Pilot study of newborn screening for six lysosomal diseases in Brazil

Kubaski, Francyne; Sousa, Inês; Amorim, Tatiana; Pereira, Danilo Florentino; Silva, Camilo; Chaves, Vitor; Brusius-Facchin, Ana Carolina; Netto, Alice Brinckmann Oliveira; Soares, Juliano; Vairo, Filippo Pinto e; Poletto, Édina; Trometer, Joe; Souza, Alexandre Lima de; Ranieri, Enzo; Polo, Giulia; Hong, Xinying; Herbst, Zackary M.; Burlina, Alberto; Gelb, Michael H.; Giugliani, Roberto

doi:10.1016/j.ymgme.2023.107654

Cited by 4 publications

(5 citation statements)

References 64 publications

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“…Despite this progress, achieving comprehensive HSCT coverage for all IEM patients in need, within the public health system, remains a goal to be pursued. 37,38…”

Section: Discussionmentioning

confidence: 99%

Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism - a retrospective analysis on behalf of the Pediatric Disease Working Party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy

Rodrigues,

Fernandes,

Gregianin

et al. 2024

Preprint

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Hematopoietic stem cell transplantation (HSCT) is an established treatment for selected patients with inborn errors of metabolism. In this first report from the PDWP-SBTMO, we included 105 patients transplanted between 1988 and 2021 across six Brazilian HSCT centers. The most prevalent diseases were X-linked adrenoleukodystrophy(n=61) and mucopolysaccharidosis (type I n=20; type II n=10), with a median age at HSCT of 8.7years and 2.1years, respectively. Most conditioning regimens were myeloablative and busulfan-based. With a median follow-up of 6.7years, the 5-years overall survival (OS) was 75% (95% CI, 0.65 - 0.82) with a superior 5-year OS for those transplanted after 2010(87% vs. 63%, p=0.01). Higher risk of death was associated to the use of haploidentical donor (HR8.86, p 0.021), unrelated cord blood (HR 8.76, p 0.005), unrelated donor (HR 5.91, p 0.02) and for HSCT performed before 2010(HR 4.16, p=0.0015). The CI of acute-GVHD was 24.8%, while chronic-GVHD was 9.5%. Major causes of death were infections(n=8), GVHD(n=6) and neurologic progression(n=3). Despite improvements in transplant outcomes since 2011, challenges persist, emphasizing the need for early diagnosis, timely transplantation, and expanding HSCT centers with expertise in the field.

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“…Despite this progress, achieving comprehensive HSCT coverage for all IEM patients in need, within the public health system, remains a goal to be pursued. 37,38…”

Section: Discussionmentioning

confidence: 99%

Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism - a retrospective analysis on behalf of the Pediatric Disease Working Party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy

Rodrigues,

Fernandes,

Gregianin

et al. 2024

Preprint

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“…27 The included studies showed disparities in the implementation of NBS among countries, with some having already launched pilot programs while others are in the early planning phases. [45][46][47][48][49] The availability of screening also depended on the country's healthcare infrastructure and resources. [50][51][52] The data from screening initiatives will prove instrumental in understanding the prevalence of PD and differentiating it from other musculoskeletal disorders.…”

Section: Screeningmentioning

confidence: 99%

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review

Rivera,

Campos,

Alegre

et al. 2024

Preprint

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Background Pompe Disease (PD) is a rare progressive autosomal recessive disorder resulting from deficient acid alpha-glucosidase (GAA) enzyme activity, necessitating timely identification and management. This scoping review aimed to synthesize the evidence regarding assessment methods for screening, diagnosing, and following up PD. Methods and Results We searched citations in English and Spanish published from 2017 until February 8, 2022, across 11 databases. We included primary studies, reviews, and guidelines that described at least one assessment method for patients with confirmed clinical, genetic, or biochemical PD. Screening and data extraction adhered to PRISMA-ScR. Data was summarized narratively and with descriptive statistics. After screening 2,139 citations, 96 met the eligibility criteria. Cross-sectional studies were the most prevalent design (28%), while guidelines were the least frequent (1%). Newborn screening availability varied among countries, despite its potential to improve PD prevalence estimations. Overall, 81 articles assessed clinical manifestations, with 47 focusing on late-onset PD. We identified considerable heterogeneity in reporting PD phenotypes. The use of dried blood spots for GAA enzyme deficiency detection was described in 18 articles, but reporting lacked standardization. Next-generation sequencing emerged as the gold standard for identifying mutated alleles. Monitoring strategies for pediatric and adult PD lacked consensus, and only one article assessed quality of life. Conclusion This scoping review summarized the evidence to comprehensively evaluate PD patients, emphasizing current practices and existing challenges that must be tackled to optimize screening, diagnosis, and follow-up of PD.

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“…The primary objective of NBS is to diagnose pediatric diseases for which effective therapeutic interventions exist, thereby mitigating symptom onset or progression and improving patient prognosis, quality of life, and familial well-being. These interventions aim to avert irreversible damage, including severe physical and cognitive impairments and, in extreme cases, mortality [41][42][43] .…”

Section: Present Situation With Ngs As a First-tier Test In Nbsmentioning

confidence: 99%

Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative

Pintos-Morell,

Iascone,

Casari

et al. 2024

Rare Dis Orphan Drugs J

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Since its inception in 1963, newborn screening (NBS) has played a pivotal role in early detection and the establishment of appropriate care for infants and children afflicted with inherited metabolic disorders (IMDs). Despite significant advancements in biomarker identification and metabolomics, current NBS protocols only cover a fraction of known IMDs. The integration of genomics holds promise for expanding the scope of standard NBS, albeit presenting additional challenges. Drawing from the experiences of the authors across three European countries, this article reviews the current landscape of conventional NBS for IMDs and explores the potential integration of genomic tools as a primary screening tier. Recommendations are provided for the seamless transition to genomic NBS, considering factors such as regional birth prevalence differentials, treatability of conditions, and technological capabilities.

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Pilot study of newborn screening for six lysosomal diseases in Brazil

Cited by 4 publications

References 64 publications

Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism - a retrospective analysis on behalf of the Pediatric Disease Working Party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy

Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism - a retrospective analysis on behalf of the Pediatric Disease Working Party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review

Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative

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