#AskMe Q&A With Dr. Stone on Primary Hyperoxaluria Type 1 (PH1)

Please view the entire video and see transcript below for Important Safety Information. For additional information on OXLUMO^® (lumasiran), please see full Prescribing Information.

Transcription:

Dr. Stone: My name is Hillarey Stone. I’m a pediatric nephrologist. And I’m going to be answering some questions today about primary hyperoxaluria type 1 (PH1).

What is primary hyperoxaluria type 1 (PH1)?

Dr. Stone: Primary hyperoxaluria type 1 or PH1 is a rare genetic disease that causes the body to produce too much oxalate, which can lead to a variety of symptoms such as kidney stones and kidney damage. Oxalate is a waste product that’s mostly removed by the kidneys through the urine. When PH1 advances and the kidneys aren’t working right, oxalate can collect in the blood, and it may even deposit in other organs causing injury and permanent damage. Patients with PH1 often work with multiple health care providers, including a nephrologist and a urologist.

What are some of the signs and symptoms of PH1, and how can it be diagnosed?

Dr. Stone: Frequent or recurrent kidney stones are the hallmark symptom of PH1 and can contribute to the long-term impacts of the disease. However, not all people with PH1 have kidney stones, and not all kidney stones are related to PH1. People who experienced frequent or recurrent kidney stones should talk to their doctor about being tested for PH1. If you think you might have PH1, it’s important to tell your doctor all the symptoms you’re experiencing and ask what tests you might need to confirm a diagnosis. Certain laboratory tests may help a doctor determine if someone has PH1. If your doctor suspects PH1, they may recommend a blood or a urine test to measure the amount of oxalate in your body. Your doctor may also recommend genetic testing. Genetic testing can be done using blood, saliva or a cheek swab to determine if you have the disease. If you are an immediate family member, such as a sibling of a person with PH1, talk with your doctor about whether genetic testing makes sense for you.

Are there FDA-approved therapies available for patients with PH1?

Dr. Stone: One FDA-approved option is called OXLUMO or lumasiran. OXLUMO is a prescription medication for the treatment of PH1 to lower oxalate in urine and blood in children and adults. OXLUMO is a subcutaneous injection administered by a doctor or by a nurse. The most common side effect of OXLUMO is injection site reaction, which can include redness, swelling, pain, bruising, itching and discoloration at the site of the injection. Each patient will respond differently to treatment with OXLUMO. Be sure to talk to your doctor about any and all side effects that you experience, and work with your doctor to determine the best strategy for disease management plan.

Please see full Prescribing Information.

Dr. Stone: I hope I’ve helped answer some of your questions about PH1. If you have additional questions, please talk with your healthcare team.