Cystinosis Kids Are Living Time Bombs Without Meds

March 9, 2012— -- For most of their young lives, Jenna and Patrick Partington have lived by the alarm clock -- seven foul-tasting pills at 7 a.m., then again at 11 a.m., 7 p.m. and 11 p.m. If they are a little late or miss a dose, their bodies turn into time bombs, destroying every organ.

The 7-year-old twins from Sacramento, Calif., were born with cystinosis, a rare genetic disease that causes an amino acid, cystine, to accumulate in every cell of the body, damaging the kidneys, eyes, liver, muscles, pancreas, brain and white blood cells.

The only treatment is the drug Cystagon, which must be taken every six hours without fail, otherwise cystene dangerously accumulates in the body.

Without it, the average child will die of end-stage kidney failure by age 9. And even with treatment, many only live into their 20s and 30s.

"We take it day by day," said their father, Kevin Partington, 43, who works in commercial real estate. "I look at their pictures and they don't look that wildly different from their classmates. But the disease takes hold over a period of time."

Only about 300 to 500 patients in the United States have cystinosis -- about 2,000 worldwide, according to the Cystinosis Research Foundation (CRF). Because it is a so-called "orphan disease," there is little financial incentive for pharmaceutical companies to find better treatments or a cure.

But today, the twins are among 41 patients who were part of phase-three clinical trials for a new formulation of the active ingredient in Cystagon that is time-released.

Raptor Pharmaceuticals will file with the Food and Drug Administration for fast-track approval of a new drug, RP103, this month. It could reach the market by the end of the year.

Patients can take the medicine every 12 hours instead of every six, no longer disrupting sleep and school.

It also has fewer side effects like nausea and gastric discomfort, because the medicine bypasses the stomach and goes directly into the duodenum.

"There's also more of a fudge factor," said Partington. "Before I would set the alarm for 1 and 7 and it beeped off and we were like Pavlov's dog. Now, it's breakfast and dinner time."

The CRF approached Raptor about marketing the drug, which was being developed at University of California, San Diego, to lengthen the time between drug doses. Scientists have seen a direct correlation between the difficult medication regimen and patient health outcomes.

"I was at a research meeting with a parent panel and they talk about the strategy around dosing meds," said Patrick Reichenberger, vice president of commercial operations for Raptor.

"Sunday night they have the syringes, the baggies, the day, the time mapped out for the whole week. I saw a table of the logistics. It's no wonder people miss doses because of the complexity."

Patients in the cystinosis clincial trials have reported less nausea, an increase in appetite and higher energy levels because they were not woken in the night. "Sleep deprivation is huge in growing kids," Reichenberger said.

The new drug is coated so it doesn't dissolve in the acidic environment of the stomach, but further in the intestinal tract.

RP103 is not a cure, but promising research is on the horizon. Stem cell and gene therapy are "the biggest source of our optimism," said Partington, the twins' father.

Diagnosis of the rare disease is one of the biggest challenges, according to Partington, because so few doctors have seen patients with the disease.

The twins were born on Dec. 7, 2004, slightly premature, but seemingly healthy. When they were around 6 or 7 months old, the babies began to drink "tons of water" and throw up.

"I've been around kids my whole life, and there is a difference between spitting up milk and a kid that looks like he's from the Exorcist," he said.