Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: Real world data from Hungarian patients.

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a homozygous deletion of the survival motor neuron (SMN) 1 gene. Nusinersen is an antisense oligonucleotide enhancing the production of the SMN protein. It has received approval by the European Medicines Agency (EMA) in 2017, based on the clinical trials demonstrating the effectiveness of nusinersen in several types of SMA.

The use of drugs in mothers of offspring with neural-tube defects.

Objective: To study the risk of maternal drugs use during pregnancy in the origin of isolated neural-tube defects (NTD).

Materials And Methods: 1202 cases with NTD, 38,151 population controls without any defects and 22,475 patient controls with other defects were compared in the population-based data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA), 1980-1996. The HCCSCA contains 542 drugs, however only those drugs were evaluated which included five or more mothers in the NTD group.

Parental employment status and neural-tube defects and folic acid/multivitamin supplementation in Hungary.

Objective: To study the role of parental employment status as indicator of socio-economic status (SES) in the origin of neural-tube defect (NTD) and in the use of periconceptional folic acid/multivitamin supplementation.

Materials And Methods: One thousand two hundred and two cases with neural-tube defects, 38,151 population controls without any defects and 22,475 patient controls with other defects were compared in the population-based data set of the Hungarian case-control surveillance of congenital abnormalities, 1980-1996.

Results: The proportion of professionals was lower, while the proportion of semi- and unskilled workers was higher in the neural-tube defect group compared with the population control group.

An evaluation of maternal illnesses in the origin of neural-tube defects.

Objective: The objective of the study was to estimate risk of acute and chronic maternal diseases during pregnancy in the origin of neural-tube defects.

Materials And Methods: Mothers with neural-tube defect fetuses/newborns (the NTD group), controls without any congenital defects (the normal control group) and controls with other defects (the other CA control group) were compared in the population-based data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996. Of 1,202 cases with neural tube defects, 559 (49.

Periconceptional multivitamin supplementation and multimalformed offspring.

Objective: To study the human teratogenic risk of a folic acid-containing multivitamin.

Methods: We evaluated the data set of two Hungarian intervention studies: a randomized double-blind, controlled trial and a two-cohort, controlled study of the same folic acid-containing multivitamin in participants of the Hungarian periconceptional service.

Results: Of 2471 supplemented and 2391 unsupplemented women, 18 and 21, respectively, had multiple congenital abnormalities in the randomized, controlled trial.