My name is Oliver Gross.
I am a senior physician at the University Medical Center in Göttingen
and I designed and led the BMBF-funded Early PRO-TECT Alport study.
Alport syndrome is a rare and hereditary disease.
A rare disease means that only one in 5000 children is affected.
But this means that in Germany approximately 1000 children
and adolescents are affected by Alport syndrome.
My patient represents the classic situation of many Alport families:
there is a young child in the family and at the same time close relatives,
so in this example, two brothers, who are seriously ill with kidney disease.
The patient wonders what her children's fate will be.
20 years ago we were still in the situation
where we could make an early genetic diagnosis,
but could only tell the families:
"Ten years from now, we'll meet again for dialysis."
As a result of the study, we are in a new situation where early genetic diagnosis
serves a completely different purpose, namely to enable early therapy.
Alport syndrome has been in my family
for generations.
My older brother started dialysis at the age of 15,
then unfortunately later, when it was no longer enough,
had a brain hemorrhage.
We hope that our children
won't have the same problems in the future.
Alport syndrome is a type IV collagen disease.
IV collagen is connective tissue.
This connective tissue is needed in the kidney, in places
where particularly strong mechanical stability is required,
namely the filtration units.
Here, in both pictures, the scar tissue of the kidney is marked in color.
On the left is a treated kidney without this green scar tissue
and on the right is a completely scarred kidney, from which we can see
that this kidney is no longer functioning.
The study looked at Ramipril as a medication.
Ramipril is a blood pressure medication approved for adults
which also has organ-protective properties for the kidneys.
Ramipril has not yet been tested in children.
Conducting clinical trials in children or for rare diseases
requires a highly dedicated team, such as clinical team, the doctors
and the nursing staff, the clinical trial nurses,
and the coordination and the integration.
The work of bringing all of this together, that is my job.
Data security and data quality and especially data management is crucial
in a clinical trial, because the goal is to achieve
high levels of evidence.
And to do that, it has to be very clear which data should be collected and how.
We have achieved this by working closely
with the centers and the centers working closely with us.
As a result of the BMBF-funded study, it has now been possible
to rewrite the international therapy guidelines,
so that children as young as two, at a very early stage of the disease,
can be treated.
As a result of the study, we are now working on three other
very important projects.
The first project is to establish Germany-wide guidelines
to ensure that children are diagnosed
and treated from the early stage.
The second is to continue to monitor all children with Alport syndrome worldwide
in the early stages to further improve
the state of evidence.
The third is that we are currently planning another study
with a drug that has already been approved,
but only for other kidney diseases,
and we want to be able to improve the therapy with Ramipril.
For families with Alport syndrome, the successful
Early PRO-TECT Alport trial
signifies great hope and a chance for the future.
Early diagnosis ensures that pediatric nephrologists
can provide early therapy
to change the fate of patients for the better.