Thursday, April 26, 2018

CRF Day of Hope 2018




This year’s Day of Hope Family Conference was an enormous success.  We had 61 families from all over the world attend this year.  There were families from Australia, Sweden, Norway, Ireland and Canada.  We were excited to welcome 16 new families, ranging from newly diagnosed infants to adults. 

On Thursday night we all got together for introductions.  We all shared a little bit about ourselves, as well as our wishes and hopes.  Everyone expressed hope for a cure for cystinosis, but also that no matter what happens, that those affected by cystinosis will not feel limited or defined by their disease, and that everybody would lead happy, healthy lives.  After introductions we had delicious Mexican food, something I’ve come to look forward to every year.  Our boys chowed down on chicken quesadillas while their friend, Henry Sturgis, ate his weight in chocolate-covered churros.  It was the perfect venue for catching up and getting to know the new families.

On Friday morning we got started bright and early.  Nancy Stack updated us on the amazing progress of the Cystinosis Research Foundation.  Altogether the foundation has raised over $40 million for cystinosis research since its inception in 2003, funding 164 studies in 12 different countries.  It’s pretty remarkable that such a vibrant research community has sprung up around such a rare disease.  After Nancy spoke it was my privilege to go over the basics of cystinosis at the cellular and organ levels.  

Dr. Paul Grimm from Stanford spoke about the genetics of cystinosis.  There are over 100 different mutations identified in cystinosis.  The most common is the 57kb mutation, which affects 50-75% of people of Northern European descent.  What mutations you have determines a lot about how cystinosis manifests.  Some people have very severe Fanconi syndrome, while others have very severe corneal disease.  Some people don’t sweat or tolerate heat very well.  If you have the 57kb mutation, you also have a mutation in the receptor that detects heat from hot chili peppers.  This endows you with the ability to eat very spicy foods. 

Dr. Grimm also talked about the upcoming Phase 2 trial for a drug called ELX-02 that may allow people with nonsense mutations to make a functional cystinosin protein.  It will be administered as an injection, given 2-3 times a week, and may eliminate the need for cysteamine therapy.  If you have the nonsense mutation, you should check it out!  Dr. Grimm also pointed out that most people in the United States don’t get genetic testing because it’s usually not covered by insurance.  If you would like to get your genetics done, there are companies like www.invitae.com that charge about $200 to run your mutation.  They will even work with your insurance company to try to get it covered.

Dr. Ranjan Dohil from UC San Diego spoke about the gastrointestinal effects of cystinosis.  He showed us his research on how cysteamine itself causes many of the GI symptoms, including a surge of stomach acid production, nausea, and delayed gastric emptying.  He also talked about the research that led to delayed-release cysteamine, or Procysbi.  He emphasized that fatty foods significantly decrease absorption of Procysbi, which is one of the reasons it’s important to fast before and after.  Although the package insert says to fast two hours before and thirty minutes after, he said everyone needs to adjust to their own schedule, lifestyle and needs.  Some people may need to wait longer than 30 minutes before eating, if they have delayed gastric emptying.  Everyone’s dose will have to be titrated individually.

Dr. Robert Mak from UC San Diego shared his research on muscle disease in cystinosis.  He has discovered an inflammation pathway that appears to be implicated in muscle wasting and bone disease in cystinosis.  He has found two drugs that block this pathway.  In cystinosis knockout mice, these drugs improve bone and muscle mass dramatically.  He is hopeful to move forward on a clinical trial in humans.

Dr. Kathleen Rickert was a welcome new face this year.  She is an orthopedic surgeon from UC San Diego.  Although she has not previously seen patients with cystinosis, she has started a collaborative clinic with Dr. Mak at UCSD to see children and adults with bone deformities.  She reviewed the common bone complications in cystinosis, including bowleggedness and knock-knees, and the different medical and surgical ways to manage them.  She recommended getting X-rays periodically to monitor progression of the deformities.  I look forward to hearing again from her in the future.

Rachel Duong from Massachusetts General Hospital shared results from a study by Dr. Florian Eichler on muscle complications in adults with cystinosis.  They used several validated surveys to measure symptoms of muscle weakness and trouble swallowing, and then various tools including grip strength, peak air flow and video swallow evaluations to evaluate the extent of muscle disease.  They found that 14 out of 20 patients reported symptoms of weakness, while 17 patient demonstrated weakness on exam.  They also found that while 12 out of 20 expressed having trouble swallowing, only 6 actually showed evidence of abnormal swallowing on video fluoroscopy.  They will bring these 20 people back in a year to repeat the tests to measure progression, and train them on some potential exercises they can do to improve muscle function.

Dr. Julian Midgley, from Alberta Children’s Hospital in Calgary, Canada, spoke to us about the important and complex process of transitioning from pediatric to adult care.  In his unique practice, he is actually allowed to see both children and adults with cystinosis.  He recommended starting early and planning ahead; don’t till the child’s 18th birthday.  It will be different for each child and each family, and should be tailored to the patient’s needs. 

Dr. Morgan Fedorchak from University of Pittsburgh spoke to us on a new controlled-release eye drop she is developing.  She uses a thermo-responsive hydrogel that turns from liquid to solid when it touches the eye.  The gel is filled with microspheres loaded with cysteamine.  She has found that cysteamine is a much harder drug to deal with than other drugs she has used, which has required a lot of additional testing and trouble-shooting.  Her initial testing has found that the drug is detectable in rabbit eyes after 24 hours, so hopefully it can be given once a day. Next she plans to test them in cystinosis knockout mice.

Dr. Sergio Catz from Scripps Research Institute spoke to us about his research on chaperone-mediated autophagy.  There is a receptor called LAMP2A that recognizes which proteins need to be degraded in the lysosome, and facilitates the internalization of these proteins.  In cystinosis cells, this receptor is not located in the lysosomal membrane, which leads to a build up of proteins outside the lysosome.  This is not corrected with cysteamine.  He is collaborating with another scientist, Ana Maria Cuervo, who has discovered a compound, QX77 (also called CA77), which corrects this defect, and improves cellular trafficking, autophagy and response to external stress.  He is testing this compound in cystinosis knockout mice, and looking at the kidneys and eyes.  He has also discovered that there are high levels of inflammatory proteins from neutrophils (white blood cells that fight infection) in the serum of cystinosis knockout mice.  He has found a compound that blocks secretion of these proteins in cells and he plans to test this compound in cystinosis knockout mice next.

After Dr. Catz, we heard from Dr. Stephanie Cherqui on the upcoming Phase 1-2 clinical trial for autologous hematopoietic stem cell transplant.  She is hoping to submit the IND application to the FDA this summer, and recruit the first patients this year.  Eligible patients must be over 18 years old and have good organ function.  They can have a kidney transplant, but must be at least 12 months out from transplantation.  Interested candidates will come to San Diego and go through 2-4 days of screening and information.  They do not have to commit at that point.  If they decide they want to do it, they will come back for 8-9 days for a full, intensive examination, which will include evaluation of kidneys, eyes, lungs, heart, endocrine glands, muscles, bones and neurologic function and quality of life.  If they are deemed healthy enough to participate, they will undergo stem cell harvest.  Blood is taken and sent to UCLA.  At this point the patient goes back home.  At UCLA the stem cells are modified with a lentivirus vector, which takes about 60-90 days.  Once this process is complete, the patient returns to San Diego to get the transplant.  This consist of single agent chemotherapy (busulfan) to make room in the bone marrow.  Then the modified stem cells are infused back into the patient.  The following month is the riskiest part, as the chemotherapy wipes out your immune system and makes you susceptible to infections.  The patient will have to remain in the hospital for one month until the bone marrow recovers.  After that they will remain in San Diego for two additional months, with weekly check ups.  Then they can go home, but will return every 6 months for 2 years to be evaluated.  If things go well for the first four patients, then the hope would be to do it in adolescents, over 14 years old.  I’m very hopeful the trial can start this year.  Cross your fingers!

Dr. Bruce Barshop spoke about the new granulocyte cystine test.  He showed data demonstrating that overall the newer test has much less variability than the mixed leukocyte test.  The goal for the granulocyte cystine test is less than 1.9.  The goal for the mixed leukocyte test is less than 1, although that number is apparently a little arbitrary and is based on upper limit of normal for carriers.  He unveiled a new shipping kit that will be available soon through Horizon, which will hopefully make the packaging and shipping process much easier.  If you’d like a kit, contact your Horizon representative.

Next we heard from Dr. Patrice Rioux and Dr. Vince Stanton from Massachusetts.  They have formed a company, Thiogenesis Therapeutics, and are working on developing a better form of cysteamine.  They modified cysteamine by adding a molecule to form a new compound.  This compound is metabolized in the gut, where some cysteamine is absorbed, but some is left in the GI tract, where it continues to be metabolized and absorbed further downstream.  This results in a much lower peak concentration (which will reduce the side effects of odor and nausea) and a more sustained blood level of cysteamine.  They found that a large reservoir also ended up in the colon of mice, where it continued to be absorbed.  This may result in a medication that could be taken once or twice a day, with better efficacy and fewer side effects than Cystagon or Procysbi.  They are hoping to move forward with a study, possibly in Australia, to test toxicity in humans.

After a long day of talks we were ready to get outside and have dinner.  The CRF arranged for buses to transport us to the Back Bay park and beach, where we enjoyed a fabulous barbecue feast.  My kids were super excited for the return of the light up cotton candy wands.  After gorging themselves on macaroni and cheese and brisket, they ran down to the beach to start a lightsaber battle.  I had to sample every dessert, which included fresh donuts and made-to-order ice cream cookie sandwiches.  I think I gained 10 pounds.  It was a beautiful setting and a great night to relax. 

On Saturday we heard first from Dr. Mary Leonard, from Stanford.  She and Dr. Grimm did a study looking at bone health in children and adults with cystinosis.  They did a number of tests, including strength testing, DEXA and high resolution peripheral quantitative computed tomography to analyze the muscles and bones.  They found that kids with cystinosis have 32% lower leg strength than healthy controls, and adults have 35% lower strength.  Muscle force was 25% lower in kids with cystinosis, and 13% lower in adults.  The cortical bone was thinner and had lower surface area, and had a 19% lower failure load.  Amount and thickness of spongy bone was lower as well. 

Next Dr. Paul Grimm spoke again, this time about juggling the many aspects of cystinosis care, especially in younger children.  He talked about the importance of regular dosing of supplements for Fanconi syndrome, especially phosphorus, potassium and bicarbonate/citrate.  He also talked about important medication interactions.  Calcium should not be given with phosphorus (neither will get absorbed).  Procysbi should not be given with bicarbonate (the high pH will dissolve the beads prematurely).  Citrate and bicarbonate should not be combined (it causes a fizzy chemical reaction, which is a good recipe for burping).  He talked about indomethacin, and using it to reduce fluid and electrolyte losses. 

The next talk was from Dr. Doris Trauner from UCSD.  I missed her talk, but she reported her results on a study of adults with cystinosis for sleep apnea and its possible connection to memory troubles.  The majority of adults tested had sleep apnea, half of which had moderate to severe sleep apnea.  This was previously undiagnosed, which suggests that all adults would benefit from being screened.  She is still actively recruiting patients to undergo overnight sleep studies. 

While Dr. Trauner gave her talk, Dr. Grimm and Dr. Dohil met with the adults with cystinosis, and I met with the kids ages 11-14.  For me it was very eye-opening to hear these young kids talk openly about their challenges.  It was also cool to see how much they support each other.  I hope we can have another session next year.

After the last session we had a question and answer panel with all our researchers and physicians.  Following that we had a question and answer panel with our adults with cystinosis.  They talked about how they had overcome many of the challenges of cystinosis and living with a chronic illness.  They talked about working, staying active, being compliant with medications, and how to live a full life.  Every year I hear from them I am inspired by their courage and hope.

Saturday night we reconvened for the Natalie’s Wish gala.  We enjoyed the great entertainment and gourmet dinner (including a unicorn cheesecake with edible glitter!), and were blown away by the generosity of the attendees.  We had 25 families present checks to the CRF this year, raising $668,000.  Altogether the CRF raised an incredible $3.5 million.  The best part is that all that money will go directly to research.  We left the conference so full of hope, and so grateful for everything the Stack family and the CRF are doing to improve the lives of those with cystinosis.  I look forward to seeing everybody again next year.  And if you’ve never been to the conference and want to come, please reach out to the CRF.  We’d love to see you there next year!

Wednesday, September 6, 2017

Thank you




Some amazing businesses have generously donated to our silent auction.  We are incredibly grateful for their support.  Every dollar raised will go to medical research to help find a cure for cystinosis. 

Visit Instagram @samshopeforacure for details and to bid on Sept. 8th from 9am - Sept. 9 at 9pm.

Missy Wallace Art - several butterfly prints
Copper Fox Lettering - hand lettered quotes
Arctic Circle - $50 gift card
The Dodo Restaurant - 2 $20 gift cards
Boondock's - 2 adult day passes
Porcupine Pub & Grille - 2 $20 gift cards
Rio Grande Cafe - 2 $20 gift cards
Cactus & Tropicals - $50 gift card
Stephanie Ransom - 4 pillow cases
Alpha Smoot - Framed photograph
Sonnet James - $150 gift card
Pop Chart Lab - 100 Essential Novels Scratch-Off Chart
Madsen Cycles - $400 gift card for a full price item
Courtney Bodily Photography - Family photo session
Adobe - 1 year photoshop prescription 
Dan Ransom - Canyoneering photograph on canvas
Cous Cous Grill - $25 gift cards
Andrea Aiko Tingey - Foot Zone
The School of Dance - 1 month of dance classes (1hr/wk), Sweatshirt, water bottle, dance bag
Hale Center Theater (West Valley) - Tickets to Aida
Epic Inc. - Four prints
Hale Center Theater Orem - Tickets to a show
Gathre - changing mats
Elase - Glycolic peel
Altra Running - several gift cards
Ruth's Chris - gift cards
Cerulean Studios - temple giclee 
Cinemark - 2 tickets
Piper & Scoot - Dress
Mary Ann Franson - Tuacahn tickets to Mamma Mia
Zach Proctor - Mother and child art piece
Luscious Lips by Whitney - Lip starter kit
Tsunami Restaurant - $75 gift card
Krissi Cook Films - photography session
The Front - 10 climbing passes
Erin Wilson Design - custom baby stats art piece 
Maryn Tan - family photoshoot
Kim Holmes- dental basket

MORE TO COME!





















Thursday, August 24, 2017

We will no longer be holding a 5k at Draper Park on September 9th. The good news though is that the silent auction will continue!  Follow @samshopeforacure to bid.  

Thursday, May 4, 2017

Medications of Cystinosis

When our older son Samuel was first diagnosed with cystinosis, we were overwhelmed by the many new medications that he was prescribed.  Here is a cheat sheet with some basic facts about many of the medications that you or your child may be prescribed for cystinosis.  I did not include transplant medications.  As always, if you have concerns or questions about medications prescribed to you, talk to your doctor or your pharmacist.

Cysteamine: This is the game-changing drug that was discovered in 1976 and approved by the FDA in 1994, that slows disease progression.  Cysteamine enters every cell of the body and binds to cystine molecules so that they can get out of the lysosome.  Cysteamine comes in two varieties, Cystagon and Procysbi.  Cystagon was the original form of the drug and must be taken every 6 hours to be effective.  Its common side effects include nausea, vomiting, abdominal pain and a sulfur smell.  Its absorption is decreased if taken with protein and fatty foods.

Procysbi was developed with funding from the Cystinosis Research Foundation and was approved by the FDA in 2013.  It contains the same active drug as Cystagon, but it is encapsulated in acid-resistant beads that do not dissolve until they arrive in the small intestine, where the pH is more alkaline.  This prevents the drug from being rapidly absorbed in the stomach.  The delayed absorption makes it possible to take every 12 hours.  Bypassing the stomach also tends to improve some of the side effects for some patients, including dyspepsia and nausea.  I’ve found that the smell is still there regardless of which drug you take, but some patients find one is better than the other.  The most important thing with Procysbi is that its absorption is affected by food, so you should take it on an empty stomach.  The package insert says to not eat for 2 hours before taking it, and to wait an additional thirty minutes before eating again.  You can take it with an acidic food like orange juice because the beads are resistant to acid.   You should not take the pills with alkaline foods like milk because the beads will dissolve prematurely and the drug will not have delayed absorption. 

Cysteamine eye drops:  These drops contain the same drug as the pills, but since the cornea does not have blood vessels, the oral version of the drug does not treat corneal crystals.  The drops should be administered every hour that the patient is awake to be most effective, but few patients are able to achieve this frequency.  Side effects include eye irritation, eye pain, and headaches.  Many people have reactions to the preservative in the drops, benzalkonium chloride.  It is currently the only approved therapy in the United States for corneal cystinosis.  Other countries have eye gels, and some pharmacies will compound eye drops. 

Potassium: People with cystinosis lose many electrolytes, including potassium, in their urine because of Fanconi syndrome.  Low potassium (hypokalemia) causes muscle weakness, muscle cramps and in severe cases can lead to cardiac arrhythmias.  Hypokalemia is made worse by vomiting and diarrhea.  Potassium can be replaced in a variety of formulations.  The most common form is potassium chloride, which is sold in its generic form or as Klor-Con, K-Tab or K-Sol (there are probably other names, too).  Every person needs a different amount of potassium replacement based on their labs.  Potassium is also available in combination with other essential medications, including citrate and phosphorus.  Side effects include nausea and abdominal discomfort.

Citrate: People with cystinosis lose bicarbonate in their urine, and this leads to more acid in the blood (acidosis).  The extra acid is buffered by bone, which leads to poor growth, bone resorption and soft bones (osteopenia).  This is corrected by taking a medication like citrate.  Citrate is taken up in the liver and converted to bicarbonate.  Citrate is combined with either potassium, sodium or both.  Potassium citrate is sold as Cytra-K, Virtrate-K, Polycitra-K and Urocit-K.  Some people get all of their potassium replacement from potassium citrate.  Sodium citrate is sold as Cytra-2, Virtrate-2, Oracit and Bicitra and does not have any potassium in it. Tricitrates, Polycitra and Cytra-3 have both potassium and sodium.   Citrate does bind calcium, so large doses can potentially lead to low calcium in the blood, which can cause tetany.  This may be exacerbated if taken with other medications that bind calcium, such as phosphorus.

Sodium bicarbonate: This is essentially baking soda, and can be taken as a tablet, or as actual baking soda in patients who cannot take or afford tablets.  Just like citrate, this medication increases serum bicarbonate levels to buffer the acids in the blood.  It may be used in place of citrate, or in addition to citrate.

Phosphorus: People with cystinosis lose phosphorus in their urine.  Phosphorus is essential for building bone, and low phosphorus (hypophosphatemia) leads to rickets, or soft bones.  Phosphorus is available in many formulations.  It is combined with sodium and potassium in Phos-NaK, K-Phos Neutral, K-Phos No. 2, Phospha 250 Neutral, Virt-Phos 250 Neutral and Av-Phos 250 Neutral.  It can also be prescribed as simply sodium phosphate or potassium phosphate.  Common side effects include diarrhea and nausea.  Large doses of phosphate taken at once can cause tetany by dropping serum calcium levels.

Carnitine: This is another molecule that is lost in the urine in people with cystinosis.  Carnitine is required for muscles to metabolize fat.  Lack of carnitine leads to accumulation of fat in muscle tissue and resultant myopathy (muscle disease).  Giving patients carnitine supplements reduces accumulation of fat in muscle tissue.  This drug is sold as Carnitor or Levocarnitine.

Vitamin D:  Normally we make vitamin D in our skin, with exposure to sunlight.  We can also get vitamin D from fortified foods, or from supplements.  If the supplement is from a plant, it's called ergocalciferol, or D2.  If it's from animals or our skin, it is called cholecalciferol, or D3.  Whether we make it in our skin or take a supplement, the vitamin D is modified by the liver to make 25-Vitamin D.  This form of vitamin D is then modified again by the kidneys, to make 1,25-Vitamin D, which is the active form.  This form is also called calcitriol, and it is required to maintain calcium and phosphate levels in the blood and promote bone growth and remodeling.  1,25-Vitamin D increases absorption of calcium and phosphate in the intestines.  Dr. Mak, a CRF funded researcher, has shown that 25-Vitamin D is important for muscle health.

Calcitriol: This is the activated form of vitamin D, also called 1,25-Vitamin D.  In people with chronic kidney disease, the kidneys lose the ability to convert 25-Vitamin D to the active form.  This drug may also be prescribed in patients with severe hypophosphatemia (low phosphorus) because it stimulates intestinal absorption of phosphorus.  

Iron: People with cystinosis may develop iron deficiency.  Iron is normally found in red meat, sea food, beans, spinach and peas.  Iron is an essential element for making hemoglobin, which is the protein in red blood cells that binds oxygen.  Lack of iron leads to anemia.  Iron may be taken as ferrous sulfate, ferrous fumarate and ferrous gluconate.   The most common side effect is constipation, and it may make stools darker. 

Thyroid hormone: Cystinosis causes thyroid disease through a few mechanisms, including cystine accumulation.  Symptoms of low thyroid (hypothyroidism) include fatigue, swelling, constipation, cold intolerance, coarse hair and skin.  Usually around age five to ten years, people with cystinosis require thyroid hormone replacement.  This is typically done with levothyroxine, which is an analog of thyroxine, or T4.  T4 is taken up by the body and converted to triiodothyronine, or T3, the active form of thyroid hormone. 

Growth hormone: Many people with cystinosis have growth failure and are treated with growth hormone.  This drug is usually given as a daily injection.  It must be given before the epiphyses (growth plates) fuse during puberty. 

Testosterone: Cystine accumulation and fibrosis in the testicles may lead to hypogonadism, and some boys may need testosterone replacement in order to progress through puberty.  This can be administered as an injection, implant, gel or patch.

Insulin: Insulin is a hormone produced by the pancreas to help cells take up glucose from the blood.  Many people with cystinosis develop diabetes mellitus as teenagers or later due to the effects of cystinosis on the pancreas.  These people have insufficient insulin production and require insulin therapy to maintain normal blood sugars.  Insulin is administered as an injection.  There are long acting forms of insulin, such as glargine, that are given once a day.  There are short-acting forms of insulin, such as lispro or aspart, that are given with meals.

Proton pump inhibitor: This class of medications includes esomeprazole, omeprazole, lansoprazole and pantoprazole, among others.  These medications lower the acidity of the stomach, which helps symptoms of acid reflux and stomach ulcers.  Many people are put on these medications to help with the side effects of other medications, including cysteamine.  Because these medications make the stomach less acidic, people taking Procysbi may want to avoid them.  Some research has shown that long term use of proton pump inhibitors is associated with increased risk of fractures, low magnesium levels, B12 deficiency and gastrointestinal infections.

ACE inhibitors: This class of medications includes lisinopril, benazepril, enalapril, fosinopril and others.  These medications affect the renin-angiotensin-aldosterone system, which regulates blood pressure, sodium and fluid status, and filtration through the kidneys.  These drugs are used primarily for high blood pressure and proteinuria (protein in the urine).  Most if not all people with cystinosis have protein in their urine.  Because of Fanconi syndrome, small proteins that are filtered through the glomerulus are not reabsorbed by the proximal tubule.  Research has shown that people with cystinosis also develop damage to the glomerulus, and this leads to leaking of larger proteins, like albumin, into the urine.  This usually manifests as foamy urine.  Over time this causes further damage to the kidneys.  ACE inhibitors can be used to reduce the amount of protein that leaks through the glomerulus by reducing the pressure on the filtering system.  Side effects include low blood pressure and high potassium levels.  Some people develop a chronic cough that usually resolves after stopping the medication.  Rarely people have a reaction in which the face or airway swells, called angioedema, and this is an emergency.  This drug should not be taken if you are dehydrated, as may occur with vomiting or diarrhea, because it can cause an acute kidney injury.  In patients who have proteinuria but cannot take an ACE inhibitor because of side effects or allergy, another class of medications, called angiotensin receptor blockers, or ARBs, can be used.  This class includes losartan, valsartan, irbesartan and others.

Spironolactone: This medication blocks the effects of a hormone called aldosterone.  It is a weak diuretic and can cause dehydration and low blood pressure.  Its main side effect is that it raises potassium levels, which may be beneficial in people with cystinosis.  It also reduces the amount of protein that leaks into the urine, and may be prescribed for this purpose.  Other side effects are related to its anti-androgen properties; it can cause menstrual irregularities and breast tenderness/enlargement in men and women.  Other related medications include amiloride and eplerenone. 

Indomethacin: This is a non-steroidal anti-inflammatory drug (NSAID) related to ibuprofen and naproxen.  Indomethacin reduces the amount of blood that filters through the kidneys, which results in less urine production.  The drug is used to reduce polyuria and improve electrolyte retention.  Its use is controversial in people with cystinosis because NSAIDs are toxic to the kidneys and can worsen renal failure.  There is some new data, however, that indomethacin may actually be protective in cystinosis.  You should not take this medication if you are dehydrated, as may occur with vomiting and diarrhea, because it can cause an acute kidney injury.  This drug can also cause ulcers in the stomach and duodenum, so a proton pump inhibitor is usually prescribed with it to reduce acidity in the stomach.

Ondansetron: This drug is also known as Zofran, and was developed to treat nausea and vomiting associated with chemotherapy.  Other drugs in this class include dolasetron and granisetron.  Many people with cystinosis take this medication to treat the side effects of medications they take, including cysteamine.  Common side effects include headache and constipation.  This medication is known to cause QT prolongation on ECGs, which can lead to arrhythmias, so it is important for your doctor to review possible medication interactions before starting this drug.


Erythropoiesis-Stimulating Agents (ESA): The kidneys are responsible for monitoring oxygen levels and telling the bone marrow when to make more red blood cells.  As kidney disease progresses, this function is lost, and many people develop anemia.  There are drugs, including Epoetin alfa (marketed as Procrit or Epogen) and Darbepoetin alfa (marketed as Aranesp) that can be given to stimulate red blood cell production in the bone marrow.  These drugs are given as an injection.