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Chinese Multicenter Registry for Peutz-Jeghers Syndrome

8 novembre 2026 aggiornato da: Kangyu, First People's Hospital of Hangzhou

This prospective, observational patient registry will enroll approximately 1,000 individuals with a clinical or molecular diagnosis of Peutz-Jeghers syndrome (PJS) at participating hospitals in China. The registry will collect standardized clinical information, existing genetic test reports, family history, and longitudinal outcomes. The primary objective is to estimate the 10-year cumulative incidence of a first invasive malignancy after enrollment among participants without a previous malignancy or an unresolved suspected malignancy at baseline, accounting for death as a competing event. Secondary objectives address organ-specific malignancies, new primary cancers in participants with a cancer history, mortality, major polyp-related complications, and clinical and STK11 variant characteristics. Participants may be followed for up to 20 years. Biospecimen donation, additional baseline sampling, research sequencing, and patient-derived organoid studies are optional and require the corresponding consent. Refusal of an optional component does not preclude participation in the clinical registry. No treatment or clinical surveillance strategy is assigned by the study.

Panoramica dello studio

Stato

Reclutamento

Condizioni

Descrizione dettagliata

Peutz-Jeghers syndrome is a rare inherited tumor-predisposition syndrome associated with gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and increased risks of several malignancies. This multicenter registry will document the clinical course of enrolled patients receiving usual care and will support carefully defined genotype-phenotype and translational research. It is a hospital-based, non-probability sample and is not designed to provide a probability-representative estimate for the entire Chinese PJS population.

The purpose of this study is to establish a nationwide multicenter registry of patients with PJS, integrating standardized clinical information, existing genetic reports, optional biospecimen studies and prospective follow-up. The primary objective is to estimate 10-year cumulative incidence of a first invasive malignancy among participants without previous or unresolved suspected malignancy at baseline. The study will support defined genotype-phenotype and translational analyses; it does not assign treatment or clinical surveillance.

Specific study objectives are listed below:

  1. Establish a standardized PJS clinical database to define the clinical characteristics and natural history of the disease in Chinese patients.
  2. Analyze the landscape of STK11 gene variants and the relationship between genotype and clinical phenotype.
  3. Establish an optional biobank of patients with PJS, using separately consented specimens, to provide resources for approved research.
  4. Establish separately consented patient-derived organoid models to investigate disease mechanisms and in vitro drug responses without directing patient treatment.
  5. Explore the development of a precision management system. The workflow includes consecutive recruitment, diagnostic confirmation, core registry consent, baseline clinical-data abstraction, prospective follow-up and outcome review. Biospecimen collection, research sequencing and organoid studies are optional components; refusal does not preclude enrollment.

The registry will implement standardized baseline clinical-data abstraction, prospective follow-up and outcome review, with historical medical information will be abstracted at baseline and distinguished from prospectively observed events. All eligible, consenting participants contribute to the clinical registry. Participants will be contacted approximately every 12 months through routine visits, telephone, or institution-approved remote methods. Clinical and genetic associations will account for family relationships, recruitment pathway, center, and relevant prespecified covariates. STK11 germline variants will be classified using the ACMG/AMP framework and applicable subsequent guidance, with the reference sequence, testing scope, evidence, and interpretation date documented. Germline and tumor-only findings will be distinguished. Untested participants, participants with limited testing, those with variants of uncertain significance, and those with adequately evaluated negative findings will not be combined into a single wild-type group.

The primary analysis will estimate the cumulative incidence function at 10 years using an Aalen-Johansen approach, with uncertainty accounting for family clustering when supported by the data. Attained-age analyses will use delayed entry at enrollment and will not treat the period before enrollment as prospectively observed person-time. Optional biospecimen studies prioritize clinical residual material. No research-only tissue biopsy or enlargement of a clinical resection is permitted.Research sequencing, multi-omics, and patient-derived organoid or tumor-organoid studies will be performed only in authorized, suitable subsets. Laboratory and analytical methods will distinguish biological participants from repeated specimens or culture wells. Predictive biomarker analyses require pre-outcome specimens and family-separated validation. Research findings will not direct clinical treatment; clinically meaningful findings considered for return require appropriate confirmation, counseling, and the participant's documented preference.

Tipo di studio

Osservativo

Iscrizione (Stimato)

1000

Contatti e Sedi

Questa sezione fornisce i recapiti di coloro che conducono lo studio e informazioni su dove viene condotto lo studio.

Contatto studio

Luoghi di studio

  • Cina
      • Beijing, Cina
        • Non ancora reclutamento
        • Peking University Third Hospital
        • Contatto:
      • Shanghai, Cina
        • Non ancora reclutamento
        • Fudan University Shanghai Cancer Center
        • Contatto:
      • Shanghai, Cina
        • Non ancora reclutamento
        • Obstetrics & Gynecology Hospital of Fudan University
        • Contatto:
      • Tianjin, Cina
        • Non ancora reclutamento
        • The Second Hospital of Tianjin Medical University
        • Contatto:
    • Fujian
      • Fuzhou, Fujian, Cina
        • Non ancora reclutamento
        • Fujian Maternity and Child Health Care Hospital
        • Contatto:
    • Guangdong
      • Guangzhou, Guangdong, Cina
        • Non ancora reclutamento
        • Sun Yat-sen University Cancer Center
        • Contatto:
    • Shandong
      • Jinan, Shandong, Cina
        • Non ancora reclutamento
        • Qilu Hospital of Shandong University
        • Contatto:
    • Zhejiang
      • Hangzhou, Zhejiang, Cina
      • Hangzhou, Zhejiang, Cina
        • Non ancora reclutamento
        • Zhejiang Cancer Hospital
        • Contatto:

Criteri di partecipazione

I ricercatori cercano persone che corrispondano a una certa descrizione, chiamata criteri di ammissibilità. Alcuni esempi di questi criteri sono le condizioni generali di salute di una persona o trattamenti precedenti.

Criteri di ammissibilità

Età idonea allo studio

  • Bambino
  • Adulto
  • Adulto più anziano

Accetta volontari sani

No

Sessi ammissibili allo studio

Tutto

Metodo di campionamento

Campione non probabilistico

Popolazione di studio

Individuals with a confirmed clinical or molecular diagnosis of PJS who receive care at participating centers in China. Recruitment will be consecutive where feasible. Previous cancer does not preclude registry enrollment. Diagnostically unconfirmed relatives are not independently enrolled under this version. Relatives who independently meet clinical or molecular diagnostic criteria may enroll with separate consent and a unique individual identifier linked to a pedigree.

Descrizione

Inclusion Criteria:

  • A clinical diagnosis of PJS meeting at least one of the following: two or more histologically confirmed Peutz-Jeghers polyps; any number of Peutz-Jeghers polyps and a family history of PJS; characteristic mucocutaneous pigmentation and a family history of PJS; or any number of Peutz-Jeghers polyps together with characteristic mucocutaneous pigmentation. Alternatively, a molecular diagnosis established by a confirmed germline pathogenic or likely pathogenic STK11 variant associated with PJS, interpreted by appropriately qualified professionals.
  • Valid written informed consent for the core clinical registry from the participant or the legally appropriate guardian, with age- and capacity-appropriate information and assent when applicable.
  • Minimum clinical or genetic documentation sufficient to confirm eligibility and agreement to at least one feasible method of longitudinal contact or record-based follow-up within the approved consent.

Biospecimen donation, availability of all specimen types, and participation in research sequencing or organoid experiments are not required for clinical registry enrollment.

Exclusion Criteria:

  • Neither the clinical nor molecular diagnostic pathway can be confirmed. A variant of uncertain significance alone does not satisfy molecular eligibility.
  • Absence of valid consent for the core registry. Duplicate records of the same individual will be merged rather than counted as additional participants. Inability or refusal to undergo an optional sample procedure is not a registry exclusion criterion. Procedure-specific safety restrictions affect that procedure only.

Piano di studio

Questa sezione fornisce i dettagli del piano di studio, compreso il modo in cui lo studio è progettato e ciò che lo studio sta misurando.

Come è strutturato lo studio?

Dettagli di progettazione

  • Modelli osservazionali: COHORT
  • Prospettive temporali: PROSPECTIVE

Coorti e interventi

Gruppo / Coorte
Peutz-Jeghers syndrome

Individuals meeting protocol-defined clinical diagnostic criteria or carrying a confirmed germline pathogenic or likely pathogenic STK11 variant associated with PJS. Participants with and without previous cancer may enroll. Optional biospecimen and genetic components do not determine clinical registry eligibility.

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato
Misura Descrizione
Lasso di tempo
10-year cumulative incidence of a first invasive malignancy
Lasso di tempo: From enrollment to 10 years after enrollment, first invasive malignancy, death, withdrawal, or last reliable event-free assessment, as applicable.

Time from registry enrollment to the first confirmed invasive malignant neoplasm among participants with no previous malignancy and no unresolved suspected malignancy at baseline. Pathology will be the preferred evidence for solid tumors; hematologic malignancies will follow the relevant diagnostic criteria. Benign lesions, in situ disease, recurrence, progression, and metastases from an existing primary are excluded from this endpoint. The cumulative incidence at 10 years will be estimated with death before malignancy as a competing event. Participants with previous malignancy are not included in this primary risk set.
From enrollment to 10 years after enrollment, first invasive malignancy, death, withdrawal, or last reliable event-free assessment, as applicable.

Misure di risultato secondarie

Misura del risultato
Misura Descrizione
Lasso di tempo
Organ-specific cumulative incidence of a new primary invasive malignancy
Lasso di tempo: From enrollment up to 20 years; estimates at 5, 10, and 20 years where supported.

First new primary invasive malignancy at each specified organ site, analyzed separately among participants without a previous malignancy at that site and with the relevant organ at risk at baseline. Site and histologic type will be recorded. Death and removal of the at-risk organ without target cancer will be handled according to the prespecified competing-risk or multistate analysis. In situ disease and metastases will not be counted as new primary invasive cancers.
From enrollment up to 20 years; estimates at 5, 10, and 20 years where supported.
Cumulative incidence of a subsequent new primary invasive malignancy in participants with a cancer history
Lasso di tempo: From enrollment up to 20 years.

Time from enrollment to the next confirmed new primary invasive malignancy among participants with a malignancy diagnosed before enrollment. New primary disease will be distinguished by clinical review from recurrence, progression, and metastasis of an existing cancer. Death before a subsequent primary cancer is a competing event.
From enrollment up to 20 years.
All-cause mortality
Lasso di tempo: From enrollment up to 20 years; summaries at 5, 10, and 20 years where supported.

Time from enrollment to death from any cause among all enrolled participants. Death dates and evidence sources will be recorded. Participants not known to have died will be censored at the last date on which they were known to be alive or the applicable end of follow-up. Survival probabilities and death rates will be reported.
From enrollment up to 20 years; summaries at 5, 10, and 20 years where supported.
Cumulative incidence of cancer-related death
Lasso di tempo: From enrollment up to 20 years.

Time from enrollment to death attributed to malignancy, based on available medical records, death documentation, and outcome review. Non-cancer death is a competing event. Deaths of uncertain cause will be recorded separately and included in sensitivity analyses.
From enrollment up to 20 years.
Cumulative incidence of a first major polyp-related complication
Lasso di tempo: From enrollment up to 20 years.

Time from enrollment to the first episode of intussusception, bowel obstruction, or gastrointestinal bleeding that results in hospitalization, emergency surgery or endoscopic treatment, or transfusion. Preventive polypectomy without an acute complication is excluded. Repeat episodes and the individual components will also be documented and summarized separately.
From enrollment up to 20 years.
Age at clinical diagnosis of PJS
Lasso di tempo: At enrollment, using available historical records.

Age, in years, when the participant first met documented clinical diagnostic criteria for PJS. The evidence source and precision of the date will be recorded. Median, interquartile range, and the number with available information will be reported; molecularly ascertained participants without a clinical diagnosis will be identified separately.
At enrollment, using available historical records.
Baseline gastrointestinal polyp involvement by anatomical site
Lasso di tempo: At enrollment, using available historical and baseline records.

Number and proportion of participants with documented PJS-related polyps in each gastrointestinal site before or at baseline, with sites reported separately. Each proportion will use the number with sufficient information for that site as its denominator; unassessed or unknown sites will not be coded as negative.
At enrollment, using available historical and baseline records.
Distribution of documented STK11 germline variant classifications and variant types
Lasso di tempo: At enrollment; updated classifications retained separately during follow-up.

Counts and proportions of participants and independent families by STK11 germline variant classification and predefined variant type. Testing method, scope, and interpretation date will be documented. Pathogenic/likely pathogenic findings, variants of uncertain significance, adequately assessed negative findings, limited testing, and no testing will be reported separately. Genotype-phenotype association analyses use the clinical endpoints defined elsewhere and are exploratory.
At enrollment; updated classifications retained separately during follow-up.

Collaboratori e investigatori

Qui è dove troverai le persone e le organizzazioni coinvolte in questo studio.

Sponsor

First People's Hospital of Hangzhou

Pubblicazioni e link utili

La persona responsabile dell'inserimento delle informazioni sullo studio fornisce volontariamente queste pubblicazioni. Questi possono riguardare qualsiasi cosa relativa allo studio.

Pubblicazioni generali

Studiare le date dei record

Queste date tengono traccia dell'avanzamento della registrazione dello studio e dell'invio dei risultati di sintesi a ClinicalTrials.gov. I record degli studi e i risultati riportati vengono esaminati dalla National Library of Medicine (NLM) per assicurarsi che soddisfino specifici standard di controllo della qualità prima di essere pubblicati sul sito Web pubblico.

Studia le date principali

Inizio studio (Stimato)

1 novembre 2026

Completamento primario (Stimato)

1 ottobre 2046

Completamento dello studio (Stimato)

1 ottobre 2056

Date di iscrizione allo studio

Primo inviato

16 ottobre 2026

Primo inviato che soddisfa i criteri di controllo qualità

16 ottobre 2026

Primo Inserito (Effettivo)

22 ottobre 2026

Aggiornamenti dei record di studio

Ultimo aggiornamento pubblicato (Effettivo)

12 novembre 2026

Ultimo aggiornamento inviato che soddisfa i criteri QC

8 novembre 2026

Ultimo verificato

1 novembre 2026

Maggiori informazioni

Termini relativi a questo studio

Parole chiave

Termini MeSH pertinenti aggiuntivi

Altri numeri di identificazione dello studio

  • HEIR-PJS-2026

Piano per i dati dei singoli partecipanti (IPD)

Hai intenzione di condividere i dati dei singoli partecipanti (IPD)?

NO

Informazioni su farmaci e dispositivi, documenti di studio

Studia un prodotto farmaceutico regolamentato dalla FDA degli Stati Uniti

No

Studia un dispositivo regolamentato dalla FDA degli Stati Uniti

No

Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .

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