Long‐term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS‐LSD cohort study

Anderson, Lindsey; Henley, William; Wyatt, Katrina; Nikolaou, Vasilis; Hughes, D.A.; Waldek, S.; Logan, Stuart

doi:10.1007/s10545-014-9680-0

Cited by 7 publications

(8 citation statements)

References 24 publications

(37 reference statements)

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“…These utilities can be used in future economic evaluations to calculate QALYs of competing GD1 therapies. We also have estimated a function that predicts transition probabilities among these health states conditional on time on treatment, disease severity when starting treatment, and splenectomy status that is consistent with other studies of the course of the GD1, onset of action, and duration of treatment effect [ 19 , 20 , 29 – 32 ]. This function can be used to derive the transition probability matrices needed to project short- and long-term outcomes of patients after starting treatment.…”

Section: Discussionsupporting

confidence: 59%

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1

Ganz

Stern

Ward

et al. 2017

Orphanet J Rare Dis

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BackgroundThe Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities between those states, and preferences for those states (utilities) based on the DS3 to predict long-term outcomes of patients starting treatment. We defined nine mutually exclusive (alive) health states based on three DS3 categories: mild (0 ≤ DS3 ≤ 3.5) without symptoms of bone disease; mild with bone pain, mild with severe skeletal complications (SSC) defined as lytic lesions, avascular necrosis, or fracture; moderate (3.5 < DS3 ≤ 6.5) without SSC; moderate with SSC; marked (6.5 < DS3 ≤ 9.5) without SSC; marked with SSC; severe (9.5 < DS3 ≤ 19) without SSC; and severe with SSC. Health-state transition probabilities and utilities were estimated from a longitudinal sample of patients with GD1 who started enzyme replacement therapy (the DS3 Score Study). Age dependent GD1-specific mortality was derived from published data. We used a Markov state-transition model to illustrate how to estimate time spent in each health state.ResultsThe average predicted utilities for each health state ranged from 0.76 for mild disease with no clinical symptoms of bone disease to 0.52 with severe disease with SSC. Transition probabilities depended on disease severity (DS3 score) at treatment initiation and whether patients had undergone a total splenectomy or had an intact spleen/partial splenectomy prior to starting treatment. Patients who started treatment with intact or residual spleens spent more time in better health states than those who started treatment with total splenectomy.ConclusionsThis new framework, which is based on the DS3, can be used to project the long-term outcomes of GD1 patients starting treatment. The framework could also be used to compare the long-term outcomes of different GD1 treatment options.Trial registration NCT01136304. Registered: May 31, 2010 (retrospectively registered).Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0592-6) contains supplementary material, which is available to authorized users.

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Section: Discussionsupporting

confidence: 59%

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1

Ganz

Stern

Ward

et al. 2017

Orphanet J Rare Dis

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“…In the present cases, the splenectomy was performed at 5 years old, and recurrent osteomyelitis was observed throughout childhood. Since the inception of ERT, a splenectomy has been contraindicated in cases of GD [1, 3, 4], because it increases the risk for co-morbidities via systemic infection, malignancy, cholelithiasis, pulmonary hypertension, or hepatopulmonary syndrome [2, 5–8]. In addition, it can accelerate neurological debilitation and aggravate bone disease, such as avascular necrosis of the femur neck [6, 8].…”

Section: Discussionmentioning

confidence: 99%

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

et al. 2017

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BackgroundGastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT).Case presentationHere, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both. Improvement in the gastroduodenal infiltration and reduced chitotriosidase levels were observed in one who switched to eliglustat tartrate for 1 year, whereas the other one who maintained ERT showed no improvement of chitotriosidase level and persistent duodenal lesions.ConclusionThis shows that eliglustat might be an effective treatment for Gaucher disease patients having lesions resistant to ERT.

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“…Se considera que la TRE es el estándar de oro en el tratamiento de la EG1 y de las manifestaciones no neurológicas de la EG3: mejora el nivel de hemoglobina y el recuento plaquetario, y disminuye el dolor óseo y el tamaño hepático y esplénico (34,35). Esto lo demostraron Anderson y colaboradores (34) en el estudio de la cohorte NCS-LSD, en el que 24 pacientes recibieron TRE.…”

Section: Terapia De Reemplazo Enzimático (Tre)unclassified

“…La EG tipo 3 es de presentación más tardía y progresión más lenta (42). La mayoría de los pacientes llegan a la adultez, en promedio hasta la tercera década de la vida (34,52).…”

Section: Pronósticounclassified

Manifestaciones oculares de la enfermedad de Gaucher: presentación de un caso y revisión del tema

Mejía-Turizo

Rojas-Múnera

Orrego-Betancur

et al. 2017

iatreia

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Long‐term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS‐LSD cohort study

Abstract: These data provide further evidence of the long-term effectiveness of ERT in adults with GD.

Cited by 7 publications

References 24 publications

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

Manifestaciones oculares de la enfermedad de Gaucher: presentación de un caso y revisión del tema

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