Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls

Viscidi, Emma; Juneja, Maneesh; Wang, Jin; Wang, Nasha; Li, Li; Farwell, Wildon; Bhan, Ishir; Makepeace, C.; Laird, Karen; Kupelian, Varant; Eaton, Susan; Dilley, Anne; Hall, Susan A.

doi:10.1007/s40120-021-00307-7

Cited by 3 publications

(2 citation statements)

References 14 publications

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“…SMA presents a continuous spectrum of severity; nevertheless, five phenotypes (from the most severe congenital form—type 0—to the mildest form—type 4) are traditionally recognized, based on both age of onset and the greatest milestone achieved by patients [ 1 , 6 ]. SMA phenotypes vary in severity, however, in all cases, the impact of muscle weakness is always devastating across the spectrum [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

Cattinari,

de Lemus,

Tizzano

2024

Orphanet J Rare Dis

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Background Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability. Over the last decade, SMA has dramatically changed thanks to new advances in care and the emergence of disease-specific treatments. RegistrAME is a self-reported specific disease registry with an accurate curation system. It has collected data on SMA patients in Spain since 2015, gathering demographic, clinical, and patient-reported outcome data, all of which are patient-relevant. RegistrAME is part of the TREAT NMD network. This study aims to describe the advantages and disadvantages of a self–reported SMA registry, as well as the different variables of interest in the health status of RegistrAME patients. Results In total, 295 living patients with a confirmed diagnosis of SMA-5q were included (aged 1 to 77 years; mean 20.28). Half of the patients (50.2%) were ≥ 16 years old; 22.03% were type 1, 48.47% were type 2, 28.82% were type 3, and 0.7% were type 4. All functional statuses (non-sitter, sitter, and walkers) could be observed in each SMA type. Adult patients harbored the least aggressive SMA types, however, they presented the greatest level of disability. Patients with SMA type 1 had scoliosis surgery about five years earlier than patients with SMA type 2. None of the type 1 patients who achieved ambulation were wheelchair-free outdoors. This was also evident in 62.5% of type 2 walker patients and 44% of type 3 walker patients. Of the SMA type 1 patients, 40% had a gastrostomy (of which 84% had two SMN2 copies). One in five children with SMA type 1 (one to seven years of age) were ventilation-free. Conclusions The information provided by RegistrAME in a “real-world” setting allows better management of family expectations, an adequate approach to the disease and patients’ needs, as well as a better understanding of the impact of the disease. It also helps monitor the evolution of care, which will result in the need for updated guidelines.

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Section: Introductionmentioning

confidence: 99%

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

Cattinari,

de Lemus,

Tizzano

2024

Orphanet J Rare Dis

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“…With an incidence of 1:6,000 to 1:10,000, SMA is the most common inherited neurodegenerative disease and was the leading genetic cause of death in early childhood [7,8]. The severity of symptoms depends on the SMA type classification, which is based on age of onset and achieved motor function [9]. The survival motor neuron (SMN) protein is encoded by two genes, the main functional SMN1 gene and the paralog SMN2 gene.…”

Section: Introductionmentioning

confidence: 99%

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

Tesorero

Janda²,

Hörster³

et al. 2023

PLoS ONE

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Early diagnosis of severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD) improves health outcomes by providing a specific treatment before the onset of symptoms. A high-throughput nucleic acid-based method in newborn screening (NBS) has been shown to be fast and cost-effective in the early detection of these diseases. Screening for SCD has been included in Germany’s NBS Program since Fall 2021 and typically requires high-throughput NBS laboratories to adopt analytical platforms that are demanding in terms of instrumentation and personnel. Thus, we developed a combined approach applying a multiplexed quantitative real-time PCR (qPCR) assay for simultaneous SCID, SMA, and 1st-tier SCD screening, followed by a tandem mass spectrometry (MS/MS) assay for 2nd-tier SCD screening. DNA is extracted from a 3.2-mm dried blood spot from which we simultaneously quantify T-cell receptor excision circles for SCID screening, identify the homozygous SMN1 exon 7 deletion for SMA screening, and determine the integrity of the DNA extraction through the quantification of a housekeeping gene. In our two-tier SCD screening strategy, our multiplex qPCR identifies samples carrying the HBB: c.20A>T allele that is coding for sickle cell hemoglobin (HbS). Subsequently, the 2nd tier MS/MS assay is used to distinguish heterozygous HbS/A carriers from samples of patients with homozygous or compound heterozygous SCD. Between July 2021 and March 2022, 96,015 samples were screened by applying the newly implemented assay. The screening revealed two positive SCID cases, while 14 newborns with SMA were detected. Concurrently, the qPCR assay registered HbS in 431 samples which were submitted to 2nd-tier SCD screening, resulting in 17 HbS/S, five HbS/C, and two HbS/β thalassemia patients. The results of our quadruplex qPCR assay demonstrate a cost-effective and fast approach for a combined screening of three diseases that benefit from nucleic-acid based methods in high-throughput NBS laboratories.

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Burden of disease of spinal muscular atrophy linked to chromosome 5q (5q-SMA) in Colombia

Gil-Rojas¹,

Süárez-Obando

Amaya-Granados³

et al. 2023

Expert Review of Pharmacoeconomics & Outcomes Research

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Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls

Cited by 3 publications

References 14 publications

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

Burden of disease of spinal muscular atrophy linked to chromosome 5q (5q-SMA) in Colombia

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