Cystinosis community

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

Cystinosis Foundation, Inc. Beyond Borders

Written by Valerie Hotz, published 2 months ago.

When my beautiful 1 ½ year old nephew was diagnosed with cystinosis in 1982, there was no approved treatment available, no support group, nowhere to turn. Nothing. No one we knew had ever heard of cystinosis. Our family immediately began researching and quickly discovered a pediatrician who was an expert on this rare disease, Dr. Jerry Schneider.

We found an experimental study was underway involving two different drugs, cysteamine and phosphocysteamine. My nephew became involved in this study. It was not until 1994 that cysteamine was approved by the U.S. Food and Drug Administration and remains the only treatment for cystinosis. Studies to treat cystinosis in the eyes began in 1986 and in 2011 we eagerly await news from Sigma-Tau this summer regarding final FDA approval of Cystaran, a treatment for cystinosis in the eyes.

Back in the early 1980’s, there was nowhere to turn. In a conversation with Dr. Schneider, my mother, Jean Hobbs-Hotz, asked Dr. Schneider what she could do to help. He mentioned that he had always wanted a support group for the cystinosis families he saw in clinic. Dr. Schneider recognized the benefit of having families connected and sharing experiences together. It was very important to educate families about cystinosis, including for instance, the fact that it is a recessive trait and is inherited. Our first meeting took place in Northern California in 1983 and Dr. Schneider attended, along with a handful of families who lived in the area. Research took place at that very first meeting. Parents who wanted to participate had their blood drawn to test for carrier status. By 1985, the Cystinosis Foundation hosted the first educational conference in Bethesda, Maryland.

To date, the Cystinosis Foundation has hosted 25 unique educational conferences for families and medical professionals, taking this important mission internationally in 2000. In addition to improving the level of care of cystinosis patients, this respected and valued program has contributed to strengthening the international scientific community, ultimately further benefitting cystinosis patients and their families.

We are pleased to announce the publication of “Nephropathic Cystinosis Explained to Children”. This easy to understand booklet is the result of collaboration between the Cystinosis Foundation, Orphan Europe and William van’t Hoff, MD. Please visit www.cystinosisfoundation.org to order a copy.

As you review this web site, you will notice the incredible number of support groups located on four different continents. We encourage you to use this site to communicate with one another. The human translation feature makes it easier than ever before to reach out to our international community. Volunteer moderators help ensure this is a reliable source of information. Eurordis and NORD are nonprofit organizations and ensure your information will not be sold.
It is a pleasure to welcome you to this forum, where you can engage with friends across the miles and have your information remain secure. Many thanks to Eurordis and the National Organization for Rare Disorders for partnering to bring this program to the world wide web.

Written by Valerie Hotz, published 2 months ago.

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 (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...