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

11 de septiembre de 2026 actualizado por: 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.

Descripción general del estudio

Estado

Reclutamiento

Intervención / Tratamiento

Descripción detallada

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.

Tipo de estudio

Intervencionista

Inscripción (Estimado)

42

Fase

  • Fase 2
  • Fase 1

Contactos y Ubicaciones

Esta sección proporciona los datos de contacto de quienes realizan el estudio e información sobre dónde se lleva a cabo este estudio.

Ubicaciones de estudio

    • Illinois
      • Chicago, Illinois, Estados Unidos, 60611
        • Aún no reclutando
        • Northwestern University Division of Gastroenterology and Hepatology
        • Contacto:
    • Texas
      • San Antonio, Texas, Estados Unidos, 78215
        • Reclutamiento
        • ARC Texas Liver Institute
        • Contacto:
          • Eric Lawitz, MD
          • Número de teléfono: 210-253-3426
          • Correo electrónico: lawitz@txliver.com
        • Contacto:
    • Auckland
      • Grafton, Auckland, Nueva Zelanda, 1010
        • Reclutamiento
        • New Zealand Clinical Research (NZCR)
        • Contacto:

Criterios de participación

Los investigadores buscan personas que se ajusten a una determinada descripción, denominada criterio de elegibilidad. Algunos ejemplos de estos criterios son el estado de salud general de una persona o tratamientos previos.

Criterio de elegibilidad

Edades elegibles para estudiar

  • Niño
  • Adulto
  • Adulto Mayor

Acepta Voluntarios Saludables

No

Descripción

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 de estudios

Esta sección proporciona detalles del plan de estudio, incluido cómo está diseñado el estudio y qué mide el estudio.

¿Cómo está diseñado el estudio?

Detalles de diseño

  • Propósito principal: Tratamiento
  • Asignación: N / A
  • Modelo Intervencionista: Asignación de un solo grupo
  • Enmascaramiento: Ninguno (etiqueta abierta)

Armas e Intervenciones

Grupo de participantes/brazo
Intervención / Tratamiento
Experimental: 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.

¿Qué mide el estudio?

Medidas de resultado primarias

Medida de resultado
Periodo de tiempo
Safety and tolerability of PM577a. Quantified by frequency and severity of treatment emergent adverse events (TEAEs).
Periodo de tiempo: Post-infusion through Week 48
Post-infusion through Week 48

Medidas de resultado secundarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Frequency and severity of Dose Limiting Toxicities (DLTs)
Periodo de tiempo: 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.
Periodo de tiempo: Infusion through Week 48
Infusion through Week 48
Percent of participants with non-ceruloplasmin bound copper (NCC)
Periodo de tiempo: Weeks 12, 24, and 48 post-infusion
Weeks 12, 24, and 48 post-infusion
Percent change from baseline in ceruloplasmin levels
Periodo de tiempo: 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
Periodo de tiempo: 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)
Periodo de tiempo: Weeks 12, 24, and 48 post-infusion of PM577a
Weeks 12, 24, and 48 post-infusion of PM577a
Change in serum radiocopper ratio
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: Weeks 12 and 48 post-infusion of PM577a
Weeks 12 and 48 post-infusion of PM577a
On-target editing
Periodo de tiempo: Weeks 24 and 48 post-infusion
Measured by liver biopsy specimen
Weeks 24 and 48 post-infusion
Percent change in Liver Copper Concentration
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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)
Periodo de tiempo: 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)
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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)
Periodo de tiempo: 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

Colaboradores e Investigadores

Aquí es donde encontrará personas y organizaciones involucradas en este estudio.

Patrocinador

Fechas de registro del estudio

Estas fechas rastrean el progreso del registro del estudio y los envíos de resultados resumidos a ClinicalTrials.gov. Los registros del estudio y los resultados informados son revisados ​​por la Biblioteca Nacional de Medicina (NLM) para asegurarse de que cumplan con los estándares de control de calidad específicos antes de publicarlos en el sitio web público.

Fechas importantes del estudio

Inicio del estudio (Estimado)

1 de septiembre de 2026

Finalización primaria (Estimado)

1 de noviembre de 2028

Finalización del estudio (Estimado)

1 de diciembre de 2028

Fechas de registro del estudio

Enviado por primera vez

24 de julio de 2026

Primero enviado que cumplió con los criterios de control de calidad

31 de julio de 2026

Publicado por primera vez (Actual)

5 de agosto de 2026

Actualizaciones de registros de estudio

Última actualización publicada (Actual)

15 de septiembre de 2026

Última actualización enviada que cumplió con los criterios de control de calidad

11 de septiembre de 2026

Última verificación

1 de septiembre de 2026

Más información

Términos relacionados con este estudio

Información sobre medicamentos y dispositivos, documentos del estudio

Estudia un producto farmacéutico regulado por la FDA de EE. UU.

Sí

Estudia un producto de dispositivo regulado por la FDA de EE. UU.

No

producto fabricado y exportado desde los EE. UU.

Sí

Esta información se obtuvo directamente del sitio web clinicaltrials.gov sin cambios. Si tiene alguna solicitud para cambiar, eliminar o actualizar los detalles de su estudio, comuníquese con register@clinicaltrials.gov. Tan pronto como se implemente un cambio en clinicaltrials.gov, también se actualizará automáticamente en nuestro sitio web. .

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