Article (Scientific journals)
(S)un (M)ay (A)rise on SMA : l'espoir d'une region sans amyotrophie spinale.
BOEMER, François; CABERG, Jean-Hubert; DIDEBERG, Vinciane et al.
2019In Revue Médicale de Liège, 74 (9), p. 461-464
Peer reviewed


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Keywords :
Newborn screening; SMA - Werdnig Hoffmann disease; SMN1; Spinal muscular atrophy
Abstract :
[en] 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.
Disciplines :
Author, co-author :
BOEMER, François  ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire Biochimie Génétique
CABERG, Jean-Hubert ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Unité de laboratoire - neurogénétique
DIDEBERG, Vinciane ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire génétique moléculaire
BECKERS, Pablo ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Pool assistant - biologie clinique
Marie, Sandrine
Marcelis, Lionel
Bours, Vincent ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine
Dangouloff, Tamara  
Servais, Laurent ;  Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie
Language :
Title :
(S)un (M)ay (A)rise on SMA : l'espoir d'une region sans amyotrophie spinale.
Alternative titles :
[en] (S)un (M)ay (A)rise on SMA : the hope of a region without spinal muscular atrophy
Publication date :
September 2019
Journal title :
Revue Médicale de Liège
Publisher :
Université de Liège. Revue Médicale de Liège, Liège, Belgium
Volume :
Issue :
Pages :
Peer reviewed :
Peer reviewed
Available on ORBi :
since 12 September 2019


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