Sometimes, it can be difficult to acquire treatment options for patients with rare diseases. Brand name products may also be expensive and relatively inaccessible, prompting the need for generic options. In case you missed it, a press release from Orsini Specialty Pharmacy (“Orsini”) in late July 2021 shared that generic tiopronin (sold under the brand name THIOLA) is now available in the United States. The treatment is an option for patients aged 9+ with severe homozygous cystinuria whose condition is not adequately treated through fluid intake, alkali, and changes in diet.

Tiopronin

So what exactly is tiopronin? WebMD describes tiopronin, offered in 100mg or 300mg pills, as:

[preventing] kidney stones in people with cystinuria, [which] occurs when there is too much of the amino acid cystine in the urine. Tiopronin works by making cystine more dissolvable in the urine.

Because the treatment is now being offered in a generic form, Orsini hopes that additional patients will be able to receive treatment and improve outcomes. Interested in learning more about tiopronin and its prescribing information? Check this out.

Cystinuria

SLC3A1 and SLC7A9 gene mutations cause cystinuria, a rare condition in which cystine accumulates in the bladder and kidneys. Normally, these genes help a certain protein complex reabsorb amino acids into the blood. But when these mutations occur, amino acids such as cystine are unable to be reabsorbed and instead accumulate, causing stones or blockages. If large stones form, the urinary tract can become totally blocked, causing a number of infections.

Although some symptoms can be present in infancy, many people do not see cystinuria manifest until between ages 10-30. An estimated 1 in every 7,000-10,000 Americans has cystinuria. Symptoms include:

• Sharp pain in the lower back or side of abdomen
• High levels of urinary cystine
• Frequent urinary tract infections
• Urinary “gravel”
• Hematuria (blood in the urine)
• Urinary tract obstructions
• Nausea
• Chronic or acute renal failure

Learn more about cystinuria here.