Pharmaceutical companies are supporting genetic testing initiatives to identify individuals with primary hyperoxaluria, a rare genetic disorder that can cause kidney failure, notably in young patients. These programs aim to improve early detection and management of teh disease.

Two pharmaceutical firms, Alnylam pharmaceuticals, inc., which produces Loss (Oxlumo), and Novo Nordisk, the maker of Nedosiran (Rivfloza), have partnered with genetic testing companies to offer these services. Alnylam collaborates with Prevention Genetics, a unit of Exact Sciences Corporation, to provide a free testing programme in the US and Canada. Novo Nordisk has a similar program with Blueprint Genetics.

According to Matthew Breeggemann, MD, a nephrologist and co-medical director of the UCSF’s Kidney Stone Prevention Clinic, these programs simplify the diagnostic process for physicians who suspect primary hyperoxaluria in thier patients.

The process is straightforward for patients.”The patient just swabs the inside of their cheek and then mails it back. And you can get results sometimes within 2, 3 weeks,” he told Medscape Medical News.

Importantly, Dr. Breeggemann emphasized that physicians are not obligated to prescribe a particular company’s medication if a patient undergoes testing through these sponsored programs.

“We take advantage of [these programs] to help our patients like we should, but it doesn’t mean you need to use that company’s drug – the ultimate choice is up to the patient and what is covered by their health insurance plan,” he said.

Understanding Primary Hyperoxaluria

“The patient just swabs the inside of their cheek and then mails it back. And you can get results sometimes within 2, 3 weeks.”

Primary hyperoxaluria type 1, the most prevalent form of the condition, is estimated to affect 1 to 3 individuals per 1 million people, although recent research suggests it could be more widespread.

In primary hyperoxaluria, the liver’s inability to properly regulate oxalate production leads to an overabundance of oxalate, which then combines with calcium in the kidneys, forming kidney stones. Over time, this buildup can cause arrhythmias, cardiac arrest, gangrene, and bone and joint issues.

Dr. Breeggemann noted that kidney stones in children can be an indicator of primary hyperoxaluria, as this is not typical. In adults, elevated urine oxalate levels detected in lab tests can also suggest the condition.

Other indicators include frequent kidney stone formation or a family history of kidney stones. physicians may also consider genetic testing in patients with kidney stones and unexplained chronic kidney disease, particularly if they do not have hypertension or diabetes, according to Dr. Breeggemann.

Advancements in Treatment Options

Historically, primary hyperoxaluria treatment options were limited to managing symptoms. This included high fluid intake to promote urine flow, citrate supplements to increase oxalate solubility, and Vitamin B6 prescriptions. In severe cases, patients underwent liver transplants or combined liver and kidney transplants, often requiring intensive dialysis.

Though, the treatment landscape has significantly improved. Alnylam’s Lumasiran was the first approved pharmaceutical therapy for primary hyperoxaluria, receiving approval in the US and EU in 2020.

Lumasiran is a small interfering RNA (siRNA) that inhibits oxalate production. In 2023, Novo Nordisk’s siRNA drug, nedosiran, also designed to reduce oxalate production, was approved in the US.

alnylam noted in a regulatory filing that several other companies are developing investigational agents for primary hyperoxaluria, including Biocodex, Inc., and YolTech Therapeutics.

Arbor Biotechnologies is also developing a drug candidate called Those-101,described as “a novel gene editing therapeutic” for primary hyperoxaluria type 1.