Learn About Primary Hyperoxaluria

What is the definition of Primary Hyperoxaluria?

Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.

Save information for later
Sign Up
What are the causes of Primary Hyperoxaluria?

Mutations in the AGXT, GRHPR, and HOGA1 genes cause primary hyperoxaluria types 1, 2, and 3, respectively. These genes provide instructions for making enzymes that are involved in the breakdown and processing of protein building blocks (amino acids) and other compounds. The enzyme produced from the HOGA1 gene is involved in the breakdown of an amino acid, which results in the formation of a compound called glyoxylate. This compound is further broken down by the enzymes produced from the AGXT and GRHPR genes.

How prevalent is Primary Hyperoxaluria?

Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases.

Is Primary Hyperoxaluria an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Primary Hyperoxaluria Local Doctors?
Learn about our expert tiers
Learn more
What are the latest Primary Hyperoxaluria Clinical Trials?
A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-Term Administration of ALN-GO1 in Patients With Primary Hyperoxaluria Type 1

Summary: The purpose of this study is to evaluate the long-term safety and tolerability of lumasiran in patients with Primary Hyperoxaluria Type 1.

Match to trials
Find the right clinical trials for you in under a minute
Get started
ILLUMINATE-A: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study With an Extended Dosing Period to Evaluate the Efficacy and Safety of Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1

Summary: The purpose of this study is to evaluate the efficacy and safety of lumasiran in children and adults with primary hyperoxaluria type 1 (PH1).

Who are the sources who wrote this article ?

Published Date: December 01, 2015Published By: National Institutes of Health

What are the Latest Advances for Primary Hyperoxaluria?
Improving Treatment Options for Primary Hyperoxaluria.
ePHex: a phase 3, double-blind, placebo-controlled, randomized study to evaluate long-term efficacy and safety of Oxalobacter formigenes in patients with primary hyperoxaluria.
Tired of the same old research?
Check Latest Advances
The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants.