What is cystinosis?

Cystinosis is a rare, inherited metabolic disorder that affects about 500 to 600 children in the United States.1

Cystinosis is a lysosomal storage disorder (LSD) that results in the amino acid cystine accumulating inside the lysosomes of nearly every cell.2 Cystine accumulation results in the formation of crystals that lead to cell damage and death in tissues and organs throughout the body.2 There are three forms of cystinosis3:

- Nephropathic (or infantile) cystinosis is the most prevalent and severe form of cystinosis

- Intermediate (or juvenile) cystinosis is characterized by slower disease progression 

- Nonnephropathic (or ocular) cystinosis affects the eyes and does not present in other body systems

Illustration of normal lysosome showing cystine exiting the lysosome Illustration of normal lysosome showing cystine exiting the lysosome

Normal lysosome

Illustration of lysosome of a person with cystinosis, showing how cystine builds up because it is unable exit the lysosome Illustration of lysosome of a person with cystinosis, showing how cystine builds up because it is unable exit the lysosome

Lysosome of a person with cystinosis

Nephropathic cystinosis presents within a child’s first year

Cystinosis infant icon Cystinosis infant icon

Symptoms commonly present in otherwise healthy infants within the first year of life. Parents primarily note frequent wet diapers (polyuria) and persistent thirst (polydipsia, resulting in dehydration) when first describing their child’s symptoms.3,4

Initial symptoms are commonly the result of cystine accumulation in the kidney tubules, which results in Fanconi syndrome. If untreated, this will lead to end-stage renal disease, requiring a kidney transplant by the age of 10.3,4

Also commonly affected in the first 6 to 12 months of life are the eyes, which can become photosensitive, and the bones, which can develop rickets.3,4

Progressive but manageable

Cystine accumulation can harm nearly every cell in the body, including those in the brain, thyroid, pancreas, muscles, throat, lungs, and male reproductive organs.3-6

Diagram of the organs impacted from the accumulation of cystine in the eyes, brain, thyroid, throat, pancreas, lungs, kidneys, male reproductive organs, muscles, and bonesDiagram of the organs impacted from the accumulation of cystine in the eyes, brain, thyroid, throat, pancreas, lungs, kidneys, male reproductive organs, muscles, and bones

*Cystinosis has not been shown to cause infertility in women.

Eye icon
Eyes

Sensitivity to light (photophobia)

childhood and adulthood

Blindness

childhood and adulthood

Thyroid icon
Thyroid

Poorly working thyroid (hypothyroidism)

childhood and adulthood

Pancreas icon
Pancreas

Diabetes

childhood and adulthood

Kidneys icon
Kidneys

Fanconi syndrome

infancy, childhood, and adulthood

Kidney failure

childhood and adulthood

Muscle icon
Muscles

Muscle weakness and decreased muscle mass (myopathy)

childhood and adulthood

Brain icon
Brain

Visual or learning issues

childhood and adulthood

Throat icon
Throat

Trouble swallowing

childhood and adulthood

Lung icon
Lungs

Problems breathing

childhood and adulthood

Sperm icon
Male reproductive organs*

Not being able to father children naturally (infertility) adulthood

Bone icon
Bones

Softening or weakening of bones (rickets) infancy, childhood and adulthood

*Cystinosis has not been shown to cause infertility in women.

With cystine-depleting therapy (CDT), cystine levels may be controlled and some damage to organs may be prevented or limited2,6

Cystinosis kidneys icon

With cystine-depleting therapy (CDT), cystine levels may be controlled and some damage to organs may be prevented or limited2,6

While cystinosis is more than a kidney disease, the damage occurring in the body is most readily observed in the kidneys. Patients often eventually need a kidney transplant to restore kidney function, though a transplant may be delayed until early adulthood with early and consistent CDT treatment.2,4

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References: 1. Nesterova G, Gahl WA. Infantile nephropathic cystinosis standards of care. Cystinosis Research Network. June 2012. Accessed June 18, 2019. https://www.cystinosis.org/publications/infantile-nephropathic-cystinosis-standards-of-care/ 2. Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E. Cystinosis: a review. Orphanet J Rare Dis. 2016;11(47):1-17. 3. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111-121. 4. Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med. 2007;147(4):242-250. 5. Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2008;23(6):863-878. 6. Langman CB, Barshop BA, Deschênes G, et al. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney Int. 2016;89(6):1192-1203.

INDICATION and IMPORTANT SAFETY INFORMATION
INDICATION

PROCYSBI (cysteamine bitartrate) delayed-release capsules and delayed-release oral granules is a cystine-depleting agent indicated for the treatment of nephropathic cystinosis in adults and pediatric patients 1 year of age and older.

INDICATION

PROCYSBI (cysteamine bitartrate) delayed-release capsules and delayed-release oral granules is a cystine-depleting agent indicated for the treatment of nephropathic cystinosis in adults and pediatric patients 1 year of age and older.

IMPORTANT SAFETY INFORMATION
CONTRAINDICATIONS
  • Patients with serious hypersensitivity reaction, including anaphylaxis to penicillamine or cysteamine.
WARNINGS AND PRECAUTIONS
  • Ehlers-Danlos-like Syndrome: Skin and bone lesions that resemble clinical findings for Ehlers-Danlos-like syndrome have been reported in patients treated with high doses of immediate-release cysteamine bitartrate or other cysteamine salts. Monitor patients for development of skin or bone lesions and reduce PROCYSBI dosing if patients develop these lesions.
  • Skin Rash: Severe skin rashes such as erythema multiforme bullosa or toxic epidermal necrolysis have been reported in patients receiving immediate-release cysteamine bitartrate. Discontinue use if severe skin rash occurs.
  • Gastrointestinal (GI) Ulcers and Bleeding: GI ulceration and bleeding have been reported in patients receiving immediate-release cysteamine bitartrate. Monitor for GI symptoms and consider decreasing the dose if severe symptoms occur.
  • Fibrosing Colonopathy: Fibrosing colonopathy has been reported with postmarketing use of PROCYSBI. Evaluate patients with severe, persistent, and/or worsening abdominal symptoms for fibrosing colonopathy. If the diagnosis is confirmed, permanently discontinue PROCYSBI and switch to immediate-release cysteamine bitartrate capsules.
  • Central Nervous System (CNS) Symptoms: CNS symptoms such as seizures, lethargy, somnolence, depression, and encephalopathy have been associated with immediate-release cysteamine. Monitor for CNS symptoms; interrupt or reduce the dose for severe symptoms or those that persist or progress.
  • Leukopenia and/or Elevated Alkaline Phosphatase Levels: Cysteamine has been associated with reversible leukopenia and elevated alkaline phosphatase levels. Monitor white blood cell counts and alkaline phosphatase levels; decrease or discontinue the dose until values revert to normal.
  • Benign Intracranial Hypertension: Benign intracranial hypertension (pseudotumor cerebri; PTC) and/or papilledema has been reported in patients receiving immediate-release cysteamine bitartrate treatment. Monitor for signs and symptoms of PTC; interrupt or reduce the dose for signs/symptoms that persist, or discontinue if diagnosis is confirmed.
ADVERSE REACTIONS

The most common adverse reactions reported in PROCYSBI clinical trials (≥ 5%): were:

  • Patients 2 years of age and older previously treated with cysteamine: vomiting, nausea, abdominal pain, headache, conjunctivitis, influenza, gastroenteritis, nasopharyngitis, dehydration, ear infection, upper respiratory tract infection, fatigue, arthralgia, cough, and pain in extremity.
  • Patients 1 year of age and older naïve to cysteamine treatment: vomiting, gastroenteritis/viral gastroenteritis, diarrhea, breath odor, nausea, electrolyte imbalance, headache.
DRUG INTERACTIONS
  • Drugs that increase gastric pH may alter the pharmacokinetics of cysteamine due to the premature release of cysteamine from PROCYSBI and increase WBC cystine concentration. Monitor WBC cystine concentration with concomitant use.
  • Consumption of alcohol with PROCYSBI may increase the rate of cysteamine release and/or adversely alter the pharmacokinetic properties, as well as the effectiveness and safety of PROCYSBI.
  • PROCYSBI can be administered with electrolyte (except bicarbonate) and mineral replacements necessary for management of Fanconi Syndrome as well as vitamin D and thyroid hormone.
USE IN SPECIFIC POPULATIONS
  • Lactation: Because of the potential risk for serious adverse reactions in breastfed children from cysteamine, breastfeeding is not recommended during treatment with PROCYSBI.

Please see Full Prescribing Information.

INDICATION and IMPORTANT SAFETY INFORMATION
INDICATION

PROCYSBI (cysteamine bitartrate) delayed-release capsules and delayed-release oral granules is a cystine-depleting agent indicated for the treatment of nephropathic cystinosis in adults and pediatric patients 1 year of age and older.

INDICATION

PROCYSBI (cysteamine bitartrate) delayed-release capsules and delayed-release oral granules is a cystine-depleting agent indicated for the treatment of nephropathic cystinosis in adults and pediatric patients 1 year of age and older.

IMPORTANT SAFETY INFORMATION
CONTRAINDICATIONS
  • Patients with serious hypersensitivity reaction, including anaphylaxis to penicillamine or cysteamine.
WARNINGS AND PRECAUTIONS
  • Ehlers-Danlos-like Syndrome: Skin and bone lesions that resemble clinical findings for Ehlers-Danlos-like syndrome have been reported in patients treated with high doses of immediate-release cysteamine bitartrate or other cysteamine salts. Monitor patients for development of skin or bone lesions and reduce PROCYSBI dosing if patients develop these lesions.
  • Skin Rash: Severe skin rashes such as erythema multiforme bullosa or toxic epidermal necrolysis have been reported in patients receiving immediate-release cysteamine bitartrate. Discontinue use if severe skin rash occurs.
  • Gastrointestinal (GI) Ulcers and Bleeding: GI ulceration and bleeding have been reported in patients receiving immediate-release cysteamine bitartrate. Monitor for GI symptoms and consider decreasing the dose if severe symptoms occur.
  • Fibrosing Colonopathy: Fibrosing colonopathy has been reported with postmarketing use of PROCYSBI. Evaluate patients with severe, persistent, and/or worsening abdominal symptoms for fibrosing colonopathy. If the diagnosis is confirmed, permanently discontinue PROCYSBI and switch to immediate-release cysteamine bitartrate capsules.
  • Central Nervous System (CNS) Symptoms: CNS symptoms such as seizures, lethargy, somnolence, depression, and encephalopathy have been associated with immediate-release cysteamine. Monitor for CNS symptoms; interrupt or reduce the dose for severe symptoms or those that persist or progress.
  • Leukopenia and/or Elevated Alkaline Phosphatase Levels: Cysteamine has been associated with reversible leukopenia and elevated alkaline phosphatase levels. Monitor white blood cell counts and alkaline phosphatase levels; decrease or discontinue the dose until values revert to normal.
  • Benign Intracranial Hypertension: Benign intracranial hypertension (pseudotumor cerebri; PTC) and/or papilledema has been reported in patients receiving immediate-release cysteamine bitartrate treatment. Monitor for signs and symptoms of PTC; interrupt or reduce the dose for signs/symptoms that persist, or discontinue if diagnosis is confirmed.
ADVERSE REACTIONS

The most common adverse reactions reported in PROCYSBI clinical trials (≥ 5%): were:

  • Patients 2 years of age and older previously treated with cysteamine: vomiting, nausea, abdominal pain, headache, conjunctivitis, influenza, gastroenteritis, nasopharyngitis, dehydration, ear infection, upper respiratory tract infection, fatigue, arthralgia, cough, and pain in extremity.
  • Patients 1 year of age and older naïve to cysteamine treatment: vomiting, gastroenteritis/viral gastroenteritis, diarrhea, breath odor, nausea, electrolyte imbalance, headache.
DRUG INTERACTIONS
  • Drugs that increase gastric pH may alter the pharmacokinetics of cysteamine due to the premature release of cysteamine from PROCYSBI and increase WBC cystine concentration. Monitor WBC cystine concentration with concomitant use.
  • Consumption of alcohol with PROCYSBI may increase the rate of cysteamine release and/or adversely alter the pharmacokinetic properties, as well as the effectiveness and safety of PROCYSBI.
  • PROCYSBI can be administered with electrolyte (except bicarbonate) and mineral replacements necessary for management of Fanconi Syndrome as well as vitamin D and thyroid hormone.
USE IN SPECIFIC POPULATIONS
  • Lactation: Because of the potential risk for serious adverse reactions in breastfed children from cysteamine, breastfeeding is not recommended during treatment with PROCYSBI.

Please see Full Prescribing Information.