Cystinosis

Cystinosis is a condition in which the body accumulates the amino acid cystine (a building block of proteins) within cells. Excess cystine forms crystals that can build up and damage cells. These crystals negatively affect many systems in the body, especially the kidneys and eyes.

What is Cystinosis?

Cystinosis is a lysosomal storage disease characterized by an abnormal accumulation of the amino acid cystine in the cells of the body. Also called cystine storage disease, it is an inborn error of metabolism that leads to the deposition of cystine crystal in various tissues such as the bone marrow, the cornea, the kidney and the liver.

Cystinosis Diagnosis

Cystinosis Genetics

Cystinosis Treatment

UB research identifies key mechanism in infantile cystinosis

University at Buffalo research has identified how a misstep in the genesis of a key component of the kidney causes infantile cystinosis, a rare disease that significantly shortens the lifespan of patients.

11 Dec 2023

Same cellular mechanism implicated in cystic fibrosis and rare disease cystinosis

University of Michigan researchers have discovered that the same cellular mechanism involved in a form of cystic fibrosis is also implicated in a form of a rare disease called cystinosis.

28 Aug 2023

Stem cell transplants may be a promising therapeutic against Alzheimer's, study shows

In the ongoing search for a cure for Alzheimer's disease, a burgeoning branch of medicine is bringing new hope. Stem cell therapies are already being used to treat various cancers and disorders of the blood and immune system.

9 Aug 2023

Insilico Medicine and MIKADO team up to find new treatments for cystinosis

A team led by researchers at the Mechanisms of Inherited Kidney Disorders (MIKADO) group at the University of Zurich (Zurich, Switzerland) has used Insilico Medicine's generative artificial intelligence (AI) target discovery engine, PandaOmics, to identify actionable drug targets for the lysosomal storage disease cystinosis and to validate them in preclinical models of the disease.

14 Jul 2023

AI-powered drug discovery offers hope for cystinosis patients

Artificial intelligence is becoming increasingly important in drug discovery. Advances in the use of Big Data, learning algorithms and powerful computers have now enabled researchers at the University of Zurich (UZH) to better understand a serious metabolic disease.

14 Jul 2023

Scientists unravel the molecular origin of rare genetic disease cystinosis

The rare genetic disease cystinosis is caused by mutations in the gene for a protein called cystinosin. A team of scientists has now solved the structure of cystinosin and determined how mutations interfere with its normal function, providing insights into the underlying mechanisms and suggesting a way to develop new treatments for the disease.

15 Sep 2022

Cysteamine inhibits SARS-CoV-2 variants of concern in vitro

Researchers in the United States have shown that a compound currently used to treat cystinosis exhibits broad antiviral activity against variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) – the agent that causes coronavirus disease 2019 (COVID-19).

5 Oct 2021

Existing drug for rare kidney disease could benefit patients with mitochondrial disorders

New preclinical findings from extensive cell and animal studies suggest that a drug already used for a rare kidney disease could benefit patients with some mitochondrial disorders--complex conditions with severe energy deficiency for which no proven effective treatments exist.

27 Feb 2019

Single infusion of wildtype HSPCs halts cellular damage caused by neuromuscular disorder in mice

Researchers at University of California San Diego School of Medicine report that a single infusion of wildtype hematopoietic stem and progenitor cells (HSPCs) into a mouse model of Friedreich's ataxia (FA) measurably halted cellular damage caused by the degenerative disease.

25 Oct 2017

CIRM approves $5.2 million for research on life-long treatment for rare childhood disease

Cystinosis is a rare disease that usually strikes children before they are two years old and can lead to end stage kidney failure before their tenth birthday.

22 Sep 2016

R. Bryan Miller Symposium to spotlight special focus on rare disease research

The University of California, Davis Department of Chemistry will spotlight a special focus on rare disease research with this year's 15th annual R. Bryan Miller Symposium. Experts in rare diseases will gather at the UC Davis Conference Center March 5 for a conference highlighting the opportunities and challenges in applying cutting edge technologies and "precision medicine" to better treat conditions that together affect millions of people, especially children.

16 Feb 2015

Scientists identify new cellular pathway affected in cystinosis

Scientists at The Scripps Research Institute have identified a new cellular pathway that is affected in cystinosis, a rare genetic disorder that can result in eye and kidney damage.

11 Feb 2015

Cystinosis Research Foundation granted $2.15M in 2013 to researchers investigating cure for cystinosis

The Cystinosis Research Foundation awarded $2,153,048 in 2013 to researchers investigating better treatments and a cure for cystinosis, a rare metabolic and genetic disease that afflicts about 500 children and young adults in the United States and 2,000 worldwide.

19 Feb 2014

Tackling orphan diseases: an interview with Damian Marron, CEO, TxCell

The exact definition of orphan diseases varies depending on where you are in the world. In the EU it's defined as a prevalence of less than 1 in 2,000, which equates to about 250,000 patients across the EU.

4 Dec 2013

Sigma-Tau Pharmaceuticals recognized as a rare disease pioneer

Sigma-Tau Pharmaceuticals, Inc. announced today that the Company was recognized last evening as a rare disease pioneer at the 30th anniversary celebration of The National Organization for Rare Disorders.

15 May 2013

University of Sunderland pharmaceutical scientists receive CFUK grant for research into cystinosis

Pharmaceutical scientists at the University of Sunderland have been awarded £125,000 by the Cystinosis Foundation (CF) UK to fund the next stage of their research into a rare genetic disease.

7 Mar 2013

Researchers characterize novel lysosomal PQ protein linked to cystinosis

Researchers at the Université Paris Descartes/CNRS and the Université libre de Bruxelles have made a major breakthrough in the study of cystinosis, a genetic disease that can lead to serious disorders, notably fatal kidney failure.

23 Nov 2012

Robert Gordon University scientists to develop new treatment for cystinosis

A team of researchers at Robert Gordon University has secured a six figure sum from Sparks, a leading children’s medical research charity, to develop a revolutionary treatment for a rare genetic disorder.

6 Sep 2011

Raptor reopens enrollment in DR Cysteamine Phase 3 trial to treat patients with nephropathic cystinosis

Raptor Pharmaceutical Corp., today announced it has reopened enrollment in its Phase 3 clinical trial of its proprietary delayed-release oral formulation of cysteamine bitartrate in patients with nephropathic cystinosis.

15 Feb 2011

Raptor completes enrollment in DR Cysteamine Phase 3 clinical trial in cystinosis

Raptor Pharmaceutical Corp., today announced it has completed enrollment in its Phase 3 clinical trial of its proprietary delayed-release oral formulation of cysteamine bitartrate ("DR Cysteamine") in patients with nephropathic cystinosis ("cystinosis").

24 Jan 2011

Cystinosis

Overview

Cystinosis Diagnosis

Cystinosis Genetics

Cystinosis Treatment

Latest Cystinosis News and Research

UB research identifies key mechanism in infantile cystinosis

Same cellular mechanism implicated in cystic fibrosis and rare disease cystinosis

Stem cell transplants may be a promising therapeutic against Alzheimer's, study shows

Insilico Medicine and MIKADO team up to find new treatments for cystinosis

AI-powered drug discovery offers hope for cystinosis patients

Scientists unravel the molecular origin of rare genetic disease cystinosis

Cysteamine inhibits SARS-CoV-2 variants of concern in vitro

Existing drug for rare kidney disease could benefit patients with mitochondrial disorders

Single infusion of wildtype HSPCs halts cellular damage caused by neuromuscular disorder in mice

CIRM approves $5.2 million for research on life-long treatment for rare childhood disease

R. Bryan Miller Symposium to spotlight special focus on rare disease research

Scientists identify new cellular pathway affected in cystinosis

Cystinosis Research Foundation granted $2.15M in 2013 to researchers investigating cure for cystinosis

Tackling orphan diseases: an interview with Damian Marron, CEO, TxCell

Sigma-Tau Pharmaceuticals recognized as a rare disease pioneer

University of Sunderland pharmaceutical scientists receive CFUK grant for research into cystinosis

Researchers characterize novel lysosomal PQ protein linked to cystinosis

Robert Gordon University scientists to develop new treatment for cystinosis

Raptor reopens enrollment in DR Cysteamine Phase 3 trial to treat patients with nephropathic cystinosis

Raptor completes enrollment in DR Cysteamine Phase 3 clinical trial in cystinosis

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

Cystinosis

Overview

Latest Cystinosis News and Research

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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