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Learn About Primary Hyperoxaluria Type 1

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?
Pierre Cochat
Elite in Primary Hyperoxaluria Type 1
Elite in Primary Hyperoxaluria Type 1
Groupement Hospitalier Est, 
Bron, FR 

Pierre Cochat practices in Bron, France. Mr. Cochat is rated as an Elite expert by MediFind in the treatment of Primary Hyperoxaluria Type 1. His top areas of expertise are Primary Hyperoxaluria, Nephrocalcinosis, Primary Hyperoxaluria Type 1, Kidney Transplant, and Liver Transplant.

Elite in Primary Hyperoxaluria Type 1
Elite in Primary Hyperoxaluria Type 1
Shmuel Bait Street 12, 9103102, 
Jerusalem, JM, IL 

Yaacov Frishberg practices in Jerusalem, Israel. Mr. Frishberg is rated as an Elite expert by MediFind in the treatment of Primary Hyperoxaluria Type 1. His top areas of expertise are Primary Hyperoxaluria Type 1, Primary Hyperoxaluria, Nephrocalcinosis, Calcinosis, and Kidney Transplant.

 
 
 
 
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Elite in Primary Hyperoxaluria Type 1
Elite in Primary Hyperoxaluria Type 1

Mayo Clinic

200 1st St Sw, 
Rochester, MN 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

John Lieske is a Nephrologist in Rochester, Minnesota. Dr. Lieske is rated as an Elite provider by MediFind in the treatment of Primary Hyperoxaluria Type 1. His top areas of expertise are Kidney Stones, Nephrocalcinosis, Primary Hyperoxaluria, Kidney Transplant, and Lithotripsy. Dr. Lieske is currently accepting new patients.

What are the latest Primary Hyperoxaluria Type 1 Clinical Trials?
BONAPH1DE, A Prospective Observational Study of Patients With Primary Hyperoxaluria Type 1 (PH1)

Summary: The purpose of this study is to describe the natural history and progression of patients diagnosed with PH1, and to characterize the long-term real-world safety and effectiveness of lumasiran.

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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)

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

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