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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2019 Family Conference

Join us in Philadelphia for a weekend full of support and education. Online registration and agenda are now available.

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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

First Patient Dosed in AVROBIO Phase 1/2 Trial...

AVROBIO has announced the first patient has been dosed in the company’s Phase 1/2 trial of AVR-RD-04, an investigational gene...

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New

New Cystinosis Comic

The series is a one-of-a-kind resource for children AND adults curious about cystinosis. Each installment was carefully written and illustrated...

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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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