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 [email protected] and we will put it to the specialists who have agreed to answer your questions from time to time.

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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...

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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.

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  • 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: [email protected]

    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 [email protected]

  • 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: [email protected] No website at this time.

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Cystinosis Documents

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

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Cystinosis Articles

Most recent articles:

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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...


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...


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 ...


Cystinosis Events

Most recent events:

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  • September 2011

  • UK Cystinosis Conference

    On 24 September 2011

    The Cystinosis Foundation UK is organising a one day conference on Saturday 24th September at the Manchester Conference Centre and you can now register by printing and sending the Registration Form. The conference is being funded by the Foundation, so is free to attend. It is open to all those who are touched by Cystinosis – whether you have Cystinosis, have a family member or friend with Cystinosis, are a researcher, medical professional or in some way connected with the condition. The conference is due to start at 1000 and expected to last until 1700. It is hoped that many will consider staying after the conference for some social time together. Accommodation can be arranged at the Manchester Conference Centre, or one of the many other hotels nearby. Accommodation is your responsibility to arrange, although we will try to advise where possible. If you wish to attend, please download our Registration Form and follow the instructions on the form that explain how to complete and send back to the Cystinosis Foundation UK in order to confirm your attendance. Registration form is online here:

    More info

  • February 2012

  • RE (ACT) Congress

    From 28 February to 2 March 2012

    International Congress on Research of Rare and Orphan Diseases Basel, Switzerland

    More info

Cystinosis community news

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    Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)
    News, published 20 days ago

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    This is a long-term, open-label, study to determine the safety and tolerability of twice a day treatment with Cysteamine Bitartrate Delayed-release Capsules(RP103).

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    Payin’ it forward: Racer goes online to battle Cystinosis
    News, published 23 days ago

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    On a global level, the efforts of local individuals working to help Hank already have gained notice from the Cystinosis Research Foundation — an organization that is pressing for a cure to the disease.

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    The success of this year's local Real Men Can Cook event has enabled the organizers of the fundraiser to present a cheque to the Cystinosis Research Foundation for $30,334.
    News, published 23 days ago

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    The success of this year's local Real Men Can Cook event has enabled the organizers of the fundraiser to present a cheque to the Cystinosis Research Foundation for $30,334.

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    Graduating with a diploma, new kidney
    News, published about 1 month ago

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    Dan, aided by a new kidney transplanted in January to replace the ones wracked by cystinosis, walked with 620 other seniors to receive his Liberty High School diploma in a ceremony neither he nor his parents or teachers thought he'd be able to attend.

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    Sarah’s race for life as rejection leaves her waiting for second kidney transplant
    News, published 3 months ago

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    Now, the 20-year-old, of Moorside, Sunderland, is praying for a miracle as she waits for a suitable donor. Sarah has to endure three hours of dialysis four times a week at Newcastle’s Royal Victoria Infirmary.

    At just 18 months old, the youngster was diagnosed with cystinosis, a rare genetic disease that affects just one in 200,000 people.

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    Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis.
    News, published 3 months ago

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    As part of our continuing work to obtain new pro-drugs for the treatment of nephropathic cystinosis, a number of glutaric and succinic acid derivatives of cystamine have been designed, synthesised and biologically evaluated in vitro. These compounds have been designed as odourless and tasteless...

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    Mother Donates Kidney to Save Daughter's Life
    News, published 3 months ago

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    It took doctors a while to figure it out, but at age 4, she was diagnosed with Cystinosis - a genetic disorder that affects the kidneys. She would eventually need a kidney transplant. Doctors looked for a donor in her family....

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    US Backs UK Researchers To Combat Rare Genetic Disease
    News, published 3 months ago

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    As a result of their ongoing research into improving life-saving drugs used to treat cystinosis, pharmaceutical scientists at the University of Sunderland have now received funding from America to carry out a comprehensive three-year study into the disease using the latest research techniques.

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    Orphanet: Cystinosis European Clinical Trials
    News, published 4 months ago

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    Details about studies in France and the Netherlands...

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    There's solace in numbers in the world of rare diseases
    News, published 4 months ago

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    ...For instance, it took parents Gail and Colin Daniels more than 11 years to put a name to the condition -- cystinosis -- that had dogged their daughter, Danielle, since birth....