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About Cystinosis

What is cystinosis?

Cystinosis is a rare inherited metabolic disorder that impacts approximately 500 to 600 people in the United States.1 It is classified as a lysosomal storage disorder (LSD), leading to the accumulation of the cystine within the lysosomes of almost every cell.2

Lysosomal storage disorders include a spectrum of rare genetic conditions stemming from aberrations in lysosomes, the cellular organelle responsible for recycling, and waste management. Within these pathologies, substances typically subjected to degradation and reuse via lysosomal enzymes instead accumulate within lysosomes, inciting a range of symptoms and complications that afflict multiple organs across the body.3

Cystinosis symptoms can include4:

  • Hypothyroidism
  • Impaired growth
  • Rickets
  • Fanconi syndrome and renal failure
  • Ophthalmic complications
  • Deterioration of the central nervous system

There are 3 forms of cystinosis5:

  • Nephropathic (or infantile) cystinosis is the most prevalent and severe form of cystinosis
  • Intermediate cystinosis (or juvenile) is characterized by slower disease progression
  • Nonnephropathic (or ocular) cystinosis affects the eyes but does not present in other body systems
Illustration of normal lysosome showing cystine exiting the lysosome
Illustration of lysosome of a person with cystinosis, showing how cystine builds up because it is unable exit the lysosome

Nephropathic cystinosis presents within a child’s first year

Cystinosis infant icon

Cystinosis 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.5,6

Initial cystinosis symptoms are commonly the result of cystine accumulation in the kidney tubules, which results in Fanconi syndrome. Fanconi syndrome involves cellular atrophy of the proximal renal tubules, giving “swan neck” like deformities. Cystinosis is the most common identifiable cause of renal Fanconi syndrome in children.4 If untreated, this will lead to end-stage renal disease, requiring a kidney transplant by age 10 years.5,6

Within infants’ first 6-12 months, the eyes are commonly affected and become photosensitive, and the bones can develop rickets.

Progressive but manageable

Cystine accumulation can harm nearly every cell in the body, including cells in the brain, thyroid, pancreas, muscles, throat, lungs, and male reproductive organs.4-7

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

With cystine-depleting therapy (CDT), cystine levels may be controlled and organ damage may be lessened, limited, or even delayed2,7

Cystinosis kidneys icon

While cystinosis can affect several organs, damage is most commonly seen in the kidneys. Patients often require a kidney transplant, but with early and consistent CDT treatment, it may be delayed until early adulthood.2,6

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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. Veys KR, Besouw MT, Pinxten AM, van Dyck M, Casteels I, Levtchenko EN. Cystinosis: a new perspective. Acta Clin Belg. 2016;71(3):131-137. 4. Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2008;23(6):863-878. 5. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111-121. 6. 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. 7. 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.

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 lntracranial 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.

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 lntracranial 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.