At Orfan Biotech, we work to establish and build relationships within the hyperoxaluria community. We are committed to approaching these relationships with honesty, integrity and transparency.
We respect the independence of patient organizations and the unique perspective of every advocate, patient and family member.
We actively seek to include the perspective of patients, families and advocates in the drug development process by listening and learning from them.
For more information on patient advocacy, contact patientadvocacy@orfanbiotech.com
Oxalosis & Hyperoxaluria Foundation
Patient advocacy organization dedicated to finding treatments and a cure for all forms of hyperoxaluria
EveryLife Foundation
Patient advocacy organization dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy
Global Genes
Patient advocacy organization focused on connecting, empowering and inspiring the rare disease community
National Organization for Rare Disorders (NORD)
Patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them
Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder driven by a mutation in the AGXT gene, resulting in a reduction of AGT enzymatic activity in the liver. The reduction of AGT activity results in accumulation of glyoxylate, which is converted into oxalate and leads to kidney stones and organ damage.
More than 178 mutations have been identified leading to a significant decrease in AGT activity1,2.
GO = glycolate oxidase
AGT = alanine-glyoxylate aminotransferase
LDH = lactate dehydrogenase
PH1 is estimated to affect up to 5,000 individuals in the U.S. and Europe.
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The median age of diagnosis is 7-8 years, with ~25% diagnosed in infancy, ~50% in late childhood to early adolescence and the remaining in adulthood4
An estimated 43% have already progressed to end stage renal disease end stage renal disease (ESRD) at diagnosis4
PH1 disease progression is severe with a high degree of morbidity. Excess oxalate produced in the liver results in increased excretion by the kidney. Oxalate combines with calcium to form insoluble calcium oxalate (CaOx) that aggregates as kidney stones and calcification in the kidneys.
This can progress to ESRD, which exacerbates the accumulation of oxalate in the plasma and can promote deposition of calcium oxalate in many organs and tissues3.
PH1 is the most severe type of primary hyperoxaluria. The excess oxalate production that leads to kidney stones, chronic kidney disease, and systemic oxalosis strains both patients and caregivers given the frequent medical intervention required and associated financial burden. Patients with PH1 develop ESRD early in life and have reduced life expectancy with overall survival is currently estimated at 95%, 86%, and 74% at age 10, 30, and 50, respectively4.
Patients with PH1 often need to drink several liters of fluids a day, take daily pyridoxine and/or crystallization inhibitor therapy, and may require intensive dialysis. The only known curative treatment is a combined kidney-liver transplant to restore renal function and prevent further renal damage by restoring normal oxalate production in the liver1,5. A recent survey found that 94% of patients desired new therapies that reduced medical management and provided the chance to have a normal life span6.
Nearly one in 10 Americans experience a kidney stone in their life and many (20-50%) will develop additional stones in the subsequent 5 years. Frequent kidney stones are painful, associated with substantial medical care and cost, and may contribute to or accelerate progression to end stage renal disease3.
The majority (~80%) of kidney stones are composed of calcium oxalate (CaOx)3. Calcium oxalate stone formation is driven by several urinary components that influence the combination of calcium and oxalate into CaOx crystals. Hyperoxaluria, or excess oxalate concentrations in the urine, directly contributes to an increase in CaOx crystals that can attach to kidney tissues and aggregate to form kidney stones.
Small increases in urinary oxalate can cause an increase in CaOx stone formation, with the relative risk of forming a stone increasing by 2.5 to 3.5-fold as urinary oxalate excretion doubles from 20 to 40 mg/day4,5. Urinary oxalate is derived almost equally from diet and metabolic production in the liver6.
Lifetime prevalence of kidney stones (KS) in the United States is nearly 10% and has been rising. Similar prevalence rates are observed in Europe, ranging from approximately 5-10% depending on the region. Approximately 80% of stones are CaOx and 20-50% of patients will experience a recurrence within 5 years3,9.
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Kidney stones have historically been more common in men compared to women, though this disparity is lessening
Non-Hispanic white individuals have the highest prevalence among racial and ethnic groups
Prevention of recurrent calcium stones typically starts with behavioral or nutritional changes such as increasing water intake and balanced diets with high calcium and low oxalate. Such diets can be difficult to maintain due to the presence of oxalate in many common foods. Current guidelines for pharmacological treatments are limited and include thiazides (stone formers with hypercalciuria), allopurinol (stone formers with hyperuricosuria), and potassium or magnesium citrate (stone formers with hypocitraturia).
There are no approved treatments to address stone formers with hyperoxaluria. Current medical management is inadequate to prevent stone recurrence in many patients. There remains a significant unmet need for targeted pharmacological approaches in kidney stone disease.
Orfan Biotech is developing a novel small-molecule inhibitor of glycolate oxidase (GO). Targeting GO is a clinically validated approach to reduce urinary oxalate by lowering the concentration of glyoxylate, the immediate precursor to metabolic oxalate production in the liver.
Orfan Biotech was founded in 2017 with the aim of developing new therapies for diseases of hyperoxaluria.
Based on the initial discoveries of its scientific founder, Dr. Eduardo Salido at the University of La Laguna in the Canary Islands, Orfan Biotech has quickly developed new compounds for the treatment of primary hyperoxaluria and related conditions. Currently the focus of the company is the genetic, and rare, disease primary hyperoxaluria (PH1). A disease for which the only cure is a double kidney and liver transplant.
Orfan Biotech, an affiliate of BridgeBio Pharma, is led by veteran biotechnology executives whose objective is to partner with patients and physicians to develop a safe and effective treatment for hyperoxalurias as quickly as possible.
Vice President of Strategy and Operations
BridgeBio is a team of experienced drug discoverers, developers and innovators working to create life-altering medicines that target well-characterized genetic diseases at their source. BridgeBio was founded in 2015 to identify and advance transformative medicines to treat patients who suffer from Mendelian diseases, which are diseases that arise from defects in a single gene, and cancers with clear genetic drivers. BridgeBio’s pipeline of over 20 development programs includes product candidates ranging from early discovery to late-stage development.
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info@orfanbiotech.com
