Welcome to theCystinosis Research Network

Cystinosis is a rare, genetic, metabolic, lysosomal storage disease that causes an abnormal accumulation of the amino acid cystine in various organs and tissues of the body such as the kidneys, eyes, muscles, pancreas and brain.

The cystine accumulation causes widespread tissue and organ damage. Cystine accumulation can lead to kidney failure, muscle wasting, swallowing difficulty, diabetes, hypothyroidism, cerebral atrophy, photophobia, blindness, corneal ulceration, ventilatory impairment, and more. Without treatment, children with cystinosis will usually develop end stage kidney failure and die prematurely.

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2021 Family Conference

Join us in July 2021 in  Nashville, Tennessee to connect with cystinosis individuals and professionals from around the world.

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Health Care Professionals

The CRN provides the latest updates on research and treatment advancements, funds research grants and provides best clinical practices resources.

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News

New

Adults with Cystinosis Lead Video Conference Series

In the third episode of “Cystinosis Sessions,” a live video conference series created by...

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New

Survey: Impact of COVID-19 + Rare Diseases

The Rare Diseases Clinical Research Network (RDCRN) is hoping to learn how the...

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Resources

Newly Diagnosed

You’ve received a diagnosis. Now what?

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Education

Daily life with cystinosis can present challenges. There are resources to help you along the way.

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Research Developments

Teams of medical experts are researching every aspect of cystinosis with the purpose of understanding our disease, finding improved treatments and a cure.

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