References of "Dangouloff, Tamara"
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See detail244th ENMC International Workshop: Newborn screening in Spinal Muscular Atrophy May 10-12, 2019, Hoofdorp, The Netherlands
Dangouloff, Tamara ULiege; Burghes, Arthur; Bertini, Enrico et al

in Neuromuscular Disorders (2019)

•Efficacy of new treatments in SMA is better in pre than in post-symptomatic patients •NBS is complementary of carriers screening, with different false negatives •Pilot projects of SMA NBS have started or ... [more ▼]

•Efficacy of new treatments in SMA is better in pre than in post-symptomatic patients •NBS is complementary of carriers screening, with different false negatives •Pilot projects of SMA NBS have started or are planned to start in several countries •Questions remain on SMN2 quantification and management of patients with 4 copies •We propose a strategy to launch an evidence-based approach for these patients [less ▲]

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See detail(S)un (M)ay (A)rise on SMA : l'espoir d'une region sans amyotrophie spinale.
BOEMER, François ULiege; CABERG, Jean-Hubert ULiege; DIDEBERG, Vinciane ULiege et al

in Revue medicale de Liege (2019), 74(9), 461-464

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 ... [more ▼]

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. [less ▲]

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See detailAmyotrophie spinale infantile (R)évolution thérapeutique
Daron, Aurore ULiege; DELSTANCHE, Stéphanie ULiege; Dangouloff, Tamara ULiege et al

in Revue Médicale de Liège (2019), 74(2), 82-85

Summary: Spinal muscular atrophy (SMA) is an auto-somal recessive neuromuscular disorder. The infantile form is the most common genetic cause of infantile death due to respiratory insufficiency. The ... [more ▼]

Summary: Spinal muscular atrophy (SMA) is an auto-somal recessive neuromuscular disorder. The infantile form is the most common genetic cause of infantile death due to respiratory insufficiency. The disorder is caused by the premature death of motor neurons of anterior horn, leading to progressive weakness and muscular atrophy. Longtime considered as untreatable, the pathology knew a real revolution during the last two years. Views on this terrible disease have completely changed, changing, therefore, the management of the patients and constituting new challenges. © 2019 Revue Medicale de Liege. All Rights Reserved. [less ▲]

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See detailReducing the diagnosis time of neonatal screening by optimizing the screening process: the southern Belgian experience
Dangouloff, Tamara ULiege; Boemer, F.; Caberg, J. et al

in Neuromuscular Disorders (2019), 29

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See detailClinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives.
Dangouloff, Tamara ULiege; Servais, Laurent ULiege

in Therapeutics and Clinical Risk Management (2019), 15

Recent advances in the treatment of spinal muscular atrophy (SMA) have dramatically altered prognosis. Rather than a rapidly lethal disease, SMA type 1, the most severe form with the earliest onset of SMA ... [more ▼]

Recent advances in the treatment of spinal muscular atrophy (SMA) have dramatically altered prognosis. Rather than a rapidly lethal disease, SMA type 1, the most severe form with the earliest onset of SMA, has become a disease in which long-term event-free survival with the acquisition of important motor milestones is likely. Prognosis for patients with SMA type 2 has shifted from slow and progressive deterioration to long-term stability. Nevertheless, there is a large heterogeneity in terms of clinical response to currently available treatments, ranging from absence of response to impressive improvement. The only factor identified that is predictive of treatment success is the age of the patient at the initiation of treatment, which is closely related to disease duration. The aim of this paper is to review available evidence that support early intervention using currently available treatment approaches. [less ▲]

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See detailNewborn screening for SMA in Southern Belgium
Boemer, François ULiege; CABERG, Jean-Hubert ULiege; Dideberg, Vinciane ULiege et al

in Neuromuscular Disorders (2019)

Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the societal burden of SMA-related disability, the ... [more ▼]

Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the societal burden of SMA-related disability, the implementation of a newborn screening program is warranted. We describe the stepwise process that led us to launch a newborn screening program for SMA in Southern Belgium. Different political, ethical, and clinical partners were informed about this project and were involved in its governance, as were genetic and screening labs. We developed and validated a newborn screening method to specifically recognize homozygous deletions of exon 7 in the SMN1 gene. Subsequently, a 3-year pilot study has been recently initiated in one Belgian neonatal screening laboratory to cover 17.000 neonates per year. Coverage extension to all of Southern Belgium to screen 55.000 babies each year is underway. © 2019 Elsevier B.V. [less ▲]

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