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You Are Not Alone! There Are Families With PCH2 Children All Over the World.

When you receive the diagnosis of PCH2, your world turns upside down. Nothing is as it was planned and it may feel like all support was taken away from you. Thousands of questions and uncertainties will appear. In addition to caring for child with a disability, you will have to deal with feelings of overload, anger, sadness, desperation, as well as many organizational issues.

The aim of PCH2cure is to provide information, guidance and support.

There are many PCH2 families who, despite all the challenges, achieve a good quality of life for the PCH2 children, their siblings and parents. This website is intended to help your family succeed in doing the same.

This is the right place for everyone who:

  • has just been diagnosed with PCH2
  • already has an older child with PCH2
  • is looking for information, help or ways to connect

Treatment Is Possible. Support Our Research With a Donation.

Please support the work of PCH2cure with your donation. The more funds we raise, the faster we can progress on the path to a cure.

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


These Pages Contain Resources That Will Bring You Closer to Other Families

Life Hacks

Here you will find tips and tricks for dealing with the challenges of living with PCH2.

Life Hacks

News & Events

Here you will find the latest news from the world of PCH2 as well as event information related to the disease and the research into it.

News & Events