此页面是自动翻译的,不保证翻译的准确性。请参阅 英文版 对于源文本。

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

2026年9月11日 更新者: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.

研究概览

地位

招聘中

干预/治疗

详细说明

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.

研究类型

介入性

注册 (估计的)

42

阶段

  • 阶段2
  • 阶段1

联系人和位置

本节提供了进行研究的人员的详细联系信息,以及有关进行该研究的地点的信息。

学习地点

    • Auckland
      • Grafton、Auckland、新西兰、1010
        • 招聘中
        • New Zealand Clinical Research (NZCR)
        • 接触:
    • Illinois
      • Chicago、Illinois、美国、60611
        • 尚未招聘
        • Northwestern University Division of Gastroenterology and Hepatology
        • 接触:
    • Texas
      • San Antonio、Texas、美国、78215
        • 招聘中
        • ARC Texas Liver Institute
        • 接触:
        • 接触:

参与标准

研究人员寻找符合特定描述的人,称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

  • 孩子
  • 成人
  • 年长者

接受健康志愿者

不

描述

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).

学习计划

本节提供研究计划的详细信息,包括研究的设计方式和研究的衡量标准。

研究是如何设计的?

设计细节

  • 主要用途:治疗
  • 分配:不适用
  • 介入模型:单组作业
  • 屏蔽:无(打开标签)

武器和干预

参与者组/臂
干预/治疗
实验性的: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.

研究衡量的是什么?

主要结果指标

结果测量
大体时间
Safety and tolerability of PM577a. Quantified by frequency and severity of treatment emergent adverse events (TEAEs).
大体时间:Post-infusion through Week 48
Post-infusion through Week 48

次要结果测量

结果测量
措施说明
大体时间
Frequency and severity of Dose Limiting Toxicities (DLTs)
大体时间: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.
大体时间:Infusion through Week 48
Infusion through Week 48
Percent of participants with non-ceruloplasmin bound copper (NCC)
大体时间:Weeks 12, 24, and 48 post-infusion
Weeks 12, 24, and 48 post-infusion
Percent change from baseline in ceruloplasmin levels
大体时间: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
大体时间: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)
大体时间:Weeks 12, 24, and 48 post-infusion of PM577a
Weeks 12, 24, and 48 post-infusion of PM577a
Change in serum radiocopper ratio
大体时间: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
大体时间: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
大体时间:Weeks 12 and 48 post-infusion of PM577a
Weeks 12 and 48 post-infusion of PM577a
On-target editing
大体时间:Weeks 24 and 48 post-infusion
Measured by liver biopsy specimen
Weeks 24 and 48 post-infusion
Percent change in Liver Copper Concentration
大体时间: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
大体时间: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
大体时间: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
大体时间: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)
大体时间: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)
大体时间: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
大体时间: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
大体时间: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)
大体时间: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

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查,以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (估计的)

2026年9月1日

初级完成 (估计的)

2028年11月1日

研究完成 (估计的)

2028年12月1日

研究注册日期

首次提交

2026年7月24日

首先提交符合 QC 标准的

2026年7月31日

首次发布 (实际的)

2026年8月5日

研究记录更新

最后更新发布 (实际的)

2026年9月15日

上次提交的符合 QC 标准的更新

2026年9月11日

最后验证

2026年9月1日

更多信息

与本研究相关的术语

药物和器械信息、研究文件

研究美国 FDA 监管的药品

是的

研究美国 FDA 监管的设备产品

不

在美国制造并从美国出口的产品

是的

此信息直接从 clinicaltrials.gov 网站检索,没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求,请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改,我们的网站上也会自动更新.

订阅