Cystinosis Treatment Market - Global Industry Insights, Trends, 2026

Cystinosis is a condition characterized by accumulation of the cystine (amino acid) within cells. High amount of cystine damages cells and often forms crystals that can damage tissues and organs. The eyes and kidneys are mainly susceptible to damage; however, the pancreas, muscles, testes, and thyroid can also be affected. Cystinosis is categorized into three different types; nephropathic, non-nephropathic or ocular, and intermediate cystinosis. Nephropathic (infantile) cystinosis is the most severe and common form of cystinosis. Renal Fanconi syndrome and growth failure are usually the first noticeable symptoms of this disorder. Intermediate cystinosis is characterized by symptoms similar to that of nephropathic cystinosis. However, these symptoms are not prominent till age of 8-20 years. Non-nephropathic cystinosis generally affects adults during middle age with eye disorder. Kidney disease does not occur in these individuals. Individuals with non-nephropathic cystinosis develop photophobia due to cystine crystal accumulation in the eyes.

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All three types of cystinosis occur due to mutations in the CTNS gene. Mutations in CTNS gene cause deficiency of a transporter protein called cystinosin. Cystinosin normally moves cystine out of the lysosomes, which are compartments in the cell that recycle and digest materials. Defects in cystinosin, allows accumulation of cystine and forms crystals in the lysosomes and its buildup damages cells in the eyes and kidneys. According to National Institutes of Health (NIH), cystinosis affects around 1 in 100,000 to 200,000 infants globally. Cystinosis is the most common cause of renal Fanconi syndrome in children and accounts for nearly 5% of all childhood cases of kidney failure. Fanconi syndrome, a rare disorder of kidney tubule function results in excess amounts of potassium, uric acid, glucose, phosphates, bicarbonate, and certain amino acids excreted in the urine. Cysteine depleting therapy can significantly reduce cysteine levels inside the cells. It improves growth and decreases kidney damage in children. Symptomatic therapy treats renal Fanconi syndrome with a high intake of electrolytes and fluids to prevent extreme body dehydration. Sodium bicarbonate, potassium, sodium citrate, and magnesium can help to keep standard electrolyte stability. Acetyl cholinesterase (ACE) inhibitors are also used sometimes to limit the growth of the renal disease.

Cystinosis Treatment Market Dynamics

Various government grants to support the diagnosis and treatment of cystinosis is boosting growth of the market. For instance, in 2013, the Cystinosis Research Foundation awarded six grants worth US $1.29 million to Cystinosis researchers for developing better treatments and a cure for the disease. Organizations such as Cystinosis Research Network are responsible to spread awareness regarding disease by celebrating Cystinosis Awareness Day on May 7, every year. Furthermore, product approval by the Food and Drug Administration (FDA) is expected to boost growth of the cystinosis treatment market over the forecast period. In 2013, the FDA approved the delayed-release formulation of cysteamine bitartrate (DR-C) for patients aged 6 years and above, and the label was expanded in 2015 to include children age two years. Cysteamine is a cystine-depleting agents that reduces cystine levels in cells. It has proven to be effective in preventing or delaying renal failure and improving growth of children with Cystinosis. In 2013, FDA approved Cystaran (cysteamine ophthalmic solution) for the treatment of corneal cystine crystal accumulation. Treatment with Cystaran should be initiated as soon as cystine crystals are found within the corneas. Lack of focus on R&D due to low prevalence rate and limited treatment options can negatively impact cystinosis treatment.

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Cystinosis treatment Market Regional Insights

Regional segmentation of Cystinosis treatment market by Coherent Market Insights, includes North America, Latin America, Europe, Asia Pacific, Middle East, and Africa. North America is the expected to dominate the cystinosis treatment market. According to an article published by Cystinosis Research Network, an estimated 15 new nephropathic cystinosis cases are diagnosed in the U.S. annually. Moreover, the network also works on increasing awareness about disease among regional population. High prevalence rate of cystinosis in Europe is expected to drive growth of the cystinosis treatment market in the region. According to National Institutes of Health (NIH), cystinosis affects 1 in 26,000 persons in France.

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