Primary Hyperoxaluria Type 1
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Primary Hyperoxaluria Type 1 Overview

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What is the definition of Primary Hyperoxaluria Type 1?
Primary hyperoxaluria type 1 (PH1) is a rare disorder that mainly affects the kidneys. It results from buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium, forming the main component of kidney and bladder stones (calcium oxalate). Signs and symptoms of PH1 vary in severity and may begin any time from infancy to early adulthood. Symptoms may include recurrent kidney stones; blood in the urine; and urinary tract infections. PH1 is due to genetic changes in a gene called AGXT. Inheritance is autosomal recessive.
What are the alternative names for Primary Hyperoxaluria Type 1?
  • Primary hyperoxaluria type 1
  • Alanine-glyoxylate aminotransferase deficiency
  • Glycolic aciduria
  • HP1
  • Hepatic AGT deficiency
  • Oxalosis 1
  • Peroxisomal alanine glyoxylate aminotransferase deficiency
  • Serine pyruvate aminotransferase deficiency
Who are the top Primary Hyperoxaluria Type 1 Local Doctors?
Elite in Primary Hyperoxaluria Type 1
Elite in Primary Hyperoxaluria Type 1
Referral may be required
Groupement Hospitalier Est, 
Bron, FR 

Pierre Cochat practices practicing medicine in Bron, France. Mr. Cochat is rated as an Elite expert by MediFind in the treatment of Primary Hyperoxaluria Type 1. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Primary Hyperoxaluria, Nephrocalcinosis, Primary Hyperoxaluria Type 1, Kidney Transplant, and Liver Transplant.

Elite in Primary Hyperoxaluria Type 1
Elite in Primary Hyperoxaluria Type 1
Referral may be required
Shmuel Bait Street 12, 9103102, 
Jerusalem, JM, IL 

Yaacov Frishberg practices practicing medicine in Jerusalem, Israel. Mr. Frishberg is rated as an Elite expert by MediFind in the treatment of Primary Hyperoxaluria Type 1. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Primary Hyperoxaluria Type 1, Primary Hyperoxaluria, Nephrocalcinosis, Calcinosis, and Kidney Transplant.

 
 
 
 
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Elite in Primary Hyperoxaluria Type 1
Dr. John Lieske
Nephrology
Elite in Primary Hyperoxaluria Type 1
Dr. John Lieske
Nephrology
Referral may be required

Mayo Clinic-Rochester

200 1st St SW, 
Rochester, MN 
507-284-9991
Languages Spoken:
English
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John Lieske is a Nephrologist practicing medicine in Rochester, Minnesota. Dr. Lieske is rated as an Elite provider by MediFind in the treatment of Primary Hyperoxaluria Type 1. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Kidney Stones, Nephrocalcinosis, Primary Hyperoxaluria, Kidney Transplant, and Nephrectomy.

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What are the latest Primary Hyperoxaluria Type 1 Clinical Trials?
A Phase 1/2 Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of ABO-101 in Participants With Primary Hyperoxaluria Type 1 (PH1)
A Phase 1/2 Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of ABO-101 in Participants With Primary Hyperoxaluria Type 1 (PH1)
Enrollment Status: Recruiting
Publish Date: February 12, 2026
Intervention Type: Drug
Study Phase: Phase 1/Phase 2

Summary: The goal of the redePHine study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of ABO-101 in participants with primary hyperoxaluria type 1 (PH1). The trial will consist of 2 Study Periods. During the first Study Period, there will be 2 parts. In Part A, adult participants will be treated with a single ascending dose to identify a recommended dose. In Part B, pedia...

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A Phase 2 Open-Label Study to Evaluate the Safety and Efficacy of DCR-PHXC in Patients With Primary Hyperoxaluria Type 1 and Severe Renal Impairment, With or Without Dialysis
A Phase 2 Open-Label Study to Evaluate the Safety and Efficacy of DCR-PHXC in Patients With Primary Hyperoxaluria Type 1 and Severe Renal Impairment, With or Without Dialysis
Who is this study for: Patients with primary hyperoxaluria type 1 or 2 and severe renal impairment
Enrollment Status: Recruiting
Publish Date: December 24, 2025
Intervention Type: Drug
Study Drug: DCR-PHXC
Study Phase: Phase 2

Summary: The aim of this study is to evaluate DCR-PHXC in participants with PH1 and severe renal impairment, with or without dialysis.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center