Understanding PCH2, Finding Therapies & Improving Quality of Life

Pontocerebellar hypoplasia type 2 (PCH2) is an extremely rare genetic disease for which no treatment is yet available. Children with PCH2 need a lot of support from their family, friends, medical and educational professionals and researchers. Here, PCH2 families and individuals from these groups can find valuable resources on life with PCH2 as well as the latest developments in research.

Get to Know Us

Loading allows data to be transferred on YouTube. Read more in the Privacy Policy.

The Knowledge and Exchange Platform for PCH2

“Your child has PCH2” – families all over the world are still facing this diagnosis and the associated worries and questions alone. The people around them are often overwhelmed because virtually nobody is familiar with the condition. PCH2cure is changing this, aiming to be the international knowledge and exchange platform for PCH2.

The purpose of PCH2cure is to build a worldwide network that brings together as many people as possible who are directly or indirectly affected by the disease.

Researcher looks at test tube, which she holds up in front of her face with a blue gloved hand.

PCH2cure Aims to Develop a Therapy for PCH2 by 2030

It will take the broad support of many to make this a reality: families who want to share their story and contribute their experiences; healthcare professionals who work with PCH2 children and are interested in finding effective therapies for their patients; researchers who want to work within the PCH Research Network on therapy development and have an interest in uncovering as yet unknown disease mechanisms.

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.

Decades of Parental Experience Combined With Leading Specialist Expertise

At the suggestion of PCH families, the patient-driven research consortium PCH2cure was formed in 2019 with founding members from the German universities of Freiburg and Tübingen. This laid the foundation towards a comprehensive understanding of the disease and therapy development. With the global financial support of PCH2cure research activities through the Chan Zuckerberg Initiative and the Eva Luise Köhler Research Award for rare diseases, our efforts and our scientific network have been recognized internationally.

PCH-Familie e. V. PontoCerebelläre Hypoplasie 
und die Abbildung einer Libelle.
Logo Chan Zuckerberg Initiative
Universitätsklinikum Freiburg Logo
KIT Karlsruhe Insitute of Technology
Eberhard Karls Universität Tübingen Logo

Continue Here:

For Families

Stories from families with PCH2 children and advice on how to improve the lives of children with the disease and their families can be found here:

For Healthcare Professionals

Detailed information on the disease and networking opportunities can be found here:

For Researchers

An overview of current and planned research activities relating to PCH2 as well as networking opportunities can be found here:

For Anyone Interested

The backstory of PCH2cure and the team behind it as well as details on how to support us financially or otherwise can be found here:

News & Updates About the Disease and Our Network