References of "DARON, Aurore"
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See detailNusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Aragon-Gawinska, Karolina; Seferian, Andreea M.; DARON, Aurore ULiege et al

in Neurology (2018), 91(14), 1312-1318

OBJECTIVE: To evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1). METHODS: Patients with SMA1 were treated with nusinersen ... [more ▼]

OBJECTIVE: To evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1). METHODS: Patients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded Access Program (EAP; NCT02865109). We evaluated patients before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. Survival, respiratory, and nutritional data were collected. Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and physiotherapist scales adjusted to patient age (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Motor Function Measure 20 or 32). RESULTS: We treated 33 children ranging in age from 8.3 to 113.1 months between December 2016 and May 2017. All patients were alive and were continuing treatment at M6. Median progress on the modified HINE-2 score was 1.5 points after 6 months of treatment (p < 0.001). The need for respiratory support significantly increased over time. There were no statistically significant differences between patients presenting with 2 and those presenting with 3 copies of the survival motor neuron 2 (SMN2) gene. CONCLUSIONS: Our results are in line with the phase 3 study for nusinersen in patients with SMA1 treated before 7 months of age and indicate that patients benefit from nusinersen even at a later stage of the disease. CLINICALTRIALSGOV IDENTIFIER: NCT02865109. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that for patients with SMA1 who are older than 7 months, nusinersen is beneficial. [less ▲]

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See detailClinical changes over time in a European and North-American cohort of patients with X-linked Myotubular Myopathy
Annoussamy, M.; Lilien, C.; Gidaro, T. et al

Poster (2018, October)

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See detailTwo years, longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy
Chabanon, A.; Annoussamy, M.; DARON, Aurore ULiege et al

Poster (2018, October)

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See detailAssociations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3
Hogrel, J.; Annoussamy, M.; Chabanon, A. et al

Poster (2018, October)

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See detailTreatment by nusinersen in spinal muscular atrophy type 1 patients older than 7 months, 14 months follow-up
Aragon-Gawinska, K.; Seferian, A.; Vanden Brande, L. et al

Poster (2018, October)

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See detailBaseline characteristics of patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study
Annoussamy, M.; Grangé, A.; Lilien, C. et al

Poster (2018, October)

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See detailProspective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
Chabanon, Aurelie; Seferian, Andreea Mihaela; DARON, Aurore ULiege et al

in PLoS ONE (2018), 13(7), 0201004

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult ... [more ▼]

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression. TRIAL REGISTRATION: ClinicalTrials.gov (NCT02391831). [less ▲]

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See detailDystonie de type 11 à début précoce
LEROY, Patricia; DARON, Aurore ULiege; DEPIERREUX, Frédérique ULiege

Conference (2017, March 25)

Description d'un cas de dystonie de type 11 (myoclonus-dystonia) à début précoce

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See detailSchizencephaly associated with a severe prothrombotic syndrome caused by antithombin III deficiency
DARON, Aurore ULiege; DRESSE, Marie-Françoise ULiege; Hoyoux, Claire ULiege et al

in Tijdschrift van de Belgische Kinderarts (2015), 17(1), 109

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See detailA novel CACNA1A mutation results in episodic ataxia with migrainous features without headache
MAGIS, Delphine ULiege; Boon, Elles; Coppola, Gianluca et al

in Cephalalgia (2012)

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See detailAspects neurologiques associés au Syndrome de Down
Vaessen, S.; DARON, Aurore ULiege; DUBRU, Jean-Marie ULiege et al

in Tijdschrift van de Belgische Kinderarts (2012), 14(2), 40-43

Summary : Down syndrome is one of best caracterized genetic syndromes. Its phenotype includes specific morphological features, mental retardation and several organic impairments such as cardiac ... [more ▼]

Summary : Down syndrome is one of best caracterized genetic syndromes. Its phenotype includes specific morphological features, mental retardation and several organic impairments such as cardiac malformations, cutaneous disorders and immunologic abnormalities. Beside these disturbances neurological disorders have been less considered or thought to be the expression of the mental retardation. However it is important to pay attention to the high incidence of epilepsy such as West syndrome in infants and “Late-Onset of myoclonic epilepsy in Down Syndrome” in the adult. They might required specific treatment. ADHD as well as autistic behavior may be difficult to diagnose especially in children with severe mental retardation. They need precise attention and rigourous follow-up of their treatment. [less ▲]

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See detailIntoxication au CO: Mouvements athétosiques
Mohring, M.-P.; Dadoumont, Caroline ULiege; DARON, Aurore ULiege et al

in Journal de Pédiatrie belge (2007)

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See detailA propos d'un cas d'hémiparésie aigue chez l'enfant
DARON, Aurore ULiege; Leroy, Patricia; Misson, Jean-Paul ULiege

in Percentile (2005), 10

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See detailIntoxicatin à la cyproheptadine: un cas clinique
Piette, Caroline ULiege; DARON, Aurore ULiege; Leroy, Patricia et al

Conference (2005)

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See detailEncéphalocéle frontoethimoidale: Encéphalite herpétique comme premier signe d'une méningite récurrente
Leroy, P.; DARON, Aurore ULiege; Weerts, E. et al

in Revista de Neurologia (2005)

Detailed reference viewed: 27 (1 ULiège)