Know your cystinosis treatments

Caregiver of child with cystinosis preparing cystine-depleting medicine

Today there are medicines that can help you manage your cystinosis and may help delay or limit damage to your body. They are called cystine-depleting therapies (CDTs). There are also other options available to help you with other symptoms and issues related to cystinosis.

What is cystine-depleting therapy?

CDTs are medicines that work to lower the levels of cystine in the cells. Keeping cystine levels low is the main way to help limit or possibly delay damage to your body.

There are 3 FDA-approved CDT treatments. Two remove cystine from the body. One removes cystine from the eyes.

FDA-approved cystinosis treatments

Learn more about a cystinosis medicine that may be right for you

Cystinosis treatment schedule—same time every day

Careful management of cystinosis every day is key. Cystine is always being made in your cells even when you look or feel fine. Taking your medicines as prescribed can help keep cystine levels low throughout the day. If you happen to delay, miss, or stop taking your medicine, cystine levels can rise very quickly—in as little as 3 hours. And this can cause damage. One medical study showed that patients who took their doses on time had lower average cystine levels compared with patients who delayed dosing.

Learn about the importance of keeping cystine levels low

Tips for getting the most out of cystinosis treatment

  • Take your medicine at the same time each day
  • Set a regular alarm on your phone or personal device to help remind you to take your medicine
  • Write down when you take your medicine on a calendar or in a planner so you can track your doses
  • If you miss a dose, speak with your doctor or pharmacist. You can also refer to the packaging that comes with your medicine

Treating cystinosis symptoms

Cystinosis can lead to many health issues. This is especially true when cystine levels are not kept low. See the table below for common concerns and their treatments. Please speak with your doctor about any concerns you have, and work with your doctor to find the best treatment.

Concern

Possible Treatments
Note: Items with an * may be available over-the-counter at a drugstore. Items with a † need a prescription from your doctor.

Issues resulting from Fanconi syndrome
Limited ability to sweat; frequent peeing (urination) and thirst

Free access to water and toilets. Avoid spending too much time in the sun to help keep hydrated

Rickets (softening or weakening of bones)

Supplements to replace phosphate and vitamin D* (for example, calcitriol, calcidiol, alphacalcidiol, 1-alpha-hydroxycholecalciferol)

Loss of salt

Replacement with sodium potassium citrate* or sodium bicarbonate*

Loss of potassium

Replacement with potassium citrate* or potassium phosphate*

Loss of phosphate

Replacement with sodium or potassium phosphate*

Loss of alkali

Replacement with citrate or bicarbonate as sodium and potassium salts (polycitra, bicitra)

Loss of copper

Copper supplementation with chlorophyllin tablets*

Loss of carnitine

Replacement with L-carnitine*

Too much protein in urine

ACE inhibitors (enalapril). Should not use while taking indomethacin

Excessive loss of electrolytes and urination

Indomethacin. Should not use while taking an ACE inhibitor

Kidney failure and replacement
Kidney failure

Dialysis and kidney transplant

Kidney replacement

Antirejection medications

Hormone imbalance
Low thyroid hormone levels

Levothyroxin

Slow growth

Growth hormone (rhGH), adequate phosphate replacement, and good nutrition

Low testosterone levels

Testosterone supplementation

Diabetes

Insulin

Gastrointestinal complaints
Stomach acid and indigestion

Proton pump inhibitors* (for example, omeprazole)

*May be available over the counter.

Prescription only.

Kidney dialysis and transplant

Cystinosis causes harm to the kidneys that makes it difficult for the body to absorb important substances it needs and also causes large losses of fluid through peeing (urination). Over time, this harm results in the kidneys being unable to remove waste from the blood, leading to kidney failure. As the kidneys fail, dialysis or a kidney transplant is needed. Dialysis is a temporary treatment that does the job of the kidneys by removing waste from the blood.

Cystine-depleting therapy (CDT) can delay harm to your kidneys and the age you have a kidney transplant. Even after a kidney transplant, it is important to continue taking your CDT to protect the rest of your body from damage caused by cystine buildup. After the transplant, medicines are used to help keep the body’s immune system from rejecting the transplanted kidney.

Talk to your doctor about making a treatment plan for after a kidney transplant, including daily CDT and medicines for protecting your transplanted kidney.