Ongoing Clinical Trials for Congenital Cystic Kidney Disease

There are currently 7 clinical trials investigating treatments for congenital cystic kidney disease, primarily focusing on Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD). These studies are testing medications including Metformin, Tolvaptan, ABBV-CLS-628, Hydrochlorothiazide, Empagliflozin, and Amiloride across multiple European countries. (Also known as: Polycystic kidney disease, PKD, ADPKD, ARPKD)

Clinical trial locations

• Belgium
  • Study of ABBV-CLS-628 to evaluate safety and effectiveness in adults with Autosomal Dominant Polycystic Kidney Disease
  • Study on Hydrochlorothiazide and Tolvaptan for Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • Study on the Safety and Effects of Tolvaptan for Children with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
  • Study on the Safety and Effects of Tolvaptan for Infants and Young Children with Autosomal Recessive Polycystic Kidney Disease
• France
  • Study of ABBV-CLS-628 to evaluate safety and effectiveness in adults with Autosomal Dominant Polycystic Kidney Disease
  • Study on Hydrochlorothiazide and Tolvaptan for Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
• Germany
  • Study of ABBV-CLS-628 to evaluate safety and effectiveness in adults with Autosomal Dominant Polycystic Kidney Disease
  • Study on Hydrochlorothiazide and Tolvaptan for Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • Study of Empagliflozin for Patients with Autosomal Dominant Polycystic Kidney Disease
  • Study on the Safety and Effects of Tolvaptan for Children with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
  • Study on the Safety and Effects of Tolvaptan for Infants and Young Children with Autosomal Recessive Polycystic Kidney Disease
• Italy
  • Study Comparing Metformin and Tolvaptan for Adults with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • Study of ABBV-CLS-628 to evaluate safety and effectiveness in adults with Autosomal Dominant Polycystic Kidney Disease
• Netherlands
  • Study of ABBV-CLS-628 to evaluate safety and effectiveness in adults with Autosomal Dominant Polycystic Kidney Disease
  • Study on Hydrochlorothiazide and Tolvaptan for Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • Study on the Effects of Amiloride and Sodium Chloride on Vascular Stiffness in Patients with Polycystic Kidney Disease
• Poland
  • Study on the Safety and Effects of Tolvaptan for Children with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
  • Study on the Safety and Effects of Tolvaptan for Infants and Young Children with Autosomal Recessive Polycystic Kidney Disease
• Portugal
  • Study of ABBV-CLS-628 to evaluate safety and effectiveness in adults with Autosomal Dominant Polycystic Kidney Disease
• Spain
  • Study of ABBV-CLS-628 to evaluate safety and effectiveness in adults with Autosomal Dominant Polycystic Kidney Disease
  • Study on Hydrochlorothiazide and Tolvaptan for Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • Study on the Safety and Effects of Tolvaptan for Children with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
  • Study on the Safety and Effects of Tolvaptan for Infants and Young Children with Autosomal Recessive Polycystic Kidney Disease

Study Comparing Metformin and Tolvaptan for Adults with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

This trial is comparing two different medications to help slow down kidney function decline in adults with ADPKD, a genetic condition that causes fluid-filled cysts to grow in the kidneys.

Inclusion criteria: Participants must be men or women aged between 18 and 55 years with a genetic diagnosis of Type I ADPKD. Their kidney function must show an eGFR of at least 45 ml/min/1.73 m². Participants must sign informed consent after understanding the study details.

Exclusion criteria: While specific exclusion criteria are not fully detailed, participants must be able to follow the trial requirements and take the medications as prescribed throughout the two-year study period.

Focus and goals: The study aims to determine whether taking 1500 mg of Metformin daily is as effective as Tolvaptan in slowing kidney function decline. Researchers will measure changes in kidney function using the eGFR test and assess kidney size changes through CT scans at 12 and 24 months. Participants will be randomly assigned to receive either medication and will have regular check-ups to monitor their health throughout the two-year study.

Investigational drugs: Metformin, commonly used for managing blood sugar in diabetes, is being tested for its potential to slow kidney function decline in ADPKD. Tolvaptan is specifically approved for slowing kidney disease progression in ADPKD by blocking hormones that cause water retention, helping to reduce cyst size.

Study of ABBV-CLS-628 to evaluate safety and effectiveness in adults with Autosomal Dominant Polycystic Kidney Disease

This study is investigating a new medication called ABBV-CLS-628, which is given through an intravenous injection, to determine if it is safe and effective for adults with ADPKD.

Inclusion criteria: Participants must be between 18 and 55 years old with confirmed ADPKD classified as Mayo Clinic Class 1C, 1D, or 1E. Kidney function must show eGFR between 30 and 90 mL/min/1.73 m². Women must have negative pregnancy tests and agree to use two effective forms of birth control from the first day of the study.

Exclusion criteria: People who are pregnant, breastfeeding, or below 18 or above 65 years cannot participate. Those with severe kidney failure requiring dialysis, history of kidney transplant, uncontrolled high blood pressure (above 160/100 mmHg), active liver disease, recent heart attack or stroke, known allergies to similar medications, or serious mental health conditions are excluded. Major planned surgery during the study period also disqualifies participants.

Focus and goals: The 96-week study will monitor kidney size using MRI scans and track kidney function changes. Participants will be randomly assigned to receive either ABBV-CLS-628 or placebo, with neither participants nor doctors knowing which treatment is given. Regular visits will evaluate effectiveness and check for side effects.

Investigational drugs: ABBV-CLS-628 is an experimental monoclonal antibody currently in Phase 2 clinical trials. It represents a potential new treatment option for managing ADPKD, though its specific mechanism of action is still under investigation.

Study on Hydrochlorothiazide and Tolvaptan for Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

This trial explores whether adding Hydrochlorothiazide to Tolvaptan treatment can improve kidney protection and reduce side effects in ADPKD patients.

Inclusion criteria: Participants must have a confirmed diagnosis of ADPKD and be 18 years or older. Kidney function must show eGFR greater than 25 mL/min/1.73m² (or greater than 35 in Belgium). Patients must already be on stable treatment with the highest tolerable dose of Tolvaptan for at least 3 months.

Exclusion criteria: People without ADPKD, those outside the age range, vulnerable populations, those unable to follow procedures, patients with interfering medical conditions, participants in other trials, those with allergies to study medications, pregnant or breastfeeding women, people with severe liver problems, and those with uncontrolled high blood pressure cannot participate.

Focus and goals: The study investigates whether Hydrochlorothiazide can improve Tolvaptan’s effectiveness and reduce its side effects, particularly increased urine production. Participants will be randomly assigned to receive either Hydrochlorothiazide or placebo alongside their regular Tolvaptan treatment. Regular check-ups will monitor kidney function, urine volume, blood pressure, and quality of life through questionnaires.

Investigational drugs: Hydrochlorothiazide is a diuretic (water pill) that helps remove excess salt and water from the body, commonly used for high blood pressure. Tolvaptan blocks vasopressin receptors to slow cyst formation in kidneys and is currently the only approved treatment to protect kidneys in ADPKD patients.

Study on the Safety and Effects of Tolvaptan for Children with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

This trial evaluates the safety and effects of Tolvaptan in children with ARPKD, a condition that causes kidney cysts in infants and children.

Inclusion criteria: Participants must be between 28 days and less than 18 years old with clinical features consistent with ARPKD. A parent or legal guardian must provide written informed consent, and children old enough according to local laws must provide their own assent. Participants must be able to follow all trial requirements.

Exclusion criteria: Patients without ARPKD, those outside the age range, children unable to follow procedures or take medication as required, those with interfering medical conditions or medications, recent surgery patients, pregnant or breastfeeding individuals, those with allergies to similar medications, and participants in other clinical trials are excluded.

Focus and goals: The study will monitor safety and tolerability of Tolvaptan over up to 18 months, tracking changes in kidney size and function, growth and development, and overall health. The medication is available as oral suspension and tablets under names like Jinarc and Samsca. Regular check-ups will ensure participant well-being and gather data on effectiveness.

Investigational drugs: Tolvaptan is a vasopressin receptor antagonist being studied for its ability to slow kidney disease progression in children with ARPKD by reducing cyst formation and growth.

Study of Empagliflozin for Patients with Autosomal Dominant Polycystic Kidney Disease

This trial investigates whether Empagliflozin, a medication typically used for diabetes, can help manage kidney growth in adults with ADPKD.

Inclusion criteria: Participants must be 18 years or older with confirmed ADPKD diagnosis (through family history, imaging, or genetic testing). Kidney function must show eGFR between 25-90 (for ages 18-50) or 25-65 (for ages over 50). Participants must be classified as Mayo Class I C, D, or E. Those taking Tolvaptan for at least 3 months can participate. Participants must be willing to attend visits, follow treatment, and provide written informed consent.

Exclusion criteria: People without ADPKD diagnosis, those outside specified age ranges, participants from excluded clinical trial groups, and members of vulnerable populations cannot participate.

Focus and goals: The 18-month study will randomly assign participants to receive either Empagliflozin 10 mg tablets or placebo. The primary focus is measuring changes in total kidney volume from baseline, tracked as percentage per year. Regular monitoring will assess kidney health and overall well-being.

Investigational drugs: Empagliflozin (marketed as Jardiance) is an SGLT2 inhibitor that reduces glucose reabsorption in kidneys, primarily used for type 2 diabetes. This trial explores its potential to slow kidney growth in ADPKD patients.

Study on the Effects of Amiloride and Sodium Chloride on Vascular Stiffness in Patients with Polycystic Kidney Disease

This study examines whether high-salt diets worsen arterial stiffness in ADPKD patients and whether Amiloride can prevent or reduce this effect.

Inclusion criteria: Participants must be adults with ADPKD diagnosed by Ravine criteria or documented PKD1 or PKD2 gene mutations. Kidney function must show CKD-EPI eGFR of at least 60 ml/min/1.73m². Both men and women can participate, and they must be able to understand the study and provide informed consent.

Exclusion criteria: Pregnant or breastfeeding women, people with severe allergic reactions to study medication, uncontrolled high blood pressure, significant heart problems, severe liver disease, kidney problems other than ADPKD, current participation in another trial, history of substance abuse, major surgery within three months, or any condition making participation unsafe are excluded.

Focus and goals: Participants will be randomly assigned to high-salt diet or placebo groups for up to four weeks. The study will measure changes in arterial stiffness using pulse wave velocity, 24-hour blood pressure, blood inflammation markers, and in some cases, MRI scans to measure sodium levels in tissues.

Investigational drugs: Amiloride is a potassium-sparing diuretic taken orally that blocks sodium channels in kidneys, helping remove excess salt and water while retaining potassium. The study explores its potential to reduce arterial stiffness effects from high-salt diets in ADPKD patients.

Study on the Safety and Effects of Tolvaptan for Infants and Young Children with Autosomal Recessive Polycystic Kidney Disease

This trial focuses on evaluating Tolvaptan safety and effectiveness in very young children aged 28 days to less than 12 weeks with ARPKD.

Inclusion criteria: Children must be between 28 days and less than 12 weeks old with signs matching ARPKD diagnosis, including nephromegaly (enlarged kidneys), multiple kidney cysts, and history of low or no amniotic fluid during pregnancy. Parents or legal guardians must provide written informed consent and be able to follow all trial requirements.

Exclusion criteria: Patients with different kidney diseases, those outside the age range, children unable to follow procedures or take medication, those with serious interfering health conditions, those on interfering medications, kidney transplant recipients, and recent participants in other clinical trials cannot participate.

Focus and goals: The study will assess whether Tolvaptan can reduce the need for renal replacement therapy (dialysis or transplantation) by age one year. Secondary assessments include kidney function changes measured by eGFR, kidney size changes over 24 months, medication palatability, sodium level changes, growth measurements, and safety monitoring. The trial continues until July 2027.

Investigational drugs: Tolvaptan (OPC-41061) is an oral suspension vasopressin receptor antagonist that works by blocking hormones contributing to kidney cyst growth, potentially slowing disease progression in young children with ARPKD.

Summary

The seven ongoing clinical trials for congenital cystic kidney disease demonstrate a concentrated research effort in Europe, particularly in Germany, Belgium, and Spain, which host multiple studies. The trials predominantly focus on ADPKD in adults, with two dedicated studies examining ARPKD in children and infants.

A notable pattern is the frequent investigation of Tolvaptan, which appears in four of the seven trials, reflecting its established role as a primary treatment option. The research explores both new uses for existing medications (Metformin, Empagliflozin, Hydrochlorothiazide, Amiloride) and entirely new experimental treatments (ABBV-CLS-628). Several studies examine combination therapies, suggesting researchers are seeking ways to improve treatment effectiveness while managing side effects.

The trials vary in duration from several weeks to 96 weeks, with most focusing on measuring kidney function decline, kidney volume changes, and quality of life improvements. The inclusion of pediatric trials demonstrates commitment to addressing this condition across all age groups, which is particularly important given the serious impact on very young children.