Pyruvat Kinase Deficiency Global Longitudinal Registry (PEAK Registry)
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.
Studieoversigt
Status
Betingelser
Detaljeret beskrivelse
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.
Undersøgelsestype
Tilmelding (Faktiske)
Kontakter og lokationer
Studiesteder
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Ontario
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Hamilton, Ontario, Canada, L8N 4A6
- Saint Josephs Healthcare System
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Toronto, Ontario, Canada, M5G 2C4
- Toronto General Hospital
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Quebec
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Montreal, Quebec, Canada, H3T 1C5
- St. Justine Hospital
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Herlev, Danmark, 2730
- Copenhagen University Hospital
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London, Det Forenede Kongerige, SE5 9RS
- Kings College Hospital
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Newcastle upon Tyne, Det Forenede Kongerige, NE1 4LP
- The Newcastle Upon Tyne Hospitals NHS Foundation Trust
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London, City of
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London, London, City of, Det Forenede Kongerige, W12 0HS
- Hammersmith Hospital
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Arizona
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Phoenix, Arizona, Forenede Stater, 85016
- Phoenix Childrens Hospital
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Arkansas
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Little Rock, Arkansas, Forenede Stater, 72205
- University of Arkansas for Medical Sciences
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Little Rock, Arkansas, Forenede Stater, 72202
- Arkansas Children's Hospital
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California
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Orange, California, Forenede Stater, 92868
- Children's Hospital of Orange County
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Palo Alto, California, Forenede Stater, 94304
- Stanford University Medical Center
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Georgia
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Atlanta, Georgia, Forenede Stater, 30342
- Children's Healthcare of Atlanta
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Massachusetts
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Boston, Massachusetts, Forenede Stater, 02114
- Massachusetts General Hospital
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Boston, Massachusetts, Forenede Stater, 02115
- Boston Children's Hospital
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Worcester, Massachusetts, Forenede Stater, 01655-0002
- UMass Memorial Medical Center
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Michigan
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Detroit, Michigan, Forenede Stater, 48201
- Children's Hospital of Michigan
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North Carolina
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Durham, North Carolina, Forenede Stater, 27710
- Duke University Medical Center
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Pennsylvania
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Philadelphia, Pennsylvania, Forenede Stater, 19104
- Children's Hospital of Philadelphia
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Tennessee
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Memphis, Tennessee, Forenede Stater, 38105
- St Jude Children's Research Hospital
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Utah
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Salt Lake City, Utah, Forenede Stater, 84113
- Primary Children's Hospital
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Vermont
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Burlington, Vermont, Forenede Stater, 05401
- University of Vermont Medical Center
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Paris, Frankrig, 75743
- Hopital Necker
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Utrecht, Holland, 3508 GA
- Universitair Medisch Centrum Utrecht
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Dublin, Irland, D08 NHY1
- St James's Hospital
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Milan, Italien, 20122
- Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
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Roma, Italien, 144
- Ospedale S Eugenio
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Abruzzo
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Pescara, Abruzzo, Italien, 65125
- Presidio Ospedaliero di Pescara
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Campania
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Naples, Campania, Italien
- AOU dell'Universita degli Studi della Campania Luigi Vanvitelli
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Liguria
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Genoa, Liguria, Italien, 16128
- E O Ospedali Galliera
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Coimbra, Portugal, 3041-853
- Centro Hospitalar E Universitario de Coimbra EPE
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Lisbon, Portugal, 1169-045
- Centro Hospitalar Lisboa Central- Hospital Dona Estefania
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Porto, Portugal, 4200-072
- Centro Hospitalar de Vila Nova de Gaia / Espinho E.P.E
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Lausanne, Schweiz, CH 1011
- Centre Hospitalier Universitaire Vaudois
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Barcelona, Spanien, 08035
- Hospital Universitario Vall d'Hebron - PPDS
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Barcelona, Spanien, 8041
- Hospital de La Santa Creu i Sant Pau
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Madrid, Spanien, 28046
- Hospital Universitario La Paz
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Madrid, Spanien, 28009
- Hospital Infantil Universitario Nino Jesus
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Tortosa, Spanien, 43500
- Hospital de Tortosa Verge de la Cinta
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Barcelona
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Badalona, Barcelona, Spanien, 08916
- Hospital Universitario Germans Trias i Pujol
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Esplugues de Llobregat, Barcelona, Spanien, 08950
- Hospital Sant Joan de Deu - PIN
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Seoul, Sydkorea
- The Catholic University of Korea, Seoul St. Mary's Hospital
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Bangkok, Thailand
- Siriraj Hospital Mahidol University
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Olomouc, Tjekkiet, 779 00
- Fakultni nemocnice Olomouc
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Prague, Tjekkiet, 150 06
- Fakultni nemocnice v Motole
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Prague, Tjekkiet, 128 20
- Ustav hematologie a krevni transfuze
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Ankara, Tyrkiet (Türkiye)
- Hacettepe University Medical Faculty
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Berlin, Tyskland, 13353
- Charite - Universitatsmedizin Berlin
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Bielefeld, Tyskland, 33617
- Evangelisches Krankenhaus Bielefeld gGmbH
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Heidelberg, Tyskland, 69120
- Universitatsklinikum Heidelberg
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Munich, Tyskland, 81377
- Kinder- und Jugendarztpraxis
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Würzburg, Tyskland, 97080
- Universitatsklinikum Wurzburg
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Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
- Barn
- Voksen
- Ældre voksen
Tager imod sunde frivillige
Køn, der er berettiget til at studere
Prøveudtagningsmetode
Studiebefolkning
Patients will be recruited or referred by physicians who treat hemolytic anemias at approximately 60 sites in approximately 20 countries.
Beskrivelse
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.
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
- Observationsmodeller: COHORT
- Tidsperspektiver: PROSPECTIVE
Kohorter og interventioner
Gruppe / kohorte |
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PKD Diagnosed
Participants diagnosed with PK deficiency by the presence of 2 or more PKLR gene mutations as well as clinical features. |
Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
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Clinical Course of PK Deficiency
Tidsramme: 9 years
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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
|
Sekundære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
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Severity of Disease
Tidsramme: 9 years
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To understand the prevalence, incidence, and severity of complications associated with PK deficiency. |
9 years
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Disease Impact on Pregnancy
Tidsramme: 9 years
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To evaluate pregnancy outcomes. |
9 years
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Clinical Management Assistance
Tidsramme: 9 years
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To provide a source of longitudinal data to assist physicians with clinical management of individual patients. |
9 years
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Global Repository
Tidsramme: 9 years
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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
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Andre resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
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Genetic
Tidsramme: 9 years
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To examine a possible correlation between PKLR genotype and PK deficiency clinical phenotype. |
9 years
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Samarbejdspartnere og efterforskere
Sponsor
Efterforskere
- Studiestol: Eva Gallagher, VP, Medical Affairs, Agios Pharmaceuticals, Inc.
Publikationer og nyttige links
Hjælpsomme links
Datoer for undersøgelser
Studer store datoer
Studiestart (Faktiske)
Primær færdiggørelse (Anslået)
Studieafslutning (Anslået)
Datoer for studieregistrering
Først indsendt
Først indsendt, der opfyldte QC-kriterier
Først opslået (Faktiske)
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Faktiske)
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
Sidst verificeret
Mere information
Begreber relateret til denne undersøgelse
Yderligere relevante MeSH-vilkår
Andre undersøgelses-id-numre
- AG348-C-008
Plan for individuelle deltagerdata (IPD)
Planlægger du at dele individuelle deltagerdata (IPD)?
Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter
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