Claire, diagnosed with PH1

What Are The Symptoms Of PH1?

People with PH1 often experience the formation of oxalate stones throughout the urinary tract and kidneys.
When a person with PH1 has a kidney stone, symptoms can include:

  • Flank pain
  • Painful urination
  • Urinary tract infections
  • Blood in the urine

Some individuals are not diagnosed until after their kidneys have failed and they require dialysis to help filter waste products from the blood.

Ph1 Inside The Body

Disease Onset & Progression

Patients can be diagnosed with PH1 at any age, but most individuals experience their first symptoms in early childhood.

For many patients, PH1 is not diagnosed immediately. Since kidney stones in adults are more commonplace, adult patients with PH1 often spend many years undiagnosed until they present with severe kidney disease.

As PH1 progresses, it often results in end-stage renal disease, a life-threatening condition that prevents the kidneys from filtering fluids and waste from the body effectively.

Consequently, the build-up of oxalate can lead to the deposition of oxalate crystals in the eyes, bones, skin, heart, and central nervous system, causing diminished vision, bone fractures, ulcers, heart failure, and other complications.

Understanding PH1: One family’s story

Three of Jared and Natalie’s four children were born with PH1. Hear from Claire and Benson about what it’s like to live with this rare inherited disorder.


The Skinners – Living with Primary Hyperoxaluria Type 1 (PH1)

Take On PH1™
Take On PH1™

Take on PH1 is dedicated to helping patients and their caregivers learn about primary hyperoxaluria type 1 (PH1) and navigate the challenges of living with this condition.

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Alnylam Act®

Alnylam Act® provides no-charge, independent genetic testing and counseling to individuals in the US and Canada who may have primary hyperoxaluria type 1 (PH1).

Clinical Trials
Clinical Trials

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Science Of RNAi
Science Of RNAi

RNA interference marks a revolution in biology built on Nobel Prize-winning research.


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  7. Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N. Epidemiology of primary hyperoxaluria type 1. Nephrol Dial Transplant. 1885;10(Suppl 8):3-7.

  8. Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013,369:649-658.

  9. Harambat J, Fargue S, Acquaviva C, et al. Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010;77:443–449.


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