Registro longitudinal global de deficiencia de piruvato quinasa (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.
Descripción general del estudio
Estado
Condiciones
Descripción detallada
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 estudio
Inscripción (Actual)
Contactos y Ubicaciones
Ubicaciones de estudio
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Berlin, Alemania, 13353
- Charite - Universitatsmedizin Berlin
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Bielefeld, Alemania, 33617
- Evangelisches Krankenhaus Bielefeld gGmbH
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Heidelberg, Alemania, 69120
- Universitatsklinikum Heidelberg
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Munich, Alemania, 81377
- Kinder- und Jugendarztpraxis
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Würzburg, Alemania, 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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Olomouc, Chequia, 779 00
- Fakultni nemocnice Olomouc
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Prague, Chequia, 150 06
- Fakultni nemocnice v Motole
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Prague, Chequia, 128 20
- Ustav hematologie a krevni transfuze
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Seoul, Corea del Sur
- 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, España, 08035
- Hospital Universitario Vall d'Hebron - PPDS
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Barcelona, España, 8041
- Hospital de La Santa Creu i Sant Pau
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Madrid, España, 28046
- Hospital Universitario La Paz
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Madrid, España, 28009
- Hospital Infantil Universitario Nino Jesus
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Tortosa, España, 43500
- Hospital de Tortosa Verge de la Cinta
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Barcelona
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Badalona, Barcelona, España, 08916
- Hospital Universitario Germans Trias i Pujol
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Esplugues de Llobregat, Barcelona, España, 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, Francia, 75743
- Hopital Necker
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Dublin, Irlanda, D08 NHY1
- St James's Hospital
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Milan, Italia, 20122
- Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
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Roma, Italia, 144
- Ospedale S Eugenio
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Abruzzo
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Pescara, Abruzzo, Italia, 65125
- Presidio Ospedaliero di Pescara
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Campania
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Naples, Campania, Italia
- AOU dell'Universita degli Studi della Campania Luigi Vanvitelli
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Liguria
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Genoa, Liguria, Italia, 16128
- E O Ospedali Galliera
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Utrecht, Países Bajos, 3508 GA
- Universitair Medisch Centrum Utrecht
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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, Suiza, CH 1011
- Centre Hospitalier Universitaire Vaudois
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Bangkok, Tailandia
- Siriraj Hospital Mahidol University
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Ankara, Turquía (Türkiye)
- Hacettepe University Medical Faculty
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
- Niño
- Adulto
- Adulto Mayor
Acepta Voluntarios Saludables
Géneros elegibles para el estudio
Método de muestreo
Población de estudio
Patients will be recruited or referred by physicians who treat hemolytic anemias at approximately 60 sites in approximately 20 countries.
Descripción
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.
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
- Modelos observacionales: COHORT
- Perspectivas temporales: PROSPECTIVE
Cohortes e Intervenciones
Grupo / Cohorte |
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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. |
¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Clinical Course of PK Deficiency
Periodo de tiempo: 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 resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Severity of Disease
Periodo de tiempo: 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
Periodo de tiempo: 9 years
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To evaluate pregnancy outcomes. |
9 years
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Clinical Management Assistance
Periodo de tiempo: 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
Periodo de tiempo: 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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Otras medidas de resultado
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
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Genetic
Periodo de tiempo: 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
- Silla de estudio: Eva Gallagher, VP, Medical Affairs, Agios Pharmaceuticals, Inc.
Publicaciones y enlaces útiles
Enlaces Útiles
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Actual)
Finalización primaria (Estimado)
Finalización del estudio (Estimado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Términos MeSH relevantes adicionales
- Enfermedades Genéticas Congénitas
- Enfermedades hematológicas
- Anemia Hemolítica Congénita
- Anemia Hemolítica
- Anemia
- Enfermedades y anomalías congénitas, hereditarias y neonatales
- Enfermedades hemic y linfáticas
- Anemia Hemolítica Congénita No Esferocítica
- Deficiencia de piruvato quinasa de glóbulos rojos
Otros números de identificación del estudio
- AG348-C-008
Plan de datos de participantes individuales (IPD)
¿Planea compartir datos de participantes individuales (IPD)?
Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
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