Cystinosis community

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

Yago's Story by Yago 3 months ago


Hi. My name is Yago. I was diagnosed with cystinosis when I was 20 months old. I am now 6 years-old. Very soon after my diagnosis Dr. Kathia Liliani Zutini, nephrologist, got in touch with Dr. Maria Helena Vaisbich in Sao Paulo, Brazil to begin my treatment.
Here in Fortaleza, Ceara, Brazil, where I live, there is not an appropriate treatment for cystinosis and I am the first confirmed ca...

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Video: Cystinosis Foundation UK - Sunderland Unversity Research by Sunderland University 3 months ago


The 4 minute film reviews research at Sunderland University, with significant coverage of the research into cystinosis treatments being undertaken there. The video includes an interview with Roy...

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Video: Cystinosis Research Foundation 2009 by Cystinosis Research Foundation 3 months ago


An introduction into the lives of three families with children diagnosed with cystinosis and the current state of cystinosis research sponsored by the Cystinosis Research Foundation.

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Video: Mystery Diagnosis Cystinosis by Discovery Health 3 months ago


 


From Discovery Health series: health.discovery.com/tv/mystery-diagnosis/
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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

See all patient groups

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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 (http://bit.ly/ojOgaG), 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:
    http://www.cystinosis.org.uk/archives/3184

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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:
    http://www.cystinosisfoundation.org/Scholarship/

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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: http://www.cystinosisfoundation.org/enews/20110512/

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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...