Globální podélný registr nedostatku pyruvátkinázy (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.
Přehled studie
Postavení
Podmínky
Detailní popis
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.
Typ studie
Zápis (Aktuální)
Kontakty a umístění
Studijní místa
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Herlev, Dánsko, 2730
- Copenhagen University Hospital
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Paris, Francie, 75743
- Hopital Necker
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Utrecht, Holandsko, 3508 GA
- Universitair Medisch Centrum Utrecht
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Dublin, Irsko, D08 NHY1
- St James's Hospital
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Milan, Itálie, 20122
- Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
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Roma, Itálie, 144
- Ospedale S Eugenio
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Abruzzo
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Pescara, Abruzzo, Itálie, 65125
- Presidio Ospedaliero di Pescara
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Campania
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Naples, Campania, Itálie
- AOU dell'Universita degli Studi della Campania Luigi Vanvitelli
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Liguria
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Genoa, Liguria, Itálie, 16128
- E O Ospedali Galliera
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Seoul, Jižní Korea
- The Catholic University of Korea, Seoul St. Mary's Hospital
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Ontario
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Hamilton, Ontario, Kanada, L8N 4A6
- Saint Josephs Healthcare System
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Toronto, Ontario, Kanada, M5G 2C4
- Toronto General Hospital
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Quebec
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Montreal, Quebec, Kanada, H3T 1C5
- St. Justine Hospital
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Berlin, Německo, 13353
- Charite - Universitatsmedizin Berlin
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Bielefeld, Německo, 33617
- Evangelisches Krankenhaus Bielefeld gGmbH
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Heidelberg, Německo, 69120
- Universitatsklinikum Heidelberg
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Munich, Německo, 81377
- Kinder- und Jugendarztpraxis
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Würzburg, Německo, 97080
- Universitatsklinikum Wurzburg
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Coimbra, Portugalsko, 3041-853
- Centro Hospitalar E Universitario de Coimbra EPE
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Lisbon, Portugalsko, 1169-045
- Centro Hospitalar Lisboa Central- Hospital Dona Estefania
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Porto, Portugalsko, 4200-072
- Centro Hospitalar de Vila Nova de Gaia / Espinho E.P.E
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London, Spojené království, SE5 9RS
- Kings College Hospital
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Newcastle upon Tyne, Spojené království, 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, Spojené království, W12 0HS
- Hammersmith Hospital
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Arizona
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Phoenix, Arizona, Spojené státy, 85016
- Phoenix Childrens Hospital
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Arkansas
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Little Rock, Arkansas, Spojené státy, 72205
- University of Arkansas for Medical Sciences
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Little Rock, Arkansas, Spojené státy, 72202
- Arkansas Children's Hospital
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California
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Orange, California, Spojené státy, 92868
- Children's Hospital of Orange County
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Palo Alto, California, Spojené státy, 94304
- Stanford University Medical Center
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Georgia
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Atlanta, Georgia, Spojené státy, 30342
- Children's Healthcare of Atlanta
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Massachusetts
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Boston, Massachusetts, Spojené státy, 02114
- Massachusetts General Hospital
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Boston, Massachusetts, Spojené státy, 02115
- Boston Children's Hospital
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Worcester, Massachusetts, Spojené státy, 01655-0002
- UMass Memorial Medical Center
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Michigan
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Detroit, Michigan, Spojené státy, 48201
- Children's Hospital of Michigan
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North Carolina
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Durham, North Carolina, Spojené státy, 27710
- Duke University Medical Center
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Pennsylvania
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Philadelphia, Pennsylvania, Spojené státy, 19104
- Children's Hospital of Philadelphia
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Tennessee
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Memphis, Tennessee, Spojené státy, 38105
- St Jude Children's Research Hospital
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Utah
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Salt Lake City, Utah, Spojené státy, 84113
- Primary Children's Hospital
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Vermont
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Burlington, Vermont, Spojené státy, 05401
- University of Vermont Medical Center
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Bangkok, Thajsko
- Siriraj Hospital Mahidol University
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Ankara, Turecko (Türkiye)
- Hacettepe University Medical Faculty
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Olomouc, Česko, 779 00
- Fakultni nemocnice Olomouc
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Prague, Česko, 150 06
- Fakultni nemocnice v Motole
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Prague, Česko, 128 20
- Ustav hematologie a krevni transfuze
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Barcelona, Španělsko, 08035
- Hospital Universitario Vall d'Hebron - PPDS
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Barcelona, Španělsko, 8041
- Hospital de La Santa Creu i Sant Pau
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Madrid, Španělsko, 28046
- Hospital Universitario La Paz
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Madrid, Španělsko, 28009
- Hospital Infantil Universitario Nino Jesus
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Tortosa, Španělsko, 43500
- Hospital de Tortosa Verge de la Cinta
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Barcelona
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Badalona, Barcelona, Španělsko, 08916
- Hospital Universitario Germans Trias i Pujol
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Esplugues de Llobregat, Barcelona, Španělsko, 08950
- Hospital Sant Joan de Deu - PIN
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Lausanne, Švýcarsko, CH 1011
- Centre Hospitalier Universitaire Vaudois
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Kritéria účasti
Kritéria způsobilosti
Věk způsobilý ke studiu
- Dítě
- Dospělý
- Starší dospělý
Přijímá zdravé dobrovolníky
Pohlaví způsobilá ke studiu
Metoda odběru vzorků
Studijní populace
Patients will be recruited or referred by physicians who treat hemolytic anemias at approximately 60 sites in approximately 20 countries.
Popis
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.
Studijní plán
Jak je studie koncipována?
Detaily designu
- Observační modely: COHORT
- Časové perspektivy: PROSPECTIVE
Kohorty a intervence
Skupina / kohorta |
|---|
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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. |
Co je měření studie?
Primární výstupní opatření
Měření výsledku |
Popis opatření |
Časové okno |
|---|---|---|
|
Clinical Course of PK Deficiency
Časové okno: 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
|
Sekundární výstupní opatření
Měření výsledku |
Popis opatření |
Časové okno |
|---|---|---|
|
Severity of Disease
Časové okno: 9 years
|
To understand the prevalence, incidence, and severity of complications associated with PK deficiency. |
9 years
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Disease Impact on Pregnancy
Časové okno: 9 years
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To evaluate pregnancy outcomes. |
9 years
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Clinical Management Assistance
Časové okno: 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
Časové okno: 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
|
Další výstupní opatření
Měření výsledku |
Popis opatření |
Časové okno |
|---|---|---|
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Genetic
Časové okno: 9 years
|
To examine a possible correlation between PKLR genotype and PK deficiency clinical phenotype. |
9 years
|
Spolupracovníci a vyšetřovatelé
Sponzor
Vyšetřovatelé
- Studijní židle: Eva Gallagher, VP, Medical Affairs, Agios Pharmaceuticals, Inc.
Publikace a užitečné odkazy
Užitečné odkazy
Termíny studijních záznamů
Hlavní termíny studia
Začátek studia (Aktuální)
Primární dokončení (Odhadovaný)
Dokončení studie (Odhadovaný)
Termíny zápisu do studia
První předloženo
První předloženo, které splnilo kritéria kontroly kvality
První zveřejněno (Aktuální)
Aktualizace studijních záznamů
Poslední zveřejněná aktualizace (Aktuální)
Odeslaná poslední aktualizace, která splnila kritéria kontroly kvality
Naposledy ověřeno
Více informací
Termíny související s touto studií
Další relevantní podmínky MeSH
Další identifikační čísla studie
- AG348-C-008
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Plánujete sdílet data jednotlivých účastníků (IPD)?
Informace o lécích a zařízeních, studijní dokumenty
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