Registro Longitudinal Global de Deficiência de Piruvato Quinase (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.
Visão geral do estudo
Status
Condições
Descrição detalhada
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.
Tipo de estudo
Inscrição (Real)
Contactos e Locais
Locais de estudo
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Berlin, Alemanha, 13353
- Charite - Universitatsmedizin Berlin
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Bielefeld, Alemanha, 33617
- Evangelisches Krankenhaus Bielefeld gGmbH
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Heidelberg, Alemanha, 69120
- Universitatsklinikum Heidelberg
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Munich, Alemanha, 81377
- Kinder- und Jugendarztpraxis
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Würzburg, Alemanha, 97080
- Universitatsklinikum Wurzburg
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Ontario
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Hamilton, Ontario, Canadá, L8N 4A6
- Saint Josephs Healthcare System
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Toronto, Ontario, Canadá, M5G 2C4
- Toronto General Hospital
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Quebec
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Montreal, Quebec, Canadá, H3T 1C5
- St. Justine Hospital
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Seoul, Coréia do Sul
- The Catholic University of Korea, Seoul St. Mary's Hospital
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Herlev, Dinamarca, 2730
- Copenhagen University Hospital
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Barcelona, Espanha, 08035
- Hospital Universitario Vall d'Hebron - PPDS
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Barcelona, Espanha, 8041
- Hospital de La Santa Creu i Sant Pau
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Madrid, Espanha, 28046
- Hospital Universitario La Paz
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Madrid, Espanha, 28009
- Hospital Infantil Universitario Nino Jesus
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Tortosa, Espanha, 43500
- Hospital de Tortosa Verge de la Cinta
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Barcelona
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Badalona, Barcelona, Espanha, 08916
- Hospital Universitario Germans Trias i Pujol
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Esplugues de Llobregat, Barcelona, Espanha, 08950
- Hospital Sant Joan de Deu - PIN
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Arizona
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Phoenix, Arizona, Estados Unidos, 85016
- Phoenix Childrens Hospital
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Arkansas
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Little Rock, Arkansas, Estados Unidos, 72205
- University of Arkansas for Medical Sciences
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Little Rock, Arkansas, Estados Unidos, 72202
- Arkansas Children's Hospital
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California
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Orange, California, Estados Unidos, 92868
- Children's Hospital of Orange County
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Palo Alto, California, Estados Unidos, 94304
- Stanford University Medical Center
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Georgia
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Atlanta, Georgia, Estados Unidos, 30342
- Children's Healthcare of Atlanta
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Massachusetts
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Boston, Massachusetts, Estados Unidos, 02114
- Massachusetts General Hospital
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Boston, Massachusetts, Estados Unidos, 02115
- Boston Children's Hospital
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Worcester, Massachusetts, Estados Unidos, 01655-0002
- UMass Memorial Medical Center
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Michigan
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Detroit, Michigan, Estados Unidos, 48201
- Children's Hospital of Michigan
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North Carolina
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Durham, North Carolina, Estados Unidos, 27710
- Duke University Medical Center
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Pennsylvania
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Philadelphia, Pennsylvania, Estados Unidos, 19104
- Children's Hospital of Philadelphia
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Tennessee
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Memphis, Tennessee, Estados Unidos, 38105
- St Jude Children's Research Hospital
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Utah
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Salt Lake City, Utah, Estados Unidos, 84113
- Primary Children's Hospital
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Vermont
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Burlington, Vermont, Estados Unidos, 05401
- University of Vermont Medical Center
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Paris, França, 75743
- Hopital Necker
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Utrecht, Holanda, 3508 GA
- Universitair Medisch Centrum Utrecht
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Dublin, Irlanda, D08 NHY1
- St James's Hospital
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Milan, Itália, 20122
- Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
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Roma, Itália, 144
- Ospedale S Eugenio
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Abruzzo
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Pescara, Abruzzo, Itália, 65125
- Presidio Ospedaliero di Pescara
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Campania
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Naples, Campania, Itália
- AOU dell'Universita degli Studi della Campania Luigi Vanvitelli
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Liguria
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Genoa, Liguria, Itália, 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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London, Reino Unido, SE5 9RS
- Kings College Hospital
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Newcastle upon Tyne, Reino Unido, 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, Reino Unido, W12 0HS
- Hammersmith Hospital
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Lausanne, Suíça, CH 1011
- Centre Hospitalier Universitaire Vaudois
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Bangkok, Tailândia
- Siriraj Hospital Mahidol University
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Olomouc, Tcheca, 779 00
- Fakultni nemocnice Olomouc
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Prague, Tcheca, 150 06
- Fakultni nemocnice v Motole
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Prague, Tcheca, 128 20
- Ustav hematologie a krevni transfuze
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Ankara, Turquia (Türkiye)
- Hacettepe University Medical Faculty
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Critérios de participação
Critérios de elegibilidade
Idades elegíveis para estudo
- Filho
- Adulto
- Adulto mais velho
Aceita Voluntários Saudáveis
Gêneros Elegíveis para o Estudo
Método de amostragem
População do estudo
Patients will be recruited or referred by physicians who treat hemolytic anemias at approximately 60 sites in approximately 20 countries.
Descrição
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.
Plano de estudo
Como o estudo é projetado?
Detalhes do projeto
- Modelos de observação: COHORT
- Perspectivas de Tempo: PROSPECTIVE
Coortes e Intervenções
Grupo / Coorte |
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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. |
O que o estudo está medindo?
Medidas de resultados primários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
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Clinical Course of PK Deficiency
Prazo: 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
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Medidas de resultados secundários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
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Severity of Disease
Prazo: 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
Prazo: 9 years
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To evaluate pregnancy outcomes. |
9 years
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Clinical Management Assistance
Prazo: 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
Prazo: 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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Outras medidas de resultado
Medida de resultado |
Descrição da medida |
Prazo |
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Genetic
Prazo: 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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Colaboradores e Investigadores
Patrocinador
Investigadores
- Cadeira de estudo: Eva Gallagher, VP, Medical Affairs, Agios Pharmaceuticals, Inc.
Publicações e links úteis
Links úteis
Datas de registro do estudo
Datas Principais do Estudo
Início do estudo (Real)
Conclusão Primária (Estimado)
Conclusão do estudo (Estimado)
Datas de inscrição no estudo
Enviado pela primeira vez
Enviado pela primeira vez que atendeu aos critérios de CQ
Primeira postagem (Real)
Atualizações de registro de estudo
Última Atualização Postada (Real)
Última atualização enviada que atendeu aos critérios de controle de qualidade
Última verificação
Mais Informações
Termos relacionados a este estudo
Termos MeSH relevantes adicionais
Outros números de identificação do estudo
- AG348-C-008
Plano para dados de participantes individuais (IPD)
Planeja compartilhar dados de participantes individuais (IPD)?
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