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?
Why does it matter?
With this study, 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!!
Join the study
This is THE most important thing you can do today to help your child.
A high level of patient participation is essential to get a representative picture. Every single patient experience counts.
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.
The questionnaire is currently available in English, German, Spanish and Italian. Please use e.g. deepl.com to translate it into other languages and contact Dr. Ielesicheva in case of doubt.
Epilepsy deep-dive
Prof. Piton leads a follow-up study on epilepsy, which affects ~50% of AGO children. This will help to understand the different types and whether this could be used as a diagnostic tool or to study effects of future treatments.
You can participate by sending information from the clinical reports of the consultations with child neurologists, and indicate any anti-seizure medication.
Please send a physical copy to the address below or contact Dr. Sarah Baer or Dr. Amélie Piton for more information (sarah.baer@chru-strasbourg.fr - apiton@unistra.fr). You can mask the child’s name in the report, except the first 3 letters.
Sarah Baer/Amelie Piton
IGBMC
1 rue Laurent Fries
67 400 illkirch
France
Confused? Additional questions?
Please reach out to Dr. Ielesicheva or us!