Please ensure JavaScript is enabled for purposes of website accessibility Nephropathic Cystinosis Symptoms, Tests, and Management | PROCYSBI® (cysteamine bitartrate)

About Nephropathic Cystinosis

WHAT IS CYSTINOSIS?

Cystinosis is a rare, genetic condition that affects about 500 to 600 people in the United States and an estimated 2,000 worldwide. Cystinosis symptoms usually appear within a child’s first year of life.

Cystine Crystals
  • In people with cystinosis, cystine (an amino acid) builds up in the body’s cells and the cells are unable to remove it
  • When cystine builds up, it forms cystine crystals within cells that can lead to long- term damage to the body’s organs—including the kidneys, eyes, liver, muscles, pancreas, and brain
  • This damage cannot be reversed, but it can be delayed or reduced

What is nephropathic cystinosis?

Nephropathic cystinosis is the most severe and most common form of cystinosis, making up 95% of all cases.

Nephropathic cystinosis causes severe damage to kidneys and other organs all over the body.

Nephropathic cystinosis symptoms usually appear within a child’s first year of life.

How cystinosis affects the body

Cystinosis can affect nearly every organ of the body. Cystinosis treatment can prevent or slow some effects, but existing damage cannot be reversed.

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    Eyes
    Sensitivity to light (photophobia)
    childhood and adulthood Blindness
    childhood and adulthood

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    Thyroid
    Poorly working thyroid (hypothyroidism)
    childhood and adulthood

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    Pancreas
    Diabetes
    childhood and adulthood

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    Kidneys
    Fanconi syndrome
    infancy, childhood, and adulthood
    Kidney failure
    childhood and adulthood

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    Muscles
    Muscle weakness and decreased muscle mass (myopathy)
    childhood and adulthood

Cystinosis Symptoms Cystinosis Symptoms Cystinosis Symptoms
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    Brain
    Visual or learning issues childhood and adulthood

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    Throat
    Trouble swallowing childhood and adulthood

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    Lungs
    Problems breathing adulthood

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    Male reproductive organs*
    Not being able to father children naturally (infertility) adulthood

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

Cystinosis has not been shown to cause infertility in women. If you are pregnant, planning on becoming pregnant, or breastfeeding, talk with your doctor about which treatments may be right for you.

What is Fanconi syndrome?

Over time, nephropathic cystinosis causes damage to the kidneys. This damage makes the kidneys increasingly unable to absorb essential nutrients and filter out the body’s waste—a disorder known as Fanconi syndrome. In people with Fanconi syndrome, nutrients that would normally be absorbed are passed through the kidneys and are eliminated in pee (urine).

Fanconi syndrome is often the first sign of cystinosis, as cystinosis often presents through Fanconi syndrome and leads to cystinosis diagnosis. Cystinosis can be discovered through a white blood cell cystine level test.

Fanconi Syndrome Symptoms Icon

Fanconi syndrome symptoms include:

  • Excessive thirst and peeing (urination)
  • Reduced appetite
  • Weight loss
  • Slow growth
  • Softening or weakening of bones (rickets)

Eventually, the damage caused by cystinosis causes the kidneys to fail completely, which can be treated only with dialysis (an artificial means of getting rid of the body’s waste) and, ultimately, a kidney transplant.

While a transplanted kidney may not be affected by cystinosis, it is important to continue cystine-depleting therapy (CDT) post transplant to help delay or reduce new damage to other organs.

Cystine levels facts icon

Cystinosis facts:

Cystine-depleting therapy (CDT): A treatment that uses cysteamine to reduce the buildup of cystine in cells.

A kidney transplant is not a cure for cystinosis. While a new donor kidney will not be affected, cystine will continue to build up in other parts of the body.

Cystinosis In Adults

How people inherit cystinosis

Cystinosis is an inherited disease that is passed from parent to child,
when a gene that doesn’t work right leads to problems with the way cystine is stored in the body. Cystinosis can only develop in children who receive a non-working copy of the cystinosis gene from each parent.

There are 3 types of cystinosis:

  • Infantile nephropathic cystinosis
  • Juvenile nephropathic cystinosis
  • Non-nephropathic (ocular) cystinosis

How cystine levels are managed

The damage from cystinosis cannot be undone, but it can be delayed or prevented with treatment. The impact of sticking to cystinosis treatment is noticeable, even if people with cystinosis don't notice it themselves. Testing shows how CDTs are working inside the body, and what is happening with cystine levels.

CDTs lower cystine levels, which is why it's important that people with cystinosis take a CDT on time and as prescribed, even if they look and feel fine. Work with the healthcare team to plan a schedule for cystine level testing. Find out more details about cystine level testing.

One study showed that cystine levels increased by more than 50% when the dose was delayed compared to when they took their medicine on time (at 9 hours vs 6 hours).

It’s a lifelong condition, but treatments such as CDT and kidney transplant have allowed people with cystinosis to live longer.

USE and IMPORTANT SAFETY INFORMATION

What is the most important safety information I should know about PROCYSBI?

PROCYSBI can cause serious side effects, including:

  • Skin, bone, and joint problems. People treated with high doses of cysteamine bitartrate may develop abnormal changes of their skin and bones, such as stretch marks, bone injuries (such as fractures), bone deformities, and joint problems. Check your skin while taking PROCYSBI. Tell your doctor if you notice any skin changes or problems with your bones or joints. Your doctor will check you for these problems.
  • Skin rash. Skin rash is common with cysteamine bitartrate and may sometimes be severe. Tell your doctor right away if you get a skin rash. Your dose of PROCYSBI may need to be decreased until the rash goes away. If the rash is severe, your doctor may tell you to stop taking PROCYSBI.
  • Stomach and bowel (intestinal) problems. Some people who take other medicines that contain cysteamine bitartrate may develop ulcers and bleeding in their stomach or bowel. People treated with PROCYSBI may also develop abnormal swelling and narrowing of the large bowel which must be treated promptly. Tell your doctor right away if you get abdominal pain, bloody or persistent diarrhea, bloating, nausea, vomiting, loss of appetite, vomit blood, poor weight gain or weight loss.
  • Central nervous system symptoms. Some people who take other medicines that contain cysteamine bitartrate develop seizures, depression, and become very sleepy. The medicine may affect how your brain is working (encephalopathy). Tell your doctor right away if you develop any of these symptoms.
  • Low white blood cell count and certain abnormal liver function blood tests. Your doctor should check you for these problems.
  • Benign intracranial hypertension (pseudotumor cerebri) has happened in some people who take immediate-release cysteamine bitartrate. This is a condition where there is high pressure in the fluid around the brain. Your doctor should do eye examinations to find and treat this problem early.

Tell your doctor right away if you develop any of the following symptoms while taking PROCYSBI: headache, buzzing or "whooshing" sound in the ear, dizziness, nausea, double vision, blurry vision, loss of vision, pain behind the eye, or pain with eye movement.

What is PROCYSBI?

PROCYSBI (cysteamine bitartrate) delayed-release capsules and delayed-release oral granules is a prescription medicine used to treat nephropathic cystinosis in adults and children 1 year of age and older. It is not known if PROCYSBI is safe and effective in children under 1 year of age.

Do not take PROCYSBI if you are allergic to penicillamine or cysteamine.

Before taking PROCYSBI, tell your doctor about all your medical conditions, including if you:

  • drink alcohol.
  • have a skin rash or bone problems.
  • have or have had stomach or bowel (intestinal) problems including ulcers or bleeding.
  • have a history of seizures, lack of energy, unusual sleepiness, depression, or changes in your ability to think clearly.
  • have liver or blood problems.
  • are pregnant or plan to become pregnant. It is not known if PROCYSBI will harm your unborn baby. Tell your doctor right away if you think that you are pregnant. Talk with your doctor about the benefits and risks of taking PROCYSBI during pregnancy.
  • are breastfeeding or plan to breastfeed. You should not breastfeed during treatment with PROCYSBI. Talk with your doctor about the best way to feed your baby if you take PROCYSBI.

Tell your doctor about all the medicines you take, including prescription and over the counter medicines, vitamins, dietary and herbal supplements. Know the medicines you take. Keep a list of them to show your doctor and pharmacist when you get a new medicine.

What should I avoid while taking PROCYSBI?

  • Do not drive or operate machinery until you know how PROCYSBI affects you. PROCYSBI can make you sleepy or less alert than normal.
  • Do not drink alcohol if you take PROCYSBI. Drinking alcohol while taking PROCYSBI may change how PROCYSBI works and may cause an increase in the amount of PROCYSBI in your blood that may cause serious side effects.

What are the possible side effects of PROCYSBI?

PROCYSBI can cause serious side effects, including:

  • See “What is the most important information I should know about PROCYSBI?”

The most common side effects of PROCYSBI include: vomiting, nausea, stomach (abdominal) pain, pink eye, diarrhea, cold, tiredness, flu, headache, problems with body salts or electrolytes, infection of ear, nose or throat, joint pain.

These are not all the possible side effects of PROCYSBI. Call your doctor for medical information about side effects. You may report side effects to FDA at 1-800-FDA-1088.

For additional important safety information, click here for the Patient Package Insert and discuss with your doctor.

USE and IMPORTANT SAFETY INFORMATION

What is the most important safety information I should know about PROCYSBI?

PROCYSBI can cause serious side effects, including:

  • Skin, bone, and joint problems. People treated with high doses of cysteamine bitartrate may develop abnormal changes of their skin and bones, such as stretch marks, bone injuries (such as fractures), bone deformities, and joint problems. Check your skin while taking PROCYSBI. Tell your doctor if you notice