Foundation

The Cystinosis Foundation Germany is known as the „Cystinose Stiftung“. It is a legally capable Foundation of Civil Law and is based in Munich, Germany.

Motivation
Infantile nephropathic cystinosis is a very rare metabolic disease in which cystine is stored in almost all organs. Functional failures occur with increasing age and affect the kidneys and eyes, followed by the musculoskeletal system, the endocrine organs, and the central nervous system. Unfortunately, on the example of people suffering from cystinosis, experiences have shown that patients with such rare diseases – whether children or adults – have few advocates in health policy and in medical care. This is one of the reasons why patients with rare diseases are often referred to as “orphans of medicine”. In order to ensure long-term support for this patient group, the „Cystinose Stiftung“ was founded in 2015 in cooperation with the Cystinosis patient support group „leben-eben“.

Ambition
Our ambition is to directly support patients and their families in daily life, to improve clinical care and to support research projects that influence the clinical course of cystinosis.

Purpose of the Foundation
The Foundation pursues exclusively and directly for charitable purposes. The purpose of the Foundation is to promote science and research, public health and public health care, education and vocational training.

Organization

Advocate and supporter:
Mrs. Melanie Huml (Bavarian Minister of Health)

Board:
Mrs. Sonja Froschauer (1st Board of Directors)
Mr. Dr. Arne Everts (2nd Board of Directors)

Patient Advisory Board:
The Patient Advisory Board is provided by parents as well as patients with cystinosis. It is yet to be established.

Foundation Board:

Prof. Helmut Hintner

Emeritus Director of Dermatology Salzburg (Austria). Prof. Hintner has established a facility in Salzburg for patients with “butterfly disease”. He continues to work on improving the care of rare disease patients and is also active in the advisory bodies of the National Action Plan for People with Rare Diseases (NAMSE) in Brussels.

Mrs. PD Dr. Katharina Hohenfellner

Head of Pediatric Nephrology at the Children’s Hospital in Rosenheim.
Together with the self-help group „Leben-eben“ and Prof. Harms, she established the „interdisciplinary cystinosis clinic“ for these patients and supports the foundation and its projects.

Mr. Alexander Huber

Professional mountaineer. He supports the foundation with his person/brand.

Mrs. Dr. Uta Nennstiel-Ratzel

President of the German Society for Newborn Screening. She works in the Bavarian State Office for Health and Food Safety and is responsible for health reporting, epidemiology, social medicine, child health and for the screening center.

Mrs. Ulrike Treikauskas

Ms. Treikauskas is a pediatrician and is currently finishing her training in pediatric nephrology. She is also involved in the cystinosis clinic as well as in the different projects.