Literature DB >> 31486315

[(S)un (M)ay (A)rise on SMA : the hope of a region without spinal muscular atrophy].

F Boemer1, J H Caberg1, V Dideberg1, P Beckers1, S Marie2, L Marcelis3, V Bours1, T Dangouloff4, L Servais5.   

Abstract

The treatment of spinal muscular atrophy (SMA) has considerably changed over the last 3 years. Several approaches that aim to increase the deficient SMN protein have demonstrated an efficacy that is inversely correlated with disease duration. In this context, newborn screening (NBS) is increasingly considered as the next step in several countries or regions. In 2018, we initiated a pilot study for NBS of SMA in French- and German-speaking Belgium. We aim to evaluate the feasibility, the efficacy, and the cost-effectiveness of such a program. Initially covering the region of Liege, the program was recently extended to the whole Southern Belgium and currently covers about 55.000 newborns per year. On June 1st 2019, 35.000 newborns had been screened and 5 affected babies were identified and referred to neuromuscular centers for early treatment. A full evaluation of the program will take place after three years to consider the inclusion of SMA screening in the publically-funded NBS program in Southern Belgium.

Entities:  

Keywords:  Newborn screening ; SMA – Werdnig Hoffmann disease ; SMN1; Spinal muscular atrophy

Mesh:

Year:  2019        PMID: 31486315

Source DB:  PubMed          Journal:  Rev Med Liege        ISSN: 0370-629X


  5 in total

1.  Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives.

Authors:  Tamara Dangouloff; Laurent Servais
Journal:  Ther Clin Risk Manag       Date:  2019-10-02       Impact factor: 2.423

2.  Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.

Authors:  Pablo Beckers; Jean-Hubert Caberg; Vinciane Dideberg; Tamara Dangouloff; Johan T den Dunnen; Vincent Bours; Laurent Servais; François Boemer
Journal:  Sci Rep       Date:  2021-02-04       Impact factor: 4.379

Review 3.  Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy.

Authors:  Maria Jędrzejowska
Journal:  Degener Neurol Neuromuscul Dis       Date:  2020-12-15

4.  The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.

Authors:  Siiri Sarv; Tiina Kahre; Eve Vaidla; Sander Pajusalu; Kai Muru; Haide Põder; Katrin Gross-Paju; Sandra Ütt; Riina Žordania; Inga Talvik; Eve Õiglane-Shlik; Kristina Muhu; Katrin Õunap
Journal:  Front Genet       Date:  2021-12-22       Impact factor: 4.599

5.  Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

Authors:  François Boemer; Jean-Hubert Caberg; Pablo Beckers; Vinciane Dideberg; Samantha di Fiore; Vincent Bours; Sandrine Marie; Joseph Dewulf; Lionel Marcelis; Nicolas Deconinck; Aurore Daron; Laura Blasco-Perez; Eduardo Tizzano; Mickaël Hiligsmann; Jacques Lombet; Tatiana Pereira; Lucia Lopez-Granados; Sarvnaz Shalchian-Tehran; Véronique van Assche; Arabelle Willems; Sofie Huybrechts; Bénédicte Mast; Rudolf van Olden; Tamara Dangouloff; Laurent Servais
Journal:  Sci Rep       Date:  2021-10-07       Impact factor: 4.379

  5 in total

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