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

2026년 9월 11일 업데이트: 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.

연구 개요

상태

모병

정황

개입 / 치료

상세 설명

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.

연구 유형

중재적

등록 (추정된)

42

단계

  • 2 단계
  • 1단계

연락처 및 위치

이 섹션에서는 연구를 수행하는 사람들의 연락처 정보와 이 연구가 수행되는 장소에 대한 정보를 제공합니다.

연구 장소

    • Auckland
      • Grafton, Auckland, 뉴질랜드, 1010
        • 모병
        • New Zealand Clinical Research (NZCR)
        • 연락하다:
    • Illinois
      • Chicago, Illinois, 미국, 60611
        • 아직 모집하지 않음
        • Northwestern University Division of Gastroenterology and Hepatology
        • 연락하다:
    • Texas
      • San Antonio, Texas, 미국, 78215
        • 모병
        • ARC Texas Liver Institute
        • 연락하다:
        • 연락하다:

참여기준

연구원은 적격성 기준이라는 특정 설명에 맞는 사람을 찾습니다. 이러한 기준의 몇 가지 예는 개인의 일반적인 건강 상태 또는 이전 치료입니다.

자격 기준

공부할 수 있는 나이

  • 어린이
  • 성인
  • 고령자

건강한 자원 봉사자를 받아들입니다

아니

설명

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).

공부 계획

이 섹션에서는 연구 설계 방법과 연구가 측정하는 내용을 포함하여 연구 계획에 대한 세부 정보를 제공합니다.

연구는 어떻게 설계됩니까?

디자인 세부사항

  • 주 목적: 치료
  • 할당: 해당 없음
  • 중재 모델: 단일 그룹 할당
  • 마스킹: 없음(오픈 라벨)

무기와 개입

참가자 그룹 / 팔
개입 / 치료
실험적: 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.

연구는 무엇을 측정합니까?

주요 결과 측정

결과 측정
기간
Safety and tolerability of PM577a. Quantified by frequency and severity of treatment emergent adverse events (TEAEs).
기간: Post-infusion through Week 48
Post-infusion through Week 48

2차 결과 측정

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

공동 작업자 및 조사자

여기에서 이 연구와 관련된 사람과 조직을 찾을 수 있습니다.

스폰서

연구 기록 날짜

이 날짜는 ClinicalTrials.gov에 대한 연구 기록 및 요약 결과 제출의 진행 상황을 추적합니다. 연구 기록 및 보고된 결과는 공개 웹사이트에 게시되기 전에 특정 품질 관리 기준을 충족하는지 확인하기 위해 국립 의학 도서관(NLM)에서 검토합니다.

연구 주요 날짜

연구 시작 (추정된)

2026년 9월 1일

기본 완료 (추정된)

2028년 11월 1일

연구 완료 (추정된)

2028년 12월 1일

연구 등록 날짜

최초 제출

2026년 7월 24일

QC 기준을 충족하는 최초 제출

2026년 7월 31일

처음 게시됨 (실제)

2026년 8월 5일

연구 기록 업데이트

마지막 업데이트 게시됨 (실제)

2026년 9월 15일

QC 기준을 충족하는 마지막 업데이트 제출

2026년 9월 11일

마지막으로 확인됨

2026년 9월 1일

추가 정보

이 연구와 관련된 용어

기타 연구 ID 번호

  • Prime-0201
  • 2025 (미국 NIH 보조금/계약: Faculty of Social Sciences Scientific Grant at the University of Gdańsk)
  • 2025-525034-62 (EudraCT 번호)

약물 및 장치 정보, 연구 문서

미국 FDA 규제 의약품 연구

예

미국 FDA 규제 기기 제품 연구

아니

미국에서 제조되어 미국에서 수출되는 제품

예

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