Path to a Cure
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A Therapy for PCH2 by 2030!

To date, families still hear the sentence “Unfortunately we can’t do anything for your child” when they receive the diagnosis. Changing this is the goal of PCH2cure. Our vision is to develop a therapy for PCH2 by 2030.

Therapy Development – A Long Path

Where do we stand?

The genetic cause of the disease is now precisely known and we know the difficulties that PCH2 children face in everyday life. 

However, it is still largely unclear why and by which mechanisms symptoms develop in the body. This, together with other important characteristics, such as a precise description of the natural history of the disease or an animal model, is a fundamental prerequisite for finding possible active substances against the disease in order to develop a therapy.

Where We Stand on the Path to a Medication

Basic Understanding of the Disease

genetic defect

molecular and cellular mechanisms



(Animal) Model

cerebellar organoids

animal model(s) 

target identification


Description of the Natural History of the Disease 

natural history study

identification of possible endpoints for clinical studies

therapeutic window for possible treatment options


Active Substance Identification

gene therapy

gene editing


drug repurposing


(Pre-)Clinical Testing of the Active Substance

testing of potential active substances on models to verify safety and efficacy

Clinical Study With PCH2 Children


Market Authorization of a Therapy After Successful Clinical Trials


Not yet begun


Resulsts available

Your Financial Support Will Help Us Develop a Therapy!

We need the support of donors to advance PCH2cure’s research efforts. The more funding we can raise, the faster treatment options will be available.

Forscherin blickt auf Reagenzglas, welches sie mit einer blau behandschuten Hand hoch vor ihr Gesicht hält.

We Need Further Support From Researchers

So far, our research has focused on understanding the natural history of the disease and the underlying cause at the cellular level. For the latest information on the state of research, please refer to the Research Activity section.

You Would Like to Support Our Research Activities? Our Work Packages

We are seeking supporters and contributors for the next steps and open work packages, which focus on developing possible therapies. 

It is possible nowadays to use gene therapy to correct the defect in a genetic disease such as PCH2. In the case of PCH2, only one amino acid would need to be exchanged to eliminate the genetic defect. Gene editing or vector-based gene therapy are promising approaches, some of which have already been approved as drugs on the market. 

We are seeking researchers and clinicians with experience in gene therapy development.

If you have experience in this field and are interested in an exciting collaboration with PCH2cure, please get in touch with us.