Swipe om te navigeren naar een ander artikel
The online version of this article (https://doi.org/10.1007/s11136-018-2025-y) contains supplementary material, which is available to authorized users.
Pyruvate kinase deficiency (PKD) is a rare disease and understanding of its epidemiology and associated burden remains limited. With no current curative therapy, clinical manifestations can be life threatening, clinically managed by maintaining adequate hemoglobin levels through transfusion and subsequent support, but with frequent complications. Treatment goals are to maintain/improve the patient’s quality of life. With new therapies, reliable, valid, and relevant patient-reported outcome (PRO) tools are required for use in clinical trials.
Systematic literature search identified no current PRO tools for capturing/measuring the impact of PKD and treatments in clinical trials. Therefore, the search strategy was revised to consider conditions analogous to PKD in terms of symptoms and impacts that might serve as parallels to the experience in PKD; this included sickle cell anemia, thalassemia, and hemolytic anemia. Psychometric properties, strengths, and weakness of selected appropriate PRO instruments were compared, and recommendations made for choice of PRO tools.
In adult populations, EORTC QLQ C30 and SF-36v2 are recommended, the former being a basic minimum, covering generic HRQoL, and core symptoms such as fatigue. In pediatric populations, PedsQL Generic Core Scale to measure HRQoL and PedsQL MFS scale to measure fatigue are recommended.
Some symptoms/life impacts may be unique to PKD and not observable in analogous conditions. A ‘Physico-Psychosocial Model’ derived from the ‘Medical Model’ is proposed to form the basis for a hypothesized conceptual framework to address the development of PKD-specific PRO instruments.
Binding of one ligand enhances the attraction between substrate molecules and other binding sites
Temporary cessation of red cell production
Autosomal recessive trait
Ways that a trait, disorder, or disease can be passed down through families whereby two copies of an abnormal gene must be present in order for the disease or trait to develop
A genetic blood disorder that reduces the production of hemoglobin
A form of complementary therapy involving circulating a chelating solution in the bloodstream to bind toxins
Chronic non-spherocytic hemolytic anemia
A group of rare, genetically transmitted blood disorders characterized by the premature destruction of red blood cells
Reduction in the level of red blood cells
A medication that binds iron used to treat iron overload
Hematopoiesis (differentiation processes that lead to the formation of all blood cells from hematopoietic stem cells) occurring in organs outside of the bone marrow
Hematopoietic stem cell transplantation
Is the transplantation of multipotent hematopoietic stem cells
A form of anemia due to hemolysis, the abnormal breakdown of red blood cells
A group of cancers in which immature blood cells in the bone marrow do not mature and therefore do not become healthy blood cells
Hemolytic disease of the newborn
A yellowish discoloration of the white part of the eyes and skin in a newborn baby due to high bilirubin levels
Paroxysmal nocturnal hemoglobinuria
A rare blood condition where blood cells are prone to be attacked by part of the body’s immune system
Functional changes associated with or resulting from disease or injury
Body’s response to infection causing injury to its own tissues and organs following removal of the spleen
Increased blood pressure within the arteries of the lungs
The enzyme that catalyzes the final step of glycolysis
Structural equation modeling
A diverse set of mathematical models, computer algorithms, and statistical methods that fit networks of constructs to data and includes confirmatory factor analysis, path analysis, and partial least squares
Exhibiting an overactive spleen, removing too many blood cells, including healthy ones
An extension of multiple regression used to provide estimates of the magnitude and significance of hypothesized causal connections between sets of variables and includes multiple regression analysis, factor analysis, and discriminant analysis
A common painful complication of sickle cell anemia where circulation of blood vessels is obstructed by sickled red blood cells, causing ischemic injuries
Beutler, E., & Gelbart, T. (2000). Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood, 95(11), 3585–3588. PubMed
Zanella, A., Bianchi, P., & Fermo, E. (2006). Red cell enzyme deficiencies: Molecular and clinical aspects. Haematologica Reports, 2(10), 96–102.
Grace, R., Barcellini, W., Eber, S., et al. (2015). Categorization of clinical severity in pyruvate kinase deficiency (PKD) in an international, observational cohort. In Paper presented at presented at the 20th congress of the European Hematology Association; 11–14 June 2015, Vienna.
Gregg, X., & Prchal, J. (2016). Red blood cell enzymopathies. In R. B. E. Hoffman (Ed.), Hematology: Basic principles and practice (7th ed.). London: Elsevier.
van Wijk, R. (2015). Erythrocyte enzyme disorders. In K. Kaushansky, M. Lichtman, J. Prchal, et al. (Eds.), Williams hematology (9th ed., p. 689). New York: McGraw-Hill.
Zanella, A., & Bianchi, P. (2000). Red cell pyruvate kinase deficiency: From genetics to clinical manifestations. Best Practice & Research: Clinical Haematology, 13(1), 57–81.
Morton, D., Knoll, C., Rothman, J., et al. (2015). The clinical features and treatment of iron overload in pyruvate kinase deficiency (PKD): Data from the PKD Natural History Study (NHS). In Paper presented at the 20th congress of the European Hematology Association; 11–14 June 2015, Vienna.
Meza, N., Alonso, M., Navarro, S., et al. (2007). Development of efficient gene therapy for the treatment of erythrocyte pyruvate kinase deficiency. Blood, 110(11), 2584.
Cavazzana-Calvo, M., Payen, E., Negre, O., Wang, G., Hehir, K., & Fusil, F. (2011). Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature, 467, 318–322. CrossRef
Grace, R., Cohen, J., Egan, S., et al. (2018). The burden of disease in pyruvate kinase deficiency: Patients’ perception of the impact on health-related quality of life. European Journal of Haematology.
Worsham, C., Martin, S., Nouraie, S., Cohen, R., & Klings, E. (2017). Clinical and laboratory findings associated with sleep disordered breathing in sickle cell disease. Annals of Hematology, 92(12), E649–E651.
Raghunathan, V., Whitesell, P., & Lim, S. (2018). Sleep-disordered breathing in patients with sickle cell disease. Annals of Hematology, 97(5), 755–762. PubMed
Hilgard, P., & Gerken, G. (2005). Liver cirrhosis as a consequence of iron overload caused by hereditary nonspherocytic hemolytic anemia. World Journal of Gastroenterology, 28(11), 1241–1244. CrossRef
Martí-Carvajal, A., Solà, I., & Agreda-Pérez, L. (2016). Treatment for avascular necrosis of bone in people with sickle cell disease. The Cochrane Database of Systematic Reviews, 8, CD004344.
Grace, R. (2015). Pyruvate Kinase Deficiency Natural History Study (PKD NHS) (NCT02053480). Retrieved January 8, 2018, from https://clinicaltrials.gov/ct2/show/record/NCT02053480.
Lasch, K., Evans, C., & Schatell, D. (2009). A qualitative analysis of patient-reported symptoms of anemia. Nephrology Nursing Journal, 36(6), 621–624. PubMed
McClish, D., Penberthy, L., Bovbjerg, V., et al. (2005). Health related quality of life in sickle cell patients: The PiSCES project. Health and Quality of Life Outcomes, 29(3), 50–56. CrossRef
Dampier, C., Lieff, S., LeBeau, P., et al. (2010). Health-related quality of life in children with sickle cell disease: A report from the Comprehensive Sickle Cell Centers Clinical Trial Consortium. Pediatric Blood & Cancer, 55(3), 485–494. CrossRef
USFDA. (2009). US food and drug administration (FDA) guidance for industry -patient-reported outcome measures: Use in medical product development to support labeling claims. Maryland: USFDA.
McDowell, I. (2006). Measuring health: A guide to rating scales and questionnaires (3rd ed.). Oxford: Oxford University Press. CrossRef
Hullmann, S., Ryan, J., Ramsey, R., Chaney, J., Mullin, & sL (2011). Measures of general pediatric quality of life: Child Health Questionnaire (CHQ), DISABKIDS Chronic Generic Measure (DCGM), KINDL-R, Pediatric Quality of My Life Questionnaire (QoML). Arthritis Care & Research (Hoboken), 63(Supp11), S420–S430. CrossRef
Panepinto, J., O’Mahar, K., DeBaun, M., Rennie, K., & Scott, J. (2004). Validity of the child health questionnaire for use in children with sickle cell disease. Journal of Pediatric Hematology, 26(9), 574–578. CrossRef
Panepinto, J., Pajewski, N., Foerster, L., & Hoffmann, R. (2008). The performance of the PedsQL generic core scales in children with sickle cell disease. Journal of Pediatric Hematology, 30(9), 666–673. CrossRef
Panepinto, J., Torres, S., Bendo, C., et al. (2014). PedsQLTM Multidimensional Fatigue Scale in sickle cell disease: Feasibility, reliability, and validity. Pediatric Blood & Cancer, 61(1), 171–177. CrossRef
Lai, J., Cella, D., Kupst, M., et al. (2007). Measuring fatigue for children with cancer: Development and validation of the pediatric Functional Assessment of Chronic Illness Therapy-Fatigue (pedsFACIT-F). Journal of Pediatric Hematology, 29(7), 471–479. CrossRef
Golics, C., Basra, M., Finlay, A., & Salek, S. (2013). The development and validation of the Family Reported Outcome Measure (FROM-16)(©) to assess the impact of disease on the partner or family member. Quality of Life Research, 23(1), 317–326. CrossRef
Hand, C. (2016). Measuring health-related quality of life in adults with chronic conditions in primary care settings. Critical review of concepts and 3 tools. Canadian Family Physician, 62(7), e375–e383. PubMedCentral
- Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency
M. S. Salek
J. R. Johns
E. N. Oliva
- Springer International Publishing