to
chat about things such as pain relief.”
4. SONIA 2
4 years
3 test
centres
140
patients
Nitisinone
70
No nitisinone
70
Thank you for
listening
Any questions?