Cystinosis is a rare disease, but we can make our voice heard and help our families to a better life.
Cystinosis Support Network Europe (CNE) is an umbrella grouping of patient support, advocacy and research organisations in Europe and beyond. The group originally came together to provide informal peer support and to organise a family and research conference every two years in Europe. In recent years the network has become more active and taken a leadership role in various contacts with researchers and members of the healthcare industry developing therapies and treatments for cystinosis. In 2019 the group decided to formalise and establish itself as a registered charity.
What is Cystinosis?
Cystinosis is a rare, genetic disease, which is mostly diagnosed early in childhood, usually before the age of two. It is autosomal recessive, which means that it is inherited when a child receives two copies of an abnormal gene, one copy from each parent. Because the parents each have only one abnormal gene, they are not affected.
It is estimated that cystinosis occurs in somewhere between 1 in 100,000 to 1 in 200,000 live births. There are 10 to 15 new cases of cystinosis diagnosed each year in Europe.
For people with cystinosis, there is an increase in an amino acid called cystine in every cell of the body. This build up causes cystine crystals to form in many organs of the body. These crystals are noticed first in the kidneys and the eyes. As the disease progresses complications can occur in muscles, pancreas, thyroid gland and in other parts of the body.
There is a specific treatment for Cystinosis, but there is no cure. Children with cystinosis are experiencing much better outcomes and many young adults are living happy and active lives. But we still have a long way to go until we get to a cure.
More detailed information has been developed by Cystinose Groep Nederland. This brochure was created as a collaborative effort between Dutch Cystinosis Group (member of VKS: Adults, Children and Metabolic Diseases), the Collaborative Association of Parent and Patient Organisations (VSOP) and the Dutch College of General Practitioners (NHG).
What We Do
Conference
The CNE hosts an an international conference every two years. The CNE hosts an international conference every two years.
The 2022 conference was held in Leuven, Belgium from 7-10 July. In 2020 we went virtual! You can see details here.
We are delighted that the 2024 conference will be hosted by our colleagues in the United Kingdom. You can find details on our conference page.
Community Advisory Board
Based on the EuroCAB principles developed by EURORDIS (the European Rare Disorders Organisation), CNE has developed a Community Advisory Board. This allows our member organisations to interact in a structured and transparent way with treatment developers to ensure patients are consulted as patient investigators in the development of treatments and therapies that will have an impact on their lives. You can find out more here.
Our ongoing work includes
Connecting
We are an all volunteer, non-profit organisation
We meet on a regular basis to exchange and discuss achievements and unsolved problems that have an impact on the whole community
We encourage new research projects
We connect patient groups and researcher networks
Supporting
We help families all over Europe to get contact with other families and clinics
We inform patients and parents the condition and what is going on in the “world of Cystinosis”
We support patients’ and researchers’ projects (e.g. the development of international guidelines for treating cystinosis
We are active in developing best practice guideline in the transition for teens and young adults from paediatric care settings
Who We Are
Our Members
CNE is delighted to have a member organisations from Europe and some further afield:
· Asociación Cistinosis España www.grupocistinosis.org
· Associazione Cistinosi, Italy www.cistinosi.it
· Cystinosis Foundation UK www.cystinosis.org.uk
· Cystinosis Ireland www.cystinosis.ie
· Cystinose-Selbsthilfe e.V., Germany www.cystinose-selbsthilfe.de
· Dutch and Flemish Cystinosis Group www.cystinose.nl
· Cystinosis Foundation South Africa www.cystinosis.co.za
· Cystinosis Research Network www.cystinosis.org
· Cystinosis support Australia www.cystinosis.com.au
· Cystinosis support group Turkey
· Mexican Association of Cystinosis www.cistinosis.org.mx
· Vaincre les Maladies Lysosomale (VML-France) www.vml-asso.org
Our Partners
Patients all over Europe living in countries not yet having a national cystinosis support group
EURORDIS – Rare diseases Europe
FEDERG – Fed. of Europ. Associations of patients affected by renal genetic diseases
European reference centers and competence centers for cystinosis
Health care providers and researchers in Europe and all over the world