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 8 publications

(5 citation statements)

References 64 publications

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“…Although consensus was based on the perspectives of LATAM clinicians, the guidelines also were intended for use in other parts of the world. Looking towards LSDs on expanded screening panels in the future, a 2020 report reviewed pilot studies for MPS in LATAM using different methodologies: MS/MS, molecular analyses, digital microfluidics, and fluorimetry [ 1120 ], and a more recent report described a NBS pilot study for six LSDs [ 1121 ] (see further studies in the Brazilian national report that follows).…”

Section: Resultsmentioning

confidence: 99%

“…A need for toxoplasmosis NBS in Brazil and elsewhere has also been questioned [ 1162 ]. The opportunities for expanded NBS have included studies of SCID [ 1163 , 1164 , 1165 ], LSDs [ 1121 , 1166 , 1167 , 1168 ], SMA [ 1169 ], and Prader–Willi and Angelman syndromes [ 1170 ]. NHS also has expanded as equipment and speech therapists have become available so that over 65% of newborns now receive hearing screening.…”

Section: Resultsmentioning

confidence: 99%

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Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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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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“…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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Pilot study of newborn screening for six lysosomal diseases in Brazil

Cited by 8 publications

References 64 publications

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

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

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