A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD) (PM577a)
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.
調査の概要
詳細な説明
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.
研究の種類
入学 (推定)
段階
- フェーズ2
- フェーズ 1
連絡先と場所
研究場所
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Illinois
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Chicago、Illinois、アメリカ、60611
- まだ募集していません
- Northwestern University Division of Gastroenterology and Hepatology
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コンタクト:
- Amanda Cheung, MD
- 電話番号:312-695-8178
- メール:irene.coronaavila@northwestern.edu
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Texas
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San Antonio、Texas、アメリカ、78215
- 募集
- ARC Texas Liver Institute
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コンタクト:
- Eric Lawitz, MD
- 電話番号:210-253-3426
- メール:lawitz@txliver.com
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コンタクト:
- Tolu Okubote
- 電話番号:210-890-5851
- メール:tokubote@txliver.com
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Auckland
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Grafton、Auckland、ニュージーランド、1010
- 募集
- New Zealand Clinical Research (NZCR)
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コンタクト:
- Ed Gane, MD
- 電話番号:7031 + 64 9 373 3474
- メール:liberty.auckland@nzcr.co.nz
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参加基準
適格基準
就学可能な年齢
- 子
- 大人
- 高齢者
健康ボランティアの受け入れ
説明
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:
- Known or suspected active systemic infection
- Receipt of systemic antimicrobial therapy within 30 days of screening.
- 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:
- Clinical evidence of unstable coronary disease as defined by history of myocardial infarction in the past 24 months, history of unstable angina
- 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).
研究計画
研究はどのように設計されていますか?
デザインの詳細
- 主な目的:処理
- 割り当て:なし
- 介入モデル:単一グループの割り当て
- マスキング:なし(オープンラベル)
武器と介入
参加者グループ / アーム |
介入・治療 |
|---|---|
|
実験的: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.
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この研究は何を測定していますか?
主要な結果の測定
結果測定 |
時間枠 |
|---|---|
|
Safety and tolerability of PM577a. Quantified by frequency and severity of treatment emergent adverse events (TEAEs).
時間枠:Post-infusion through Week 48
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Post-infusion through Week 48
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二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
Frequency and severity of Dose Limiting Toxicities (DLTs)
時間枠:Infusion through the 14-day post infusion DLT observation period
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Infusion through the 14-day post infusion DLT observation period
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|
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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.
時間枠:Infusion through Week 48
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Infusion through Week 48
|
|
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Percent of participants with non-ceruloplasmin bound copper (NCC)
時間枠:Weeks 12, 24, and 48 post-infusion
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Weeks 12, 24, and 48 post-infusion
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|
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Percent change from baseline in ceruloplasmin levels
時間枠:From PM577a infusion to Weeks 4, 6, 9, 12, 24, and 48 post-infusion
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From PM577a infusion to Weeks 4, 6, 9, 12, 24, and 48 post-infusion
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|
|
Percent of participants with ceruloplasmin within the normal range
時間枠:Weeks 4, 6, 9, 12, 24, and 48 post-infusion
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Weeks 4, 6, 9, 12, 24, and 48 post-infusion
|
|
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Percent of participants with improved non-ceruloplasmin bound copper measured by protein speciation (NCC-Sp)
時間枠:Weeks 12, 24, and 48 post-infusion of PM577a
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Weeks 12, 24, and 48 post-infusion of PM577a
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Change in serum radiocopper ratio
時間枠:24 hours/2 hours post-64Cu injection from baseline to Week 6 or later post-infusion of PM577a
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24 hours/2 hours post-64Cu injection from baseline to Week 6 or later post-infusion of PM577a
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Percent change in liver copper efflux
時間枠:1.5 hours and 20 hours post 64Cu injection from baseline to Week 6 or later post-infusion of PM577a
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Measured by hepatic 64Cu PET standard uptake value (SUV)
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1.5 hours and 20 hours post 64Cu injection from baseline to Week 6 or later post-infusion of PM577a
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Percentage of participants off of standard of care
時間枠:Weeks 12 and 48 post-infusion of PM577a
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Weeks 12 and 48 post-infusion of PM577a
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On-target editing
時間枠:Weeks 24 and 48 post-infusion
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Measured by liver biopsy specimen
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Weeks 24 and 48 post-infusion
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Percent change in Liver Copper Concentration
時間枠:From baseline to Week 24, and to Week 48 post PM577a infusion
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Assessed by liver biopsy
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From baseline to Week 24, and to Week 48 post PM577a infusion
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Change in Liver Stiffness
時間枠:from baseline to Week 48 post PM577a infusion
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Measured using transient or shear wave elastography
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from baseline to Week 48 post PM577a infusion
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Evaluation of health-related quality of life (HRQoL) as compared to baseline
時間枠:From baseline through study completion (Week 48)
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Measured using the age-appropriate EuroQol 5 Dimension 5-Level instrument (EQ-5D-5L)
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From baseline through study completion (Week 48)
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Percent of participants with stable or improved modified Unified Wilson's Disease Rating Scale (mUWDRS) score
時間枠: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.
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Week 48 post PM577a infusion compared to baseline
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Percent of participants with stable or improved score on the Clinical Global Impression Improvement Scale (CGI-I)
時間枠:Measured over the course of the study (through Week 48) compared to baseline
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Scores range from 1-7.
Lower scores indicate a better outcome.
|
Measured over the course of the study (through Week 48) compared to baseline
|
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Percent of participants with stable or improved score on the Clinical Global Impression Severity Scale (CGI-S)
時間枠: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
|
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Percent of participants with stable or improved Model for End-Stage Liver Disease (MELD) score
時間枠:Measured at Week 48 post PM577a infusion compared to baseline
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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
|
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Percent of participants with stable or improved modified Nazer score
時間枠:Measured at Week 48 post PM577a infusion compared to baseline
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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.
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Measured at Week 48 post PM577a infusion compared to baseline
|
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Percent change in 24-hour urinary copper excretion (UCE)
時間枠:From baseline to Weeks 12, 24, and 48 post PM577a infusion
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For participants who are not on standard of care at the specified timepoint
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From baseline to Weeks 12, 24, and 48 post PM577a infusion
|
協力者と研究者
スポンサー
研究記録日
主要日程の研究
研究開始 (推定)
一次修了 (推定)
研究の完了 (推定)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (実際)
学習記録の更新
投稿された最後の更新 (実際)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
本研究に関する用語
キーワード
追加の関連 MeSH 用語
その他の研究ID番号
- Prime-0201
- 2025 (米国 NIH グラント/契約:Faculty of Social Sciences Scientific Grant at the University of Gdańsk)
- 2025-525034-62 (EudraCT番号)
医薬品およびデバイス情報、研究文書
米国FDA規制医薬品の研究
米国FDA規制機器製品の研究
米国で製造され、米国から輸出された製品。
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