What is a Natural History Study?
The aim of a natural history study (NHS) is to understand the course of the disease better:
How does it change over time as the patient ages? Does it improve or get worse?
Can we identify markers that predict how the disease will develop?
What is the link between the site of mutation and symptoms?
How similar are AGO1/2 syndromes?
A high level of patient participation is essential to get a representative picture. Every single patient experience counts. This is THE most important thing you can do today to help your child.
The AGO1/2 NHS is led and sponsored by Prof. Lessel at University Hospital Salzburg. If you want to take part, please email Dr. Olena Ielesicheva. She will send you the questionnaire.
The questionnaire is currently only available in English. Please use e.g. deepl.com to translate it and contact Dr. Ielesicheva in case of doubt.
Why does it matter?
With an NHS, we can
identify research needs,
connect with patients,
inform drug development,
develop standards of care,
potentially replace a placebo arm in a clinical trial (like Progeria Research Foundation).
The last point is crucial for rare diseases with small patient populations. It means that everyone in the study can receive the treatment, and no one receives a placebo - while still being able to measure whether the drug works!!
Questions
Do you have additional questions? Please reach out to Dr. Ielesicheva or us!