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A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD) (PM577a)

11 września 2026 zaktualizowane przez: Prime Medicine, Inc.

A Phase 1/2 Clinical Study to Evaluate Safety, Tolerability, Biological Activity, and Initial Efficacy of Prime Editing (PM577a) for the Treatment of Wilson Disease (WD) in Adult and Adolescent Participants With at Least One Allele Harboring the p.H1069Q Mutation in ATP7B

The purpose of this study is to evaluate the safety, tolerability, biological activity, and initial efficacy of PM577a, an investigational Prime Editing therapy, in adults and adolescents with Wilson disease (WD).

Wilson disease is caused by changes (mutations) in the ATP7B gene that prevent the body from removing excess copper normally. PM577a is designed to precisely correct one of the most common disease-causing ATP7B mutations (p.H1069Q) in liver cells with the goal of restoring normal copper metabolism.

This is the first study of PM577a in people. Participants will receive a single intravenous (IV) infusion of PM577a and will be monitored closely to evaluate safety, how the body responds to treatment, whether copper metabolism improves, and whether treatment may improve signs and symptoms of Wilson disease.

Przegląd badań

Status

Rekrutacyjny

Warunki

Interwencja / Leczenie

Szczegółowy opis

This is a Phase 1/2, open-label study evaluating PM577a in adults and adolescents with Wilson disease who have specific disease-causing changes in the ATP7B gene, including at least one p.H1069Q mutation.

The study will evaluate the safety of PM577a, determine an appropriate dose for future studies, and assess whether treatment restores copper metabolism and improves clinical measures of Wilson disease. Participants will receive a single IV infusion of PM577a and will undergo regular safety evaluations, laboratory testing, imaging, and clinical assessments for approximately 48 weeks after treatment. Participants will then be asked to enroll in a separate long-term follow-up study to continue monitoring safety and treatment effects.

Typ studiów

Interwencyjne

Zapisy (Szacowany)

42

Faza

  • Faza 2
  • Faza 1

Kontakty i lokalizacje

Ta sekcja zawiera dane kontaktowe osób prowadzących badanie oraz informacje o tym, gdzie badanie jest przeprowadzane.

Lokalizacje studiów

    • Auckland
      • Grafton, Auckland, Nowa Zelandia, 1010
        • Rekrutacyjny
        • New Zealand Clinical Research (NZCR)
        • Kontakt:
    • Illinois
      • Chicago, Illinois, Stany Zjednoczone, 60611
        • Jeszcze nie rekrutacja
        • Northwestern University Division of Gastroenterology and Hepatology
        • Kontakt:
    • Texas
      • San Antonio, Texas, Stany Zjednoczone, 78215
        • Rekrutacyjny
        • ARC Texas Liver Institute
        • Kontakt:
        • Kontakt:

Kryteria uczestnictwa

Badacze szukają osób, które pasują do określonego opisu, zwanego kryteriami kwalifikacyjnymi. Niektóre przykłady tych kryteriów to ogólny stan zdrowia danej osoby lub wcześniejsze leczenie.

Kryteria kwalifikacji

Wiek uprawniający do nauki

  • Dziecko
  • Dorosły
  • Starszy dorosły

Akceptuje zdrowych ochotników

Nie

Opis

Inclusion Criteria:

  • Confirmed Wilson Disease (WD) diagnosis as determined by medical history consistent with WD
  • Historical genetic analysis demonstrating biallelic pathogenic, likely pathogenic, or suspected pathogenic ATP7B variants, including at least one p.H1069Q allele.
  • Treated and stable on standard of care therapy for WD for the past 6 months prior to signing ICF, as documented by a history of adherence to SOC medications (i.e., penicillamine, trientine, and/or zinc) without significant medication or dose/frequency changes, per Investigator judgement.
  • Demonstrated Adequate Copper Control confirmed at screening
  • Willingness to maintain a stable, copper-conscious diet and avoid copper-containing supplements, from signing of the ICF until the physician determines that it is no longer necessary post-infusion.
  • Willingness to abstain from alcohol use from start of the screening period through 3 months after PM577a infusion and adhere to recommendations of moderate alcohol consumption (as defined in this protocol) through primary follow-up period.
  • Participants are expected to enroll in a separate long-term follow-up study for a total of approximately 15 years of follow-up following PM577a administration.

Exclusion Criteria:

  • Known prior medically significant reactions (e.g., severe hypersensitivity, myocarditis) to an LNP-based or PEG-containing product (e.g., mRNA-based COVID vaccinations, MiraLAX) or any medication required as part of the clinical study protocol
  • Receipt of any prior gene therapy for WD, including AAV-based therapy
  • Receipt of any liver-directed LNP gene therapy (including siRNA or ASO therapies) or gene editing treatment.
  • Unstable neurological conditions within the prior 12 months which may impact participant safety or participation in the study, including ability to complete study requirements or procedures as outlined in the clinical study protocol in the opinion of the Investigator
  • In individuals with psychiatric involvement, current or fluctuant clinical instability with new or changing diagnoses or substantial medication regimen changes in the past 12 months that could limit their participation, in the opinion of the Investigator.
  • Receipt of prior liver transplantation or listed for transplantation
  • Body Mass Index ≥ 35 kg/m2
  • Evidence of Severe Hepatic Impairment or uncontrolled liver disease within 6 months before screening.
  • Evidence of Moderate or Severe Renal Impairment in the last year
  • History of significant liver disease other than WD
  • Clinically significant coagulopathy or disorder of platelet function
  • Active infectious disease including:

    1. Known or suspected active systemic infection
    2. Receipt of systemic antimicrobial therapy within 30 days of screening.
    3. Positive for presence of human immunodeficiency virus (HIV)-1 or HIV-2 (evidence of infection, regardless of viral load).
  • History of known autoimmune or genetic causes of myopathy or myositis
  • Prior or current malignancy or myeloproliferative disorder (excluding Stage 1 or lower, fully treated/excised malignant and pre-malignant disease of the skin, cervix or colon. Additionally, any other malignant and pre-malignant disease that the Investigator in consultation with the treating oncologist and study Medical Monitor deem has been fully treated/excised for > 5 years).
  • Any condition, laboratory abnormality, or reason that could adversely affect participant safety or study results, as determined by the Investigator, including, but not limited to:

    1. Clinical evidence of unstable coronary disease as defined by history of myocardial infarction in the past 24 months, history of unstable angina
    2. Any severe clinical condition of limited life expectancy
  • Pregnancy or breastfeeding in a postpartum female or absence of adequate contraception for fertile participants. Females of childbearing potential and non-sterile male participants who are or may become sexually active with female partners of childbearing potential are required to use highly effective contraception from Screening through at least 84 days after drug product infusion.
  • History of moderate or severe Alcohol Use Disorder (AUD) or Drug Use Disorder (DUD) with < 3 years of continuous abstinence preceding the date of screening
  • Participation in another clinical study with an investigational drug within 30 days of Screening or at least 5 times the half-life of the investigational drug (whichever is longer).

Plan studiów

Ta sekcja zawiera szczegółowe informacje na temat planu badania, w tym sposób zaprojektowania badania i jego pomiary.

Jak projektuje się badanie?

Szczegóły projektu

  • Główny cel: Leczenie
  • Przydział: Nie dotyczy
  • Model interwencyjny: Zadanie dla jednej grupy
  • Maskowanie: Brak (otwarta etykieta)

Broń i interwencje

Grupa uczestników / Arm
Interwencja / Leczenie
Eksperymentalny: PM577a
PM577a is a sterile suspension of lipid nanoparticle (LNP)-formulated Prime Editors (PEs) intended for single dose intravenous (IV) infusion for the treatment of Wilson disease (WD).
PM577a is being evaluated in participants with Wilson disease caused by biallelic pathogenic, likely pathogenic, or suspected pathogenic ATP7B variants, including at least one p.H1069Q allele.

Co mierzy badanie?

Podstawowe miary wyniku

Miara wyniku
Ramy czasowe
Safety and tolerability of PM577a. Quantified by frequency and severity of treatment emergent adverse events (TEAEs).
Ramy czasowe: Post-infusion through Week 48
Post-infusion through Week 48

Miary wyników drugorzędnych

Miara wyniku
Opis środka
Ramy czasowe
Frequency and severity of Dose Limiting Toxicities (DLTs)
Ramy czasowe: Infusion through the 14-day post infusion DLT observation period
Infusion through the 14-day post infusion DLT observation period
Evidence of improved copper metabolism based on meeting the criteria to stop standard of care (SOC) therapy (chelation or zinc), including stable or improving non-ceruloplasmin bound copper levels and liver function tests.
Ramy czasowe: Infusion through Week 48
Infusion through Week 48
Percent of participants with non-ceruloplasmin bound copper (NCC)
Ramy czasowe: Weeks 12, 24, and 48 post-infusion
Weeks 12, 24, and 48 post-infusion
Percent change from baseline in ceruloplasmin levels
Ramy czasowe: From PM577a infusion to Weeks 4, 6, 9, 12, 24, and 48 post-infusion
From PM577a infusion to Weeks 4, 6, 9, 12, 24, and 48 post-infusion
Percent of participants with ceruloplasmin within the normal range
Ramy czasowe: Weeks 4, 6, 9, 12, 24, and 48 post-infusion
Weeks 4, 6, 9, 12, 24, and 48 post-infusion
Percent of participants with improved non-ceruloplasmin bound copper measured by protein speciation (NCC-Sp)
Ramy czasowe: Weeks 12, 24, and 48 post-infusion of PM577a
Weeks 12, 24, and 48 post-infusion of PM577a
Change in serum radiocopper ratio
Ramy czasowe: 24 hours/2 hours post-64Cu injection from baseline to Week 6 or later post-infusion of PM577a
24 hours/2 hours post-64Cu injection from baseline to Week 6 or later post-infusion of PM577a
Percent change in liver copper efflux
Ramy czasowe: 1.5 hours and 20 hours post 64Cu injection from baseline to Week 6 or later post-infusion of PM577a
Measured by hepatic 64Cu PET standard uptake value (SUV)
1.5 hours and 20 hours post 64Cu injection from baseline to Week 6 or later post-infusion of PM577a
Percentage of participants off of standard of care
Ramy czasowe: Weeks 12 and 48 post-infusion of PM577a
Weeks 12 and 48 post-infusion of PM577a
On-target editing
Ramy czasowe: Weeks 24 and 48 post-infusion
Measured by liver biopsy specimen
Weeks 24 and 48 post-infusion
Percent change in Liver Copper Concentration
Ramy czasowe: From baseline to Week 24, and to Week 48 post PM577a infusion
Assessed by liver biopsy
From baseline to Week 24, and to Week 48 post PM577a infusion
Change in Liver Stiffness
Ramy czasowe: from baseline to Week 48 post PM577a infusion
Measured using transient or shear wave elastography
from baseline to Week 48 post PM577a infusion
Evaluation of health-related quality of life (HRQoL) as compared to baseline
Ramy czasowe: From baseline through study completion (Week 48)
Measured using the age-appropriate EuroQol 5 Dimension 5-Level instrument (EQ-5D-5L)
From baseline through study completion (Week 48)
Percent of participants with stable or improved modified Unified Wilson's Disease Rating Scale (mUWDRS) score
Ramy czasowe: Week 48 post PM577a infusion compared to baseline
Test is divided into 3 parts to assess for neurological and functional status in Wilson disease and divided into 3 parts. Part 1 (range 0-3), Part 2a (range 0-40), Part 2b (range 0-20) and Part 3 (range 0-147). Total cumulative range is 0-210. Higher scores indicate greater disease severity.
Week 48 post PM577a infusion compared to baseline
Percent of participants with stable or improved score on the Clinical Global Impression Improvement Scale (CGI-I)
Ramy czasowe: Measured over the course of the study (through Week 48) compared to baseline
Scores range from 1-7. Lower scores indicate a better outcome.
Measured over the course of the study (through Week 48) compared to baseline
Percent of participants with stable or improved score on the Clinical Global Impression Severity Scale (CGI-S)
Ramy czasowe: Measured over the course of the study (through Week 48) compared to baseline
Scores range from 1-7. Lower scores indicate a better outcome.
Measured over the course of the study (through Week 48) compared to baseline
Percent of participants with stable or improved Model for End-Stage Liver Disease (MELD) score
Ramy czasowe: Measured at Week 48 post PM577a infusion compared to baseline
Scores range from 6 and upward, with higher scores indicating a more severe liver disease and a worse prognosis.
Measured at Week 48 post PM577a infusion compared to baseline
Percent of participants with stable or improved modified Nazer score
Ramy czasowe: Measured at Week 48 post PM577a infusion compared to baseline
This score assesses prognosis in Wilson disease using total bilirubin, international normalized ratio (INR), aspartate aminotransferase (AST), white blood cell count (WBC), and serum albumin. Each component is scored from 0 to 4, producing a total score ranging from 0 to 20. Higher scores indicate a worse prognosis.
Measured at Week 48 post PM577a infusion compared to baseline
Percent change in 24-hour urinary copper excretion (UCE)
Ramy czasowe: From baseline to Weeks 12, 24, and 48 post PM577a infusion
For participants who are not on standard of care at the specified timepoint
From baseline to Weeks 12, 24, and 48 post PM577a infusion

Współpracownicy i badacze

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Sponsor

Daty zapisu na studia

Daty te śledzą postęp w przesyłaniu rekordów badań i podsumowań wyników do ClinicalTrials.gov. Zapisy badań i zgłoszone wyniki są przeglądane przez National Library of Medicine (NLM), aby upewnić się, że spełniają określone standardy kontroli jakości, zanim zostaną opublikowane na publicznej stronie internetowej.

Główne daty studiów

Rozpoczęcie studiów (Szacowany)

1 września 2026

Zakończenie podstawowe (Szacowany)

1 listopada 2028

Ukończenie studiów (Szacowany)

1 grudnia 2028

Daty rejestracji na studia

Pierwszy przesłany

24 lipca 2026

Pierwszy przesłany, który spełnia kryteria kontroli jakości

31 lipca 2026

Pierwszy wysłany (Rzeczywisty)

5 sierpnia 2026

Aktualizacje rekordów badań

Ostatnia wysłana aktualizacja (Rzeczywisty)

15 września 2026

Ostatnia przesłana aktualizacja, która spełniała kryteria kontroli jakości

11 września 2026

Ostatnia weryfikacja

1 września 2026

Więcej informacji

Terminy związane z tym badaniem

Inne numery identyfikacyjne badania

  • Prime-0201
  • 2025 (Grant/umowa NIH USA: Faculty of Social Sciences Scientific Grant at the University of Gdańsk)
  • 2025-525034-62 (Numer EudraCT)

Informacje o lekach i urządzeniach, dokumenty badawcze

Bada produkt leczniczy regulowany przez amerykańską FDA

Tak

Bada produkt urządzenia regulowany przez amerykańską FDA

Nie

produkt wyprodukowany i wyeksportowany z USA

Tak

Te informacje zostały pobrane bezpośrednio ze strony internetowej clinicaltrials.gov bez żadnych zmian. Jeśli chcesz zmienić, usunąć lub zaktualizować dane swojego badania, skontaktuj się z register@clinicaltrials.gov. Gdy tylko zmiana zostanie wprowadzona na stronie clinicaltrials.gov, zostanie ona automatycznie zaktualizowana również na naszej stronie internetowej .