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Promising enzyme therapy for kids with rare fabry disease enters key trial

NCT ID NCT06328608

Disease control Sponsor: Chiesi Farmaceutici S.p.A. Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Aug 11, 2026 · Updated 2 times

Summary

This study tests a drug called PRX-102 (pegunigalsidase alfa) in 22 children and teens aged 2 to 18 with Fabry disease, a rare genetic disorder that causes pain and organ damage. The drug is an enzyme replacement therapy given by infusion every two weeks. Researchers will monitor safety, side effects, and how well it controls disease symptoms like pain and kidney function.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
PRX-102 (pegunigalsidase alfa), a lab-made enzyme that replaces the missing or faulty enzyme in Fabry disease
What this could lead to
If successful, this could provide a treatment option for children with Fabry disease to help manage symptoms and slow disease progression.
What could go wrong
This is an early-to-mid stage trial with only 22 participants, so results may not apply to all patients. Side effects like infusion reactions are possible.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 2/3

Runs two stages together: whether the treatment works, then large-scale confirmation.

Participants

About 22 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jul 2025

Expected to finish

Apr 2031

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

2 to 17 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Participants with the provision of informed consent from their legal guardians * Boys and girls aged 2 to 7 years (Cohort A), 8 to 12 years (Cohort B), or 13 to \<18 years (Cohort C). * Confirmed diagnosis of Fabry disease * Presence of at least one of the following characteristic features of Fabry disease: neuropathic pain, cornea verticillata, and/or clustered angiokeratoma. * History of Fabry pain: Fabry crises OR chronic pain. * Clinical condition that, in the investigator's opinion, requires ERT treatment. Exclusion Criteria: All Subjects: * Estimated glomerular filtration rate (eGFR) at screening \< 80 mL/min/1.73 m2. * History of type I hypersensitivity reactions (anaphylactic or anaphylactoid life-threatening reaction) to other ERT treatment for Fabry disease or any component of the study drug. * Initiation of treatment with an angiotensin-converting enzyme inhibitor (ACEi) or angiotensin II receptor blocker (ARB) or a dose change in ongoing treatment in the four weeks before screening. * Urine protein to creatinine ratio (UPCR) \> 0.5 g/g (0.5 mg/mg or 500 mg/g) if not treated with an ACE inhibitor or ARB. * Currently taking another investigational drug for any condition. * History of acute kidney injury in the 12 months before screening, including specific kidney diseases (e.g., acute interstitial nephritis, acute glomerular and vasculitic renal diseases); non-specific conditions (e.g., ischaemia, toxic injury); or extrarenal pathology (e.g., prerenal azotaemia, acute postrenal obstructive nephropathy). * History of renal dialysis or kidney transplantation. * History of or current malignancy requiring treatment. * Severe cardiomyopathy or significant unstable cardiac disease within six months before screening. * A positive test for Severe Acute Respiratory Syndrome-Coronavirus 2 (SARS-CoV-2) within three months before screening. * Presence of any medical, emotional, behavioural, or psychological condition that, in the Investigator's judgement, could interfere with the subject's compliance with the requirements of the study. Additional Exclusion Criteria for Subjects Enrolled in Stage I: * Female * Non-classic form of Fabry disease * Receipt of treatment for Fabry disease within six months before screening * Positive for anti-PRX-102 antibodies at screening Additional Exclusion Criteria for Subjects in Stage II (i.e., non-treatment naïve males or females): * Unwilling to discontinue current ERT treatment for Fabry disease before baseline. * Females: Pregnant or lactating, or of childbearing potential with a fertile male partner and unwilling to use a highly reliable method of contraception from the informed consent signature until 30 days after the last infusion.

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Conditions

The condition(s) this trial relates to.

Fabry disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Fabry disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    12 sites in 6 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Centre Hospitalier Universitaire (CHU) de Bordeaux - Groupe Hospitalier Pellegrin

    RECRUITING

    Bordeaux, 33076, France

  • Cincinnati Children's Hospital Medical Center

    RECRUITING

    Cincinnati, Ohio, 45229, United States

  • Emory Genetics Clinical Trials Center

    RECRUITING

    Atlanta, Georgia, 30322, United States

  • Great Ormond Street Hospital for Children NHS Foundation Trust

    NOT_YET_RECRUITING

    London, United Kingdom

  • Haukeland Universitetssjukehus

    RECRUITING

    Bergen, 5021, Norway

  • Hopital Arnaud de Villeneuve

    RECRUITING

    Montpellier, France

  • Hospital Clinico Universitario De Santiago De Compostela

    RECRUITING

    Santiago de Compostela, Spain

  • Lysosomal and Rare Disorders Research and Treatment Center Inc

    RECRUITING

    Fairfax, Virginia, 22030, United States

  • Phoenix Children's

    RECRUITING

    Phoenix, Arizona, 85016, United States

  • UK für Kinder- und Jugendheilkunde der PMU Salzburg

    RECRUITING

    Salzburg, Austria

  • University of Iowa

    RECRUITING

    Iowa City, Iowa, 52242, United States

  • University of Utah

    RECRUITING

    Salt Lake City, Utah, 84108, United States

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