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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. Symptoms usually appear within a child’s first year of life.

  • Cystine crystals graphicIn 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 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 prevented

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 generally affects boys more than girls and most often occurs in blond-haired, blue-eyed children of European descent. However, people of all races and ethnic backgrounds can be affected. Its 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. Treatment can prevent or slow some effects, but existing damage cannot be reversed.

Body graphic

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.

Symptoms of Fanconi syndrome include:

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

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. A kidney transplant cures failure in the affected kidney, but not cystinosis. Post-transplant, patients must continue cystine-depleting therapy (CDT) to help delay or reduce new damage to other organs.

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.

How is cystinosis passed down?

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.

Eden, a cystinosis patient, with family image

There are 3 types of cystinosis:

  • Infantile nephropathic cystinosis
  • Intermediate 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 treatment is noticeable, even if you may not notice it yourself. Testing shows how CDTs are working inside your body, and what is happening with your cystine levels. CDTs lower cystine levels, which is why it’s important that you take a CDT on time and as prescribed, even if you look and feel fine. Work with your healthcare team to plan a schedule for cystine level testing. Find out more details about cystine level testing.

One medical study showed that people who took their doses of cysteamine therapy on time had lower average cystine levels compared with people who missed a dose or took their medicine late, who had a 29% increase in cystine levels.

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

IMPORTANT SAFETY INFORMATION

PROCYSBI® (cysteamine bitartrate)
delayed-release capsules

Who should not take PROCYSBI?

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

EXPAND CLOSE

What should I tell my doctor before taking PROCYSBI?

Before you take PROCYSBI, tell your doctor if you:

Tell your doctor about all medicines that you take, including prescription and over-the-counter medicines, vitamins, 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 heavy 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:

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.

The most common side effects with PROCYSBI include: vomiting, nausea, stomach (abdominal) pain, breath odor, diarrhea, skin odor, tiredness, skin rash, headache, and problems with body salts or electrolytes.

Tell your doctor if you have any side effect that bothers you or that does not go away. These are not all of the possible side effects of PROCYSBI. Call your doctor for medical advice about side effects.

You may report side effects to the FDA at 1-800-FDA-1088.

What is PROCYSBI (Pro-CIS-bee)?

PROCYSBI® (cysteamine bitartrate) delayed-release capsules is a prescription medicine used to treat a medical condition called 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.

IMPORTANT SAFETY INFORMATION

PROCYSBI® (cysteamine bitartrate)
delayed-release capsules

Who should not take PROCYSBI?

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

What should I tell my doctor before taking PROCYSBI?

Before you take PROCYSBI, tell your doctor if you:

Tell your doctor about all medicines that you take, including prescription and over-the-counter medicines, vitamins, 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 heavy 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:

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.

The most common side effects with PROCYSBI include: vomiting, nausea, stomach (abdominal) pain, breath odor, diarrhea, skin odor, tiredness, skin rash, headache, and problems with body salts or electrolytes.

Tell your doctor if you have any side effect that bothers you or that does not go away. These are not all of the possible side effects of PROCYSBI. Call your doctor for medical advice about side effects.

You may report side effects to the FDA at 1-800-FDA-1088.

What is PROCYSBI (Pro-CIS-bee)?

PROCYSBI® (cysteamine bitartrate) delayed-release capsules is a prescription medicine used to treat a medical condition called 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.