Ongoing Clinical Trials for Primary Hyperoxaluria
There are currently 3 ongoing clinical trials investigating new treatments for Primary Hyperoxaluria, a rare genetic disorder that causes the overproduction of oxalate, leading to kidney stones and kidney damage. These studies are taking place across several European countries and are testing different approaches to reduce oxalate levels in patients aged 6 years and older, including those with severe kidney impairment.
Clinical trial locations
- Belgium
- France
- Germany
- Italy
- Netherlands
- Spain
Study on the Safety and Effectiveness of Nedosiran for Patients with Primary Hyperoxaluria and Severe Kidney Problems, Including Those on Dialysis
This trial is investigating nedosiran, also known as DCR-PHXC, for patients with Primary Hyperoxaluria Type 1 who have severe kidney impairment. The treatment is delivered as an injection under the skin and aims to reduce oxalate levels in the blood.
Who can participate: The study is open to patients of all ages, from newborns to adults, with a confirmed genetic diagnosis of Primary Hyperoxaluria Type 1. Participants must have severe kidney problems, with an estimated kidney function rate below 30 mL/min. Their plasma oxalate levels must be greater than 20 micromoles per liter. Those on hemodialysis or peritoneal dialysis can participate if they have been on treatment for 24 months or less with a stable treatment plan for at least 2 weeks. Both males and females are eligible, but participants of childbearing potential must agree to use effective birth control during the study and for at least 12 weeks after the last dose.
Who cannot participate: Patients who do not have a confirmed diagnosis of Primary Hyperoxaluria or who are outside the age ranges specified for the study cohorts cannot participate. Those who do not meet the kidney function criteria or are not part of the vulnerable population selected for this research are also excluded.
Study goals: The main focus is to evaluate how effective nedosiran is at lowering plasma oxalate levels over a 180-day period. Researchers will also monitor changes in kidney function, the presence of kidney stones, and dialysis requirements. The study aims to assess both the safety and tolerability of the treatment in this patient population.
Investigational drug: Nedosiran works as an RNA interference therapeutic, targeting specific genetic material to reduce the production of oxalate. By lowering oxalate levels, it may help improve kidney function and reduce complications associated with the condition.
Study on the Safety and Effects of ABO-101 with mRNA-002 and gRNA-001 for Patients with Primary Hyperoxaluria Type 1
This trial is testing ABO-101, an innovative gene therapy treatment for Primary Hyperoxaluria Type 1. The treatment uses advanced gene editing technology to target the HAO1 gene, which plays a role in oxalate production. ABO-101 is given as an intravenous infusion directly into the bloodstream.
Who can participate: The study includes different age groups across four cohorts. Cohorts 1-3 are for adults aged 18 to 64 years, while Cohort 4 includes children and adolescents aged 6 to 18 years. All participants must have a confirmed genetic diagnosis showing mutations in the AGXT gene. They must be able to provide 24-hour urine collections and have a certain level of urinary oxalate. Kidney function must be at least 30 mL/min/1.73m², and participants must weigh at least 40 kg. Those taking vitamin B6 for the condition must have been on a stable dose for at least 90 days. Participants must also have a history of kidney stones or calcium deposits in the kidneys. Both males and females must agree to use effective contraception during the study and for several months afterward.
Who cannot participate: Patients without a confirmed diagnosis of Primary Hyperoxaluria Type 1 or those outside the specified age ranges cannot join. Those who are unwilling to follow study procedures, have interfering medical conditions, are pregnant or breastfeeding, have recently participated in another trial, have allergies to the study medication, or have a history of substance abuse are excluded. Patients unable to provide informed consent are also ineligible.
Study goals: The primary aim is to assess the safety and tolerability of ABO-101. Researchers will measure changes in urinary oxalate levels and related substances in the blood to understand the treatment’s impact. The study will also track kidney function over time and monitor for any side effects.
Investigational drug: ABO-101 is a gene therapy that works by delivering a healthy copy of the defective gene responsible for the disorder. This helps the body produce the enzyme needed to break down oxalate, potentially reducing its harmful accumulation in the kidneys and other organs.
Study on Stiripentol for Patients Aged 6 and Older with Primary Hyperoxaluria Types 1, 2, or 3
This trial is evaluating stiripentol, taken as hard capsules by mouth, for patients with any of the three types of Primary Hyperoxaluria. The study will test whether this medication can help reduce the amount of oxalate passed in the urine.
Who can participate: The study is open to male and female patients aged 6 years and older who have a confirmed genetic diagnosis of Primary Hyperoxaluria type 1, 2, or 3. Participants should already be receiving optimal care for their condition, which may include increased fluid intake, vitamin B6, and potassium citrate. They must have a certain level of urinary oxalate excretion from two valid 24-hour urine collections (at least 0.70 mmol per 24 hours per 1.73 m²). Kidney function must be at least 45 mL per minute per 1.73 m². Female participants who have started puberty and adult women of childbearing potential must have a negative pregnancy test within 60 days before starting treatment.
Who cannot participate: Patients without a confirmed diagnosis, those outside the specified age range, or those unable to follow study procedures are excluded. Patients with other medical conditions that might interfere with the study, those who are pregnant or breastfeeding, those currently in another clinical trial, those with allergies to the study medication, those with a history of substance abuse, or those who have had recent major surgery are also ineligible.
Study goals: The trial will last up to 60 days and aims to determine whether stiripentol can decrease urinary oxalate excretion. Participants will receive either stiripentol or a placebo. Researchers will monitor changes in urine oxalate levels over time, as well as kidney function and the occurrence of kidney stones. Quality of life assessments will also be conducted using age-appropriate questionnaires.
Investigational drug: Stiripentol is classified as an anticonvulsant but is being studied for its potential to enhance the activity of certain enzymes that help break down oxalate. By reducing oxalate accumulation, it may help manage symptoms and slow disease progression in all three types of Primary Hyperoxaluria.
Summary
The three ongoing clinical trials for Primary Hyperoxaluria represent diverse therapeutic approaches to managing this rare genetic disorder. The trials are distributed across six European countries, with Germany, France, and Italy each hosting multiple studies. This concentration of research in these countries reflects established centers of expertise in rare kidney disorders.
Each trial targets a different aspect of the disease mechanism. Nedosiran focuses on patients with the most severe kidney impairment, including those on dialysis, using RNA interference technology to reduce oxalate production. ABO-101 represents a cutting-edge gene therapy approach, attempting to correct the underlying genetic defect through gene editing. Stiripentol takes a different route by enhancing the body’s natural ability to break down oxalate and is notable for being tested across all three types of Primary Hyperoxaluria.
The age ranges vary considerably, with the nedosiran trial accepting patients from newborns through adults, the ABO-101 trial including children aged 6 and older, and the stiripentol trial also starting at age 6. This variety provides potential treatment options for patients at different life stages and with varying degrees of disease severity. Together, these trials offer hope for improved management of this challenging condition and may lead to new standard treatment options in the future.
