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Study on the Effectiveness and Safety of Alpelisib for Patients with Dent 2 Disease

Verified siteRegistered drugNo placebo
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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a rare kidney condition known as Dent disease type 2. The study will explore the effects of a medication called Alpelisib, also known by its code name BYL719. Alpelisib is taken in the form of film-coated tablets and is being tested to see if it can help improve kidney function in patients with this condition.

The purpose of the study is to evaluate how well Alpelisib works in increasing the kidney's ability to absorb certain substances. Participants will take Alpelisib orally, starting with a dose of 50 mg per day for the first week, followed by 150 mg per day for the next three weeks. The study will also involve the use of a special imaging technique that uses a substance called 99mTc-labeled DMSA to measure kidney function. This technique helps in assessing how well the kidneys are working in terms of reabsorbing proteins.

Throughout the study, researchers will monitor changes in kidney function and other related health markers. The study aims to provide insights into whether Alpelisib can be a beneficial treatment for improving kidney function in patients with Dent disease type 2. Participants will be observed for any improvements in their condition over the course of the treatment period.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Joining the study

    Participation in the study requires meeting specific criteria, including being at least 18 years old, having genetically confirmed Dent 2 disease, and having a certain level of kidney function. Only male patients are eligible due to the nature of the disease.

  2. Step 2

    Initial treatment phase

    The treatment begins with taking alpelisib orally. For the first week, the dosage is 50 mg per day. This medication is provided in the form of film-coated tablets.

  3. Step 3

    Increased dosage phase

    After the initial week, the dosage of alpelisib is increased to 150 mg per day. This dosage is maintained for the following three weeks. The medication continues to be taken orally in the form of film-coated tablets.

  4. Step 4

    Monitoring and assessment

    Throughout the four-week treatment period, the effectiveness of the medication is assessed by measuring the kidney's ability to absorb certain substances. This involves monitoring the uptake of a specific compound, 99mTc-DMSA, which is used to evaluate kidney function.

  5. Step 5

    Evaluation of secondary outcomes

    Additional assessments include evaluating changes in the excretion of proteins and other substances in the urine, as well as monitoring symptoms related to Fanconi syndrome, which affects kidney function.

Who can join the trial?

6 criteria

  • Must be at least 18 years old.
  • Must have a genetic confirmation of having Dent 2 disease. This means a test has shown you have this specific condition.
  • Must have an eGFR of at least 50 ml/min/1.73 m². eGFR stands for estimated Glomerular Filtration Rate, which is a test to check how well your kidneys are working.
  • Must be expected to follow the study rules and procedures.
  • Must have signed an Informed Consent Form (ICF). This is a document that explains the study and confirms you agree to participate.
  • Only male patients can join the study because Dent 2 disease is linked to the X chromosome, which affects males.

Who cannot join the trial?

2 criteria

  • Only males can participate, so females cannot join the study.
  • Individuals who are considered part of a vulnerable population are not allowed to participate. A vulnerable population includes people who might have difficulty giving informed consent or are at higher risk of harm.
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Investigated drugs

Alpelisib is a medication being tested in this study for its ability to improve kidney function in patients with Dent 2 disease. The study aims to see if Alpelisib can help the kidneys better absorb certain proteins, which is important for maintaining healthy kidney function. Participants in the study will take Alpelisib orally for a period of four weeks.

What is already known about the treatment

Alpelisib – Alpelisib is administered orally in tablet form. It is currently being studied in a phase II clinical trial for its potential use in treating Dent 2 disease, a rare genetic disorder affecting kidney function. The main therapeutic indication being explored is its ability to enhance renal uptake of a specific tracer, which may indicate improved kidney function. At the molecular level, Alpelisib works by inhibiting a specific enzyme involved in cell growth and metabolism, which may help in managing the symptoms of Dent 2 disease. It is classified pharmacologically as a PI3K inhibitor.

Investigated diseases

Dent Disease 2 – Dent Disease 2 is a rare genetic disorder that primarily affects the kidneys. It is characterized by the kidneys' inability to properly reabsorb certain proteins and other substances, leading to their loss in urine. This condition often results in symptoms such as proteinuria, which is the presence of excess proteins in the urine, and can also cause kidney stones and other kidney-related issues. Over time, individuals with Dent Disease 2 may experience progressive kidney dysfunction. The disease is caused by mutations in specific genes that affect kidney function. It is typically inherited in an X-linked recessive pattern, meaning it predominantly affects males.
Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IITrial ID2024-514196-17-00Protocol codeALPEDENT_OPBG_2024Estimated enrolment4 patientsSponsorOspedale Pediatrico Bambino Gesu

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