Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data
CONCLUSIONS: The large quantity of missing data and heterogeneity of studies hinder comparability. Although stability and further improvement on the long-term is still uncertain, the results from the included evidence, as well as from pivotal trials show a striking contrast to the natural progression of the disease.PMID:35533607 | DOI:10.1016/j.ejpn.2022.04.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 9, 2022 Category: Neurology Authors: Judit Erdos Claudia Wild Source Type: research

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data
CONCLUSIONS: The large quantity of missing data and heterogeneity of studies hinder comparability. Although stability and further improvement on the long-term is still uncertain, the results from the included evidence, as well as from pivotal trials show a striking contrast to the natural progression of the disease.PMID:35533607 | DOI:10.1016/j.ejpn.2022.04.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 9, 2022 Category: Neurology Authors: Judit Erdos Claudia Wild Source Type: research

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data
CONCLUSIONS: The large quantity of missing data and heterogeneity of studies hinder comparability. Although stability and further improvement on the long-term is still uncertain, the results from the included evidence, as well as from pivotal trials show a striking contrast to the natural progression of the disease.PMID:35533607 | DOI:10.1016/j.ejpn.2022.04.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 9, 2022 Category: Neurology Authors: Judit Erdos Claudia Wild Source Type: research

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data
CONCLUSIONS: The large quantity of missing data and heterogeneity of studies hinder comparability. Although stability and further improvement on the long-term is still uncertain, the results from the included evidence, as well as from pivotal trials show a striking contrast to the natural progression of the disease.PMID:35533607 | DOI:10.1016/j.ejpn.2022.04.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 9, 2022 Category: Neurology Authors: Judit Erdos Claudia Wild Source Type: research

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data
CONCLUSIONS: The large quantity of missing data and heterogeneity of studies hinder comparability. Although stability and further improvement on the long-term is still uncertain, the results from the included evidence, as well as from pivotal trials show a striking contrast to the natural progression of the disease.PMID:35533607 | DOI:10.1016/j.ejpn.2022.04.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 9, 2022 Category: Neurology Authors: Judit Erdos Claudia Wild Source Type: research

Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group
This study shows that microcephaly occurs less often than previously thought in patients with GLUT1DS, and that primary or secondary microcephaly does not seem to be a sign for clinicians to suspect GLUT1DS. As a group, however, patients with GLUT1DS seem to have decreased head circumference compared to healthy individuals and as such, our study suggests that early brain development and brain growth may be compromised in GLUT1DS.PMID:35500464 | DOI:10.1016/j.ejpn.2022.04.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 2, 2022 Category: Neurology Authors: Loes A van Gemert Wilhelmina G Leen Jos M Draaisma Nel Roeleveld Mich èl A Willemsen Source Type: research

Deflazacort dose optimization and safety evaluation in Duchenne muscular dystrophy (DOSE): A randomized, double-blind non-inferiority trial
DISCUSSION: The efficacy of proposed low dose deflazacort in comparison to the standard dose did not meet the prespecified criteria for non-inferiority. The low dose deflazacort was non-inferior in subgroup of patients with age ≤7 years and baseline 6MWD of >350 m.TRIAL REGISTRATION: Clinical Trial Registry-India Identifier: CTRI/2019/02/017388.PMID:35500465 | DOI:10.1016/j.ejpn.2022.04.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 2, 2022 Category: Neurology Authors: Chaithanya Reddy Amol N Patil Renu Suthar Naveen Sankhyan Titiksha Sirari Ankit Kumar Samiksha Bhattacharjee Somya Saxena Arushi G Saini Jitendra K Sahu Source Type: research

Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group
This study shows that microcephaly occurs less often than previously thought in patients with GLUT1DS, and that primary or secondary microcephaly does not seem to be a sign for clinicians to suspect GLUT1DS. As a group, however, patients with GLUT1DS seem to have decreased head circumference compared to healthy individuals and as such, our study suggests that early brain development and brain growth may be compromised in GLUT1DS.PMID:35500464 | DOI:10.1016/j.ejpn.2022.04.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 2, 2022 Category: Neurology Authors: Loes A van Gemert Wilhelmina G Leen Jos M Draaisma Nel Roeleveld Mich èl A Willemsen Source Type: research

Deflazacort dose optimization and safety evaluation in Duchenne muscular dystrophy (DOSE): A randomized, double-blind non-inferiority trial
DISCUSSION: The efficacy of proposed low dose deflazacort in comparison to the standard dose did not meet the prespecified criteria for non-inferiority. The low dose deflazacort was non-inferior in subgroup of patients with age ≤7 years and baseline 6MWD of >350 m.TRIAL REGISTRATION: Clinical Trial Registry-India Identifier: CTRI/2019/02/017388.PMID:35500465 | DOI:10.1016/j.ejpn.2022.04.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 2, 2022 Category: Neurology Authors: Chaithanya Reddy Amol N Patil Renu Suthar Naveen Sankhyan Titiksha Sirari Ankit Kumar Samiksha Bhattacharjee Somya Saxena Arushi G Saini Jitendra K Sahu Source Type: research

Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group
This study shows that microcephaly occurs less often than previously thought in patients with GLUT1DS, and that primary or secondary microcephaly does not seem to be a sign for clinicians to suspect GLUT1DS. As a group, however, patients with GLUT1DS seem to have decreased head circumference compared to healthy individuals and as such, our study suggests that early brain development and brain growth may be compromised in GLUT1DS.PMID:35500464 | DOI:10.1016/j.ejpn.2022.04.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 2, 2022 Category: Neurology Authors: Loes A van Gemert Wilhelmina G Leen Jos M Draaisma Nel Roeleveld Mich èl A Willemsen Source Type: research

Deflazacort dose optimization and safety evaluation in Duchenne muscular dystrophy (DOSE): A randomized, double-blind non-inferiority trial
DISCUSSION: The efficacy of proposed low dose deflazacort in comparison to the standard dose did not meet the prespecified criteria for non-inferiority. The low dose deflazacort was non-inferior in subgroup of patients with age ≤7 years and baseline 6MWD of >350 m.TRIAL REGISTRATION: Clinical Trial Registry-India Identifier: CTRI/2019/02/017388.PMID:35500465 | DOI:10.1016/j.ejpn.2022.04.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 2, 2022 Category: Neurology Authors: Chaithanya Reddy Amol N Patil Renu Suthar Naveen Sankhyan Titiksha Sirari Ankit Kumar Samiksha Bhattacharjee Somya Saxena Arushi G Saini Jitendra K Sahu Source Type: research

Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group
This study shows that microcephaly occurs less often than previously thought in patients with GLUT1DS, and that primary or secondary microcephaly does not seem to be a sign for clinicians to suspect GLUT1DS. As a group, however, patients with GLUT1DS seem to have decreased head circumference compared to healthy individuals and as such, our study suggests that early brain development and brain growth may be compromised in GLUT1DS.PMID:35500464 | DOI:10.1016/j.ejpn.2022.04.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 2, 2022 Category: Neurology Authors: Loes A van Gemert Wilhelmina G Leen Jos M Draaisma Nel Roeleveld Mich èl A Willemsen Source Type: research

Deflazacort dose optimization and safety evaluation in Duchenne muscular dystrophy (DOSE): A randomized, double-blind non-inferiority trial
DISCUSSION: The efficacy of proposed low dose deflazacort in comparison to the standard dose did not meet the prespecified criteria for non-inferiority. The low dose deflazacort was non-inferior in subgroup of patients with age ≤7 years and baseline 6MWD of >350 m.TRIAL REGISTRATION: Clinical Trial Registry-India Identifier: CTRI/2019/02/017388.PMID:35500465 | DOI:10.1016/j.ejpn.2022.04.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 2, 2022 Category: Neurology Authors: Chaithanya Reddy Amol N Patil Renu Suthar Naveen Sankhyan Titiksha Sirari Ankit Kumar Samiksha Bhattacharjee Somya Saxena Arushi G Saini Jitendra K Sahu Source Type: research

Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group
This study shows that microcephaly occurs less often than previously thought in patients with GLUT1DS, and that primary or secondary microcephaly does not seem to be a sign for clinicians to suspect GLUT1DS. As a group, however, patients with GLUT1DS seem to have decreased head circumference compared to healthy individuals and as such, our study suggests that early brain development and brain growth may be compromised in GLUT1DS.PMID:35500464 | DOI:10.1016/j.ejpn.2022.04.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 2, 2022 Category: Neurology Authors: Loes A van Gemert Wilhelmina G Leen Jos M Draaisma Nel Roeleveld Mich èl A Willemsen Source Type: research

Deflazacort dose optimization and safety evaluation in Duchenne muscular dystrophy (DOSE): A randomized, double-blind non-inferiority trial
DISCUSSION: The efficacy of proposed low dose deflazacort in comparison to the standard dose did not meet the prespecified criteria for non-inferiority. The low dose deflazacort was non-inferior in subgroup of patients with age ≤7 years and baseline 6MWD of >350 m.TRIAL REGISTRATION: Clinical Trial Registry-India Identifier: CTRI/2019/02/017388.PMID:35500465 | DOI:10.1016/j.ejpn.2022.04.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 2, 2022 Category: Neurology Authors: Chaithanya Reddy Amol N Patil Renu Suthar Naveen Sankhyan Titiksha Sirari Ankit Kumar Samiksha Bhattacharjee Somya Saxena Arushi G Saini Jitendra K Sahu Source Type: research