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Pyruvaatkinasedeficiëntie Wereldwijd longitudinaal register (PEAK Registry)

27 oktober 2026 bijgewerkt door: Agios Pharmaceuticals, Inc.

This study is an observational (ie, noninterventional), longitudinal, multicenter, global registry for patients with pyruvate kinase (PK) deficiency, a rare nonspherocytic hemolytic anemia.

This Registry will be open for enrollment for 7 years and all enrolled participants will be followed prospectively for a minimum of 2 years, and up to 9 years.

Data will be collected from participating Registry Physicians, participants, and, where appropriate, parents/guardians who have provided informed consent or assent (where relevant) and authorization pursuant to applicable laws and regulations.

Data should include demographic, clinical, and treatment data; and other data of relevance to the management of patients with PK deficiency. Annual chart review and data entry are expected in order to enhance longitudinal understanding of PK deficiency; however, no specific protocol schedule of assessment is required by this Registry protocol.

Studie Overzicht

Toestand

Actief, niet wervend

Conditie

Gedetailleerde beschrijving

Data will be submitted to the Registry via electronic case report forms (eCRFs). Relevant datasets, such as historical trial data, claims, medical records, or central lab data will be electronically integrated into the Registry or Registry reporting data sets.

Participants of all ages with a confirmed diagnosis of PK deficiency via genetic testing will be eligible to participate in this Registry. Diagnosis may be made on the basis of clinical features consistent with PK deficiency together with the presence of 2 or more PKLR gene mutations.

For novel or indeterminate PKLR gene mutations, participants will be deemed eligible if, in the opinion of the investigator, the reported PKLR gene mutations are sufficient to support a diagnosis of PK deficiency. Pyruvate kinase deficiency-relevant data will be entered by Registry Physicians or their designee for any and all participant visits. Disease parameters (eg, hemoglobin, reticulocyte counts), treatment and management options (splenectomy, transfusions, iron chelation, bone marrow transplant or pharmacological therapies) and resource utilization (eg, hospitalizations) will be evaluated to describe the natural history, treatments and outcomes, variability in clinical care and disease burden in patients with PK deficiency.

As a longitudinal observational study, the PK deficiency Registry may also serve as a data collection platform to address specific research objectives that may emerge over the duration of the study.

All data collection efforts will abide by this protocol and be prospectively disclosed in the Registry informed consent. If new assessments become of interest, they may be addressed via specific substudies (eg, patient-reported outcomes, biobanking), each requiring their own specific protocol and consent approved by Institutional Review Broad/Independent Ethics Committee (IRB/IEC). These studies may utilize a decentralized operational model with remote data capture. An IRB/IEC approved PEAK participant invitation process and participant self-opt-in registration may be utilized where country regulations and site policies allow.

This Registry, with the appropriate participant (and or parent/guardian) consent/assent, may incorporate retrospective data from other properly consented studies done for the purpose of examining the longitudinal natural history of PK deficiency. As necessary, data integration plan(s) will be developed to allow efficient and fit-for-purpose integration of data from other studies or data sets into this Registry.

Separate detailed statistical analysis plans (SAPs), addressing specific objectives, will be developed before the analyses during and at the end of the study. Due to the nature of the observational study, most statistical analyses will focus on descriptive statistics, including estimates and confidence intervals (CI) as appropriate. Additional statistical modeling of the data may be conducted. However, any p-values reported for hypothesis testing will be considered exploratory and therefore hypothesis-generating by nature. All data will be analyzed as collected in the database. Missing data, in general, will not be imputed; the modeling, eg, repeated measures mixed-effect models (MMRM) or generalized linear mixed effect model (GLIMMIX) will make use of all available data in the analyses. Any additional imputation techniques, if deemed necessary, will be discussed in the statistical analysis plan(s).

To ensure compliance with Good Clinical Practice and all applicable regulatory requirements, the Sponsor and its representatives will conduct and manage several plans that will ensure quality control. These will include:

  • A documented sourcing procedure for all representatives and technology managing, collecting, or reporting on Registry data
  • Assurance of FDA 21 CFR Part 11, EU-US Privacy Shield, and equivalent regulations regarding data security, controls, and audit trail of study data
  • Assurance of the European Union regulation 2016/679 describing the appropriate use of personal data in scientific research
  • Practices and methods for the protection of all participant privacy in relation to study data collection
  • A training plan for site initiation and documentation
  • Data entry guidelines that will assist all study sites with the completion of eCRFs
  • A data monitoring and management plan that will outline the processes and procedures for reviewing, querying, and resolving data quality issues with study sites
  • A site monitoring plan for the Sponsor and its representatives that will outline the frequency, requirements, and nature of the site monitoring visits for purposes of insuring data quality.

The Registry will be overseen by a Scientific Steering Committee, comprised of international experts involved in the research, diagnosis, and/or care of patients with PK deficiency. The Scientific Steering Committee's activities may include further defining the objectives and scientific direction of the Registry, advising on additional clinical data to be captured, and facilitating analysis and dissemination of Registry data via medical conferences and peer-reviewed publications.

Studietype

Observationeel

Inschrijving (Werkelijk)

500

Contacten en locaties

In dit gedeelte vindt u de contactgegevens van degenen die het onderzoek uitvoeren en informatie over waar dit onderzoek wordt uitgevoerd.

Studie Locaties

  • Canada
    • Ontario
      • Hamilton, Ontario, Canada, L8N 4A6
        • Saint Josephs Healthcare System
      • Toronto, Ontario, Canada, M5G 2C4
        • Toronto General Hospital
    • Quebec
      • Montreal, Quebec, Canada, H3T 1C5
        • St. Justine Hospital
  • Denemarken
      • Herlev, Denemarken, 2730
        • Copenhagen University Hospital
  • Duitsland
      • Berlin, Duitsland, 13353
        • Charite - Universitatsmedizin Berlin
      • Bielefeld, Duitsland, 33617
        • Evangelisches Krankenhaus Bielefeld gGmbH
      • Heidelberg, Duitsland, 69120
        • Universitatsklinikum Heidelberg
      • Munich, Duitsland, 81377
        • Kinder- und Jugendarztpraxis
      • Würzburg, Duitsland, 97080
        • Universitatsklinikum Wurzburg
  • Frankrijk
      • Paris, Frankrijk, 75743
        • Hopital Necker
  • Ierland
      • Dublin, Ierland, D08 NHY1
        • St James's Hospital
  • Italië
      • Milan, Italië, 20122
        • Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
      • Roma, Italië, 144
        • Ospedale S Eugenio
    • Abruzzo
      • Pescara, Abruzzo, Italië, 65125
        • Presidio Ospedaliero di Pescara
    • Campania
      • Naples, Campania, Italië
        • AOU dell'Universita degli Studi della Campania Luigi Vanvitelli
    • Liguria
      • Genoa, Liguria, Italië, 16128
        • E O Ospedali Galliera
  • Nederland
      • Utrecht, Nederland, 3508 GA
        • Universitair Medisch Centrum Utrecht
  • Portugal
      • Coimbra, Portugal, 3041-853
        • Centro Hospitalar E Universitario de Coimbra EPE
      • Lisbon, Portugal, 1169-045
        • Centro Hospitalar Lisboa Central- Hospital Dona Estefania
      • Porto, Portugal, 4200-072
        • Centro Hospitalar de Vila Nova de Gaia / Espinho E.P.E
  • Spanje
      • Barcelona, Spanje, 08035
        • Hospital Universitario Vall d'Hebron - PPDS
      • Barcelona, Spanje, 8041
        • Hospital de La Santa Creu i Sant Pau
      • Madrid, Spanje, 28046
        • Hospital Universitario La Paz
      • Madrid, Spanje, 28009
        • Hospital Infantil Universitario Nino Jesus
      • Tortosa, Spanje, 43500
        • Hospital de Tortosa Verge de la Cinta
    • Barcelona
      • Badalona, Barcelona, Spanje, 08916
        • Hospital Universitario Germans Trias i Pujol
      • Esplugues de Llobregat, Barcelona, Spanje, 08950
        • Hospital Sant Joan de Deu - PIN
  • Thailand
      • Bangkok, Thailand
        • Siriraj Hospital Mahidol University
  • Tsjechië
      • Olomouc, Tsjechië, 779 00
        • Fakultni nemocnice Olomouc
      • Prague, Tsjechië, 150 06
        • Fakultni nemocnice v Motole
      • Prague, Tsjechië, 128 20
        • Ustav hematologie a krevni transfuze
  • Turkije (Türkiye)
      • Ankara, Turkije (Türkiye)
        • Hacettepe University Medical Faculty
  • Verenigd Koninkrijk
      • London, Verenigd Koninkrijk, SE5 9RS
        • Kings College Hospital
      • Newcastle upon Tyne, Verenigd Koninkrijk, NE1 4LP
        • The Newcastle Upon Tyne Hospitals NHS Foundation Trust
    • London, City of
      • London, London, City of, Verenigd Koninkrijk, W12 0HS
        • Hammersmith Hospital
  • Verenigde Staten
    • Arizona
      • Phoenix, Arizona, Verenigde Staten, 85016
        • Phoenix Childrens Hospital
    • Arkansas
      • Little Rock, Arkansas, Verenigde Staten, 72205
        • University of Arkansas for Medical Sciences
      • Little Rock, Arkansas, Verenigde Staten, 72202
        • Arkansas Children's Hospital
    • California
      • Orange, California, Verenigde Staten, 92868
        • Children's Hospital of Orange County
      • Palo Alto, California, Verenigde Staten, 94304
        • Stanford University Medical Center
    • Georgia
      • Atlanta, Georgia, Verenigde Staten, 30342
        • Children's Healthcare of Atlanta
    • Massachusetts
      • Boston, Massachusetts, Verenigde Staten, 02114
        • Massachusetts General Hospital
      • Boston, Massachusetts, Verenigde Staten, 02115
        • Boston Children's Hospital
      • Worcester, Massachusetts, Verenigde Staten, 01655-0002
        • UMass Memorial Medical Center
    • Michigan
      • Detroit, Michigan, Verenigde Staten, 48201
        • Children's Hospital of Michigan
    • North Carolina
      • Durham, North Carolina, Verenigde Staten, 27710
        • Duke University Medical Center
    • Pennsylvania
      • Philadelphia, Pennsylvania, Verenigde Staten, 19104
        • Children's Hospital of Philadelphia
    • Tennessee
      • Memphis, Tennessee, Verenigde Staten, 38105
        • St Jude Children's Research Hospital
    • Utah
      • Salt Lake City, Utah, Verenigde Staten, 84113
        • Primary Children's Hospital
    • Vermont
      • Burlington, Vermont, Verenigde Staten, 05401
        • University of Vermont Medical Center
  • Zuid -Korea
      • Seoul, Zuid -Korea
        • The Catholic University of Korea, Seoul St. Mary's Hospital
  • Zwitserland
      • Lausanne, Zwitserland, CH 1011
        • Centre Hospitalier Universitaire Vaudois

Deelname Criteria

Onderzoekers zoeken naar mensen die aan een bepaalde beschrijving voldoen, de zogenaamde geschiktheidscriteria. Enkele voorbeelden van deze criteria zijn iemands algemene gezondheidstoestand of eerdere behandelingen.

Geschiktheidscriteria

Leeftijden die in aanmerking komen voor studie

  • Kind
  • Volwassen
  • Oudere volwassene

Accepteert gezonde vrijwilligers

Nee

Geslachten die in aanmerking komen voor studie

Allemaal

Bemonsteringsmethode

Niet-waarschijnlijkheidssteekproef

Studie Bevolking

Patients will be recruited or referred by physicians who treat hemolytic anemias at approximately 60 sites in approximately 20 countries.

Beschrijving

Inclusion Criteria:

  • Participants of all ages with a confirmed diagnosis of PK deficiency via genetic testing are eligible to enroll;
  • Participants will be considered for enrollment on the basis of clinical features consistent with PK deficiency together with the presence of 2 or more PKLR gene mutations. For novel or indeterminate PKLR gene mutations, participants will be deemed eligible if, in the opinion of the investigator, the reported PKLR gene mutations are sufficient to support a diagnosis of PK deficiency;
  • The participant or the parent/guardian of the participant must be willing and able to give written informed consent and/or assent. E-consent or remote consent may be utilized where permissible as applicable if country regulations and site policies allow.

Studie plan

Dit gedeelte bevat details van het studieplan, inclusief hoe de studie is opgezet en wat de studie meet.

Hoe is de studie opgezet?

Ontwerpdetails

  • Observatiemodellen: COHORT
  • Tijdsperspectieven: PROSPECTIVE

Cohorten en interventies

Groep / Cohort
PKD Diagnosed

Participants diagnosed with PK deficiency by the presence of 2 or more PKLR gene mutations as well as clinical features.

Wat meet het onderzoek?

Primaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
Clinical Course of PK Deficiency
Tijdsspanne: 9 years

To develop an understanding of the longitudinal clinical implications of PK deficiency, including disease natural history, treatments and outcomes, and variability in clinical care and disease burden.
9 years

Secundaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
Severity of Disease
Tijdsspanne: 9 years

To understand the prevalence, incidence, and severity of complications associated with PK deficiency.
9 years
Disease Impact on Pregnancy
Tijdsspanne: 9 years

To evaluate pregnancy outcomes.
9 years
Clinical Management Assistance
Tijdsspanne: 9 years

To provide a source of longitudinal data to assist physicians with clinical management of individual patients.
9 years
Global Repository
Tijdsspanne: 9 years

To act as a global repository for potential data from other properly consented PK deficiency-related studies to support aggregate and comparative analyses.
9 years

Andere uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
Genetic
Tijdsspanne: 9 years

To examine a possible correlation between PKLR genotype and PK deficiency clinical phenotype.
9 years

Medewerkers en onderzoekers

Hier vindt u mensen en organisaties die betrokken zijn bij dit onderzoek.

Sponsor

Agios Pharmaceuticals, Inc.

Onderzoekers

  • Studie stoel: Eva Gallagher, VP, Medical Affairs, Agios Pharmaceuticals, Inc.

Publicaties en nuttige links

De persoon die verantwoordelijk is voor het invoeren van informatie over het onderzoek stelt deze publicaties vrijwillig ter beschikking. Dit kan gaan over alles wat met het onderzoek te maken heeft.

Algemene publicaties

Nuttige links

Studie record data

Deze datums volgen de voortgang van het onderzoeksdossier en de samenvatting van de ingediende resultaten bij ClinicalTrials.gov. Studieverslagen en gerapporteerde resultaten worden beoordeeld door de National Library of Medicine (NLM) om er zeker van te zijn dat ze voldoen aan specifieke kwaliteitscontrolenormen voordat ze op de openbare website worden geplaatst.

Bestudeer belangrijke data

Studie start (Werkelijk)

23 april 2018

Primaire voltooiing (Geschat)

31 mei 2027

Studie voltooiing (Geschat)

31 mei 2027

Studieregistratiedata

Eerst ingediend

22 maart 2018

Eerst ingediend dat voldeed aan de QC-criteria

22 maart 2018

Eerst geplaatst (Werkelijk)

29 maart 2018

Updates van studierecords

Laatste update geplaatst (Werkelijk)

28 oktober 2026

Laatste update ingediend die voldeed aan QC-criteria

27 oktober 2026

Laatst geverifieerd

1 oktober 2026

Meer informatie

Termen gerelateerd aan deze studie

Trefwoorden

Aanvullende relevante MeSH-voorwaarden

Andere studie-ID-nummers

  • AG348-C-008

Plan Individuele Deelnemersgegevens (IPD)

Bent u van plan om gegevens van individuele deelnemers (IPD) te delen?

ONBESLIST

Informatie over medicijnen en apparaten, studiedocumenten

Bestudeert een door de Amerikaanse FDA gereguleerd geneesmiddel

Nee

Bestudeert een door de Amerikaanse FDA gereguleerd apparaatproduct

Nee

Deze informatie is zonder wijzigingen rechtstreeks van de website clinicaltrials.gov gehaald. Als u verzoeken heeft om uw onderzoeksgegevens te wijzigen, te verwijderen of bij te werken, neem dan contact op met register@clinicaltrials.gov. Zodra er een wijziging wordt doorgevoerd op clinicaltrials.gov, wordt deze ook automatisch bijgewerkt op onze website .

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