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ADDITIONAL RESOURCES ON PH1

Find links to advocacy organisations, information on testing and research resources, and primary hyperoxaluria type 1 (PH1) educational materials below.

TESTING AND DISEASE INFORMATION

One option for genetic testing for PH1

Alnylam Pharmaceuticals sponsors third-party genetic testing and counselling for individuals who may carry gene mutations known to be associated with PH1.

DOWNLOADS AND VIDEOS

Videos

When kidney stones may be a sign of something more serious1

Learn about when a systemic condition may be behind kidney stone formation and how genetic testing can help confirm a diagnosis.1

PH1 mechanism of disease

Learn how genetic mutation leads to PH1 and its complications1,2

Patient perspectives: Zoe describes life with PH1

After a history of kidney stones, a serious health event led to Zoe’s diagnosis of PH1. Watch Zoe explain what her genetic disease means for her and her family.

Patient perspectives: Margarita describes her son’s journey to a PH1 diagnosis and beyond

Margarita knew something was wrong with her son, Mario, when he was three years old. Following his PH1 diagnosis, Margarita became a founding member of APHES, a PH1 patient association in Spain.

Reference materials

PH1 Brochure

When kidney stones may be a sign of something more serious. An overview of this metabolic stone disease.
Download

Can you spot the signs of PH1?

A one-page infographic detailing the signs of hyperoxaluria.
Download

PH1 handbook for patients

A guide booklet for patients to help them manage life with PH1.
Download

PH1 guide for caregivers

A helpful guide for caregivers of children with PH1.
Download

PH1 information sheet

A single-page handout for patients to share with others to help them understand PH1.
Download

How to diagnose PH1

Information about the PH1 hallmark clinical signs, the additional investigations to be carried out and the recommended procedure in case of hyperoxaluria.
Download

Quick guide to genetic disorders of urolithiasis

Information about diagnosing genetic disorders of urolithiasis, including key signs and a kidney stone composition analysis. Produced in collaboration with a nephrologist and a urologist.
Download

ADVOCACY AND PROFESSIONAL ORGANISATIONS

Oxalosis & Hyperoxaluria Foundation (OHF) Logo

Oxalosis & Hyperoxaluria Foundation (OHF)

OHF supports clinicians and patients in the hyperoxaluria community through education, advocacy, and grants and funding for research.
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European Hyperoxaluria Consortium OxalEurope Logo

European Hyperoxaluria Consortium OxalEurope

OxalEurope serves as a hyperoxaluria-centered consortium providing clinical guidelines for screening, guidance, diagnosis, and treatment for PH1.

Testing patients for PH1

See how genetic testing plays an important role in a PH1 diagnosis.1,3

Testing Options

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References: 1. Milliner DS, Harris PC, Sas DJ, et al. Primary hyperoxaluria type 1. GeneReviews® [Internet]. Updated 15 August 2024. Accessed January 2025. https://www.ncbi.nlm.nih.gov/books/NBK1283/ 2. Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649–658. 3. Cochat P, Hulton SA, Acquaviva C, et al. Nephrol Dial Transplant. 2012;27(5):1729–1736.

PH1-INTR-00024 | January 2025

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PH1-INTR-00025

January 2025

Alnylam Pharmaceuticals is responsible for the funding and content of this website. The site is intended for Healthcare Professionals in Europe, Middle East and Africa. For disease awareness purposes only.

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