Cystinosis community

Here's a selection of information from patients & professionals to better understand Cystinosis.

Cystinosis resources

Cystinosis Frequently Asked Questions

Here are some of the most frequently asked questions and their answers:

If you are a patient or carer with a question about living with Cystinosis, about treatments, or other relevant information please email your question to FAQ@rarediseasecommunities.org and we will put it to the specialists who have agreed to answer your questions from time to time.

See all FAQs

What is Cystinosis?

Cystinosis is a metabolic disease characterized by an abnormal accumulation of the amino acid cystine in various organs of the body such as the kidney, eye, muscle, pancreas, and brain. Different o...

Read full answer

Cystinosis Patient Groups

These are patient organisations that have experience and expertise in Cystinosis. They are supporters of this website. Contact them for more information on their activities.

This is a placeholder. In editing mode, double-click me to edit.

See all Patient Groups

  • Cystinosis Support Australia

    The Australian Cystinosis Support Group's purpose is to provide information and support for families and friends living with Cystinosis.

    Contact Cystinosis Support Australia

  • Cystinosis Foun. France

    Contact Cystinosis Foun. France

  • Cystinosis Support Germany

    Und genau aus diesem Grund haben wir 1991 die Cystinose-Selbsthilfe e.V. ins Leben gerufen mit dem klaren Ziel: einerseits Ansprechpartner für Patienten, Familien und Freunde zu sein und Informationen wie praktische Hilfen zu geben, andererseits den Kontakt zu Kinderärzten und Nephrologen zu halten, die Forschung bestmöglich zu unterstützen und dort voranzutreiben, wo es uns möglich ist. Um beides zu vereinigen, bieten wir auf unseren jährlichen Familienfreizeiten die Möglichkeit zum persönlichen Austausch - mit Patienten, Familien und Experten.

    Contact Cystinosis Support Germany

  • Cystinosis Foun. Ireland

    Cystinosis Foundation Ireland is an Irish registered charity, registered number CHY15517. It is an all volunteer, non-profit organisation dedicated to providing services for those in affected by Cystinosis. Cystinosis Foundation Ireland was founded in 2003 by these people and their families and friends with the following four aims: -Research Support: The Foundation raises funds to promote research into the causes and improved treatments of Cystinosis and to hopefully one day find a cure. -Patient/Parental support -Providing an Internet website with information on the disease and any updated information or news as it becomes available. -Education & awareness about the condition to the Medical Profession and the public. Almost nothing is known about the condition in the general public and indeed the Medical Profession. Many patients have experienced misdiagnosis, sometimes taking months and on occasion, years to be correctly diagnosed. Early diagnosis is crucial so that cysteamine therapy (Cystagon™) is started as soon as possible.

    Contact Cystinosis Foun. Ireland

  • Mexican Cystinosis Association

    La Asociacion Mexicana de Cistinosis AC ha sido creada con el fin de encaminar los esfuerzos de la sociedad civil para abatir el grave problema medico-social que constituye la enfermedad metabólica conocida como "Cistinosis" en México y sus consecuencias.

    Contact Mexican Cystinosis Association

  • Cystinosis Group Netherlands

    De Cystinose Groep is opgericht in November 2000 en is een groep voor ouders met een kind of kinderen met de stofwisselingsziekte cystinose en voor volwassenen met deze aandoening. Wij zijn een diagnosegroep van de VKS (Volwassenen, Kinderen en Stofwisselingsziekten) te Zwolle.

    Contact Cystinosis Group Netherlands

  • Cystinosis Foun. UK

    The charity was founded in 1998 by Jonathan Terry, the oldest surviving cystinotic patient in Europe. In concert with the Trustees that he assembled, Jonathan established the aims for the Foundation and wrote the Constitution. Charity status was achieved in March 1999 and a launch conference was held that April in Leeds. Since that time significant funds have been raised for research related to cystinosis, many patients and parents have been helped with advice and support, and awareness of cystinosis among the medical community has been raised.

    Contact Cystinosis Foun. UK

  • Cystinosis Foun. USA

    Cystinosis Foundation Mission The Cystinosis Foundation was established in 1983 with a mission to educate patients, families and medical professionals about cystinosis, to provide emotional support for those coping with this rare disease and to encourage and support research for improved treatments and a cure. Since 2000 our mission has been extended internationally to reach and unify cystinosis patients wherever they live in the world. Our mission is accomplished through the publication of newsletters and brochures, the creation of patient support groups and the hosting of unique educational family conferences that include medical professionals.

    Contact Cystinosis Foun. USA

  • Cystinosis Research Network

    The Cystinosis Research Network is an all-volunteer, non-profit organization dedicated to supporting and advocating research, providing family assistance and educating the public and medical communities about Cystinosis. We are a private, nonprofit 501(c)(3) corporation, Federal Tax ID 04-3323789. The vision of the Cystinosis Research Network is the discovery of improved treatments and ultimately a cure for Cystinosis. Our commitment to our community lies in our tireless efforts to provide family assistance through facilitating several support groups as well as hosting an annual conference. At this conference we bring families and the medical community together in hopes to accelerate the accomplishment of our stated goals and objectives.

    Contact Cystinosis Research Network

  • South Africa Support Group

    Chair, Gail Daniels: gail.cystinosissa@gmail.com

    Contact South Africa Support Group

  • Cystinosis Research Foundation

    The Cystinosis Research Foundation’s mission is two-fold and focused: to find better treatments and a cure for cystinosis. Funding quality research studies remains a priority and is an ongoing process. This organization was established in 2003 and to date has raised and funded more than $11.8 million to cystinosis research and has funded 77 research studies and fellowships.

    Contact Cystinosis Research Foundation

  • Cystinosis Foundation Venezuela

    Contact person: Dr. Alexander Mendez cystinosisfoundationvenezuela@gmail.com

  • Italian Cystinosis Assoc.

    L’associazione, costituita legalmente nel novembre 2005, persegue i seguenti obiettivi: -favorire l’incontro tra i malati e le loro famiglie per scambi di idee ed esperienze; -cercare di migliorare la qualita’ della vita delle persone ammalate; -promuovere lo studio e la ricerca sulla cistinosi; -costruire e mantenere aggiornato un sito web con il quale fornire informazioni precise, aggiornate e dettagliate -favorire contatti nazionali ed internazionali con analoghe associazioni;

    Contact Italian Cystinosis Assoc.

  • Brazil Cystinosis Support

    Contact person: Xenia Mota Her email is: xefmota@yahoo.com.br No website at this time.

See all Patient Groups

Cystinosis Documents

Resources, documents and detailed informations on Cystinosis. In this section you can download brochures, ask for printed documents or find useful links.

See all Documents

Cystinosis Articles

Most recent articles:

See all Articles

Eye Problems and New Treatments

Cystinosis is a rare autosomal recessive metabolic disorder characterized by cellular accumulation of cystine crystals in many organs and tissues. Ocular complications of this disorder include phot...

Read

Cure Cystinosis International Registry – CCIR

The CCIR is the only international patient registry in the world dedicated to the cystinosis community. The CCIR was established for the purpose of collecting medical history and information and to...

Read

Orphanet: Cystinosis

Cystinosis is a metabolic disease characterised by an accumulation of cystine inside the lysosomes of different organs and tissues due to a defect in cystine transport out of lysosomes. Prevalence ...

Read

Cystinosis Events

Most recent events:

See all Events

  • May 2012

  • 6th European Conference on Rare Diseases & Orphan Products (ECRD 2012)

    From 23 to 25 May 2012

    MCE Conference Centre in Brussels, Belgium

    More info

  • June 2012

  • European Human Genetics Conference 2012

    From 23 to 26 June 2012

    Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe. The Society will encourage and seek to integrate research and its translation into clinical benefits and professional and public education in all areas of human genetics.

    More info

  • 7th International Cystinosis Congress

    From 28 June to 2 July 2012

    In collaboration with AIRG-France and Cystinose France, this important bi-annual meeting for families and medical professionals features presentations by experts in the field of cystinosis about research progress, question and answer sessions, workshops and opportunities to meet individuals and families coping with this rare disease in a relaxed and informal atmosphere. 2012 promises to be a year of major steps forward for our community, including anticipated approval and availability of an eye treatment for cystinosis, and long-acting cysteamine requiring twice daily dosage. We hope you will join us to hear directly from experts about developments in gene and stem cell therapy and to connect with others affected by cystinosis.

    More info

  • November 2012

  • 62nd Annual Meeting of the American Society of Human Genetics (ASHG)

    From 6 to 9 November 2012

    "We have 24 invited slots available and anticipate receiving over 120 proposals. We encourage you to provide as much information as possible in order to assist the Program Committee in their decision making. The ASHG 2012 Program Committee encourages the submission of debate or panel style sessions on thought-provoking or controversial topics."

    More info

Cystinosis community news

See all news