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

Anderson, Lindsey; Henley, William; Wyatt, Katrina; Nikolaou, Vasilis; Waldek, Stephen; Hughes, D.A.; Pastores, Gregory M.; Logan, Stuart

doi:10.1007/s10545-014-9693-8

Cited by 7 publications

(2 citation statements)

References 27 publications

(39 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In respect to bone crisis, data from the IGGC registry report only 17% of patients with bone crisis [15], from the UK registry study 26% GD1 patients reported bone pain [17], but in our cohort, bone alterations were present in 37.9% (33) of cases, with a clear predominance (50%, 21 cases) in the cohort diagnosed before 1994 than the patients diagnosed after ERT became available. This is a clear feature of a more severe presentation in our country.…”

Section: Discussionmentioning

confidence: 67%

“…The large studies are supported by statistics extrapolating modelling-based studies from data from the International Collaborative Gaucher Group Registry (ICGGR) [15, 16] and several works from national cooperative groups that have summarize information from different cohorts [17–21]. However, the disease manifestations are impacted by the ethnicity/population characteristics and it is important to analyze what we have achieved in every-day clinical practice with current treatment and how the behavior of the disease has changed in the pediatric population, especially in children treated from the first years of life.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

Andrade‐Campos

Alfonso

Irún

et al. 2017

Orphanet J Rare Dis

View full text Add to dashboard Cite

BackgroundThe enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many complications in pediatric patients. In Spain ERT has been available since 1993 and 386 patients have been included in the Spanish Registry of Gaucher Disease (SpRGD). The aim of this study is to analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients.AimTo analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients.MethodsA review of data in SpRGD from patients’ diagnosed before 18 years old was performed. The cohort was split according the year of diagnosis (≤1994, cohort A; ≥1995, cohort B).ResultsA total of 98 pediatric patients were included, GD1: 80, GD3: 18; mean age: 7.2 (0.17–16.5) years, 58 (59.2%) males and 40 (40.8%) females. Forty-five were diagnosed ≤ 1994 and 53 ≥ 1995. Genotype: N370S/N370S: 2 (2.0%), N370S/L444P: 27 (27.5%), N370S/other: 47 (48%), L444P/L444P: 7 (7.1%), L444P/D409H: 2 (2.0%), L444P/other: 3 (6.2%), other/other: 10 (10.2%). The mean age at diagnosis was earlier in patients diagnosed after 1995 (p < 0.001) and different between the subtypes, GD1: 8.2 (0.2–16.5) years and GD3: 2.8 (0.17–10.2) years (p < 0.001). There were more severe patients in the group diagnosed before 1994 (p = 0.045) carrying L444P (2), D409H (2), G377S (1), G195W (1) or the recombinant mutation. The patients’ diagnosed ≤1994 showed worse cytopenias, higher chance of bone vascular complications at diagnosis and previous spleen removal. The patients started ERT at a median time after diagnosis of 5.2 years [cohort A] and 1.6 years [cohort B] (p < 0.001).ConclusionsThe early diagnosis of Gaucher disease in the era of ERT availability has permitted to reduce the incidence of severe and irreversible initial complication in pediatric patients, and this has permitted better development of these patients. This is the largest pediatric cohort from a national registry.

show abstract

Section: Discussionmentioning

confidence: 67%