Cystinosis community

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.

My Best Friend by Ellen 2 months ago

Nik, my brother, is twenty-two months older than me. He is nineteen years old, and is currently attending and living on campus at Indiana State University.
He has been living at Indiana State University for eight months. In the last eight months I have realized how important he is to me. Nik is not only my older brother, but he is also my best friend.
Nik is my best friend because I cannot only talk to him about normal everyday situations, but I can talk to him about my disease, cystinosis. When I try to talk to my parents about my d...

Serena Celebrates 21st Anniversary Of Transplant by Cystinosis Foundation UK 2 months ago

It was in 1990 that Sue Scott took the decision to donate a kidney to her daughter, Serena, who has Cystinosis. Now, in 2011, the Scott family are celebrating the 21st anniversary of the transplant that has transformed Serena’s life.
Serena has no doubt this operation saved her life, as she was already suffering from kidney failure. She was fortunate enough that several family membe...

Annie Kwakkel, Dutch Artist and 2009 Recipient of Deanna Lynn Potts Scholarship by Annie Kwakkel 2 months ago

My own physical body plays a big part in my art work and this is because of different experiences, such as dysfunctions, highly athletic performances - I was a driven gymnast for 10 years - and in general the necessity of our bodies. Without a body, you do not exist.
Because of these experiences, I am more aware of my own body, and the opportunities I have, because I know it is not obviou...

Klaas tells about his life with cystinosis by Klaas 2 months ago

When I was four years old, the doctor in the hospital concluded that I suffered from cystinosis. A few months earlier, the same doctor concluded the same for my sister. Since cystinosis is a hereditable disease, it could be the case that I suffered from it too. And unfortunately, this was the case.
Cystinosis is a metabolic disease characterized by a disorder in the body cells. In cystinosis patients, the body cells are unable to transfer cystine out of the cells which leads to the accumulation of cystine in all body cells. That is har...

Patient groups

  • Cystinosis Support Australia

  • Cystinosis Foun. France

  • Cystinosis Support Germany

  • Cystinosis Foun. Ireland

  • Mexican Cystinosis Association

  • Cystinosis Group Netherlands

  • Cystinosis Foun. UK

  • Cystinosis Foun. USA

  • Cystinosis Research Network

  • South Africa Support Group

  • Cystinosis Research Foundation

  • Cystinosis Foundation Venezuela

  • Italian Cystinosis Assoc.

  • Brazil Cystinosis Support


Cystinosis Recent Activity

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    RP 103 phase 3 trial
    topic, published 9 days ago

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    Hello I am jurian and I am 15 years old. I am from The Netherlands and I take part in the phase 3 trial. I wonder who else takes part in this trial and what are your experience with the new drug RP 103?

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    Delayed release (DR) cysteamine (RP103)...
    topic, published 14 days ago

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    The results of the Phase III trial seem to be positive (, what does this mean to patients? When can patients realistically expect this new drug to be approved by the drug regulatory agencies?

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    Sky Dive & School Fundraising Events Top £3,000
    topic, published 16 days ago

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    I am amazed at how Cystinosis patients, families, and their entire communities come together to help raise money for research.

    Here is another great example of that via Cystinosis UK:

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    Getting information on Cystinosis
    topic, published 21 days ago

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    he National Institutes of Health have Genetic and Rare Disease (GARD) Information specialists that may be able to help you find information.

    The GARD Information Center does not provide genetic counseling and does not offer diagnostic testing, referrals, medical treatment or advice.

    There i...

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    The success of this year's local Real Men Can Cook event has enabled the organizers of the fundra...
    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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    CONGRATULATIONS to Mikaela Gard, this years winner of the Deanna Lynn Potts Scholarship...
    topic, published 29 days ago

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    More on the Potts Scholarship here:

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    Forum use
    topic, published about 1 month ago

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    You're French, don't hesitate to post in French. If you want a message translated, ask for a translation. I'll be happy to help you in any way if I can.

    The French website will be updated. We will let you know when we put it online and wait for your criticisms. The forum will be used (linked fro...

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    Cystinosis Foundation USA Newsletter Now Online...
    topic, published about 1 month ago

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    The Cystinosis Foundation USA has released their most recent newsletter detailing their progress in funding research, support for organisations around the world and other activities.

    Read The Newsletter here:

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    Eye Problems and New Treatments
    document, published 2 months ago

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    Full article

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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 tasteles...