ALLMedicine™ Spinal Muscular Atrophy Center
Research & Reviews 1,456 results
https://doi.org/10.1093/hmg/ddac097
Human Molecular Genetics; Comley LH, Kline RA et. al.
May 14th, 2022 - Spinal Muscular Atrophy (SMA) is a childhood motor neuron disease caused by anomalies in the SMN1 gene. Although therapeutics have been approved for the treatment of SMA, there is a therapeutic time window, after which efficacy is reduced. Hallmar...
https://clinicaltrials.gov/ct2/show/NCT03032172
May 10th, 2022 - This is a multi-center, exploratory, non-comparative, and open-label study to investigate the safety, tolerability, PK, and PK/PD relationship of risdiplam in adults, children and infants with Spinal Muscular Atrophy (SMA) previously enrolled in S...
https://doi.org/10.1016/j.braindev.2022.04.006
Brain & Development; Yamamoto K, Ohashi K et. al.
May 9th, 2022 - Bicaudal D homolog 2 (BICD2) is a causative gene of autosomal-dominant lower extremity-predominant spinal muscular atrophy-2 (SMA-LED2). The severity of SMA-LED2 varies widely, ranging from cases in which patients are able to walk to cases in whic...
https://doi.org/10.1016/j.nmd.2022.04.003
Neuromuscular Disorders : NMD; Fainmesser Y, Drory VE et. al.
May 9th, 2022 - The effectiveness of nusinersen treatment in patients with spinal muscular atrophy (SMA) was established in clinical trials only for pediatric patients. Few cohort studies confirmed its benefit in adults up to 22 months of treatment. We report a l...
https://doi.org/10.1007/s00431-022-04470-3 10.1038/s41582-020-00413-4 10.1056/NEJMoa1706198 10.1056/NEJMoa1702752 10.1056/NEJMoa1710504 10.1056/NEJMoa2009965 10.1056/NEJMoa2102047 10.1016/j.nmd.2019.09.007 10.1016/j.nmd.2019.02.003 10.1038/gim.2017.152 10.1186/s13023-021-01783-8 10.1038/s41436-019-0673-0 10.1038/s41436-020-0824-3 10.1067/S0022-3476(03)00393-7 10.1016/j.nmd.2009.11.014 10.1016/S0022-3476(98)70279-3 10.1016/S1090-3798(99)80012-9 10.1016/j.nmd.2017.09.015 10.1016/j.nmd.2017.06.559 10.1016/j.nmd.2018.01.003 10.1016/j.nmd.2015.04.009
European Journal of Pediatrics; Pane M, Donati MA et. al.
May 7th, 2022 - The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate the possible presence of early neurological signs. The aim of this stu...
Guidelines 1 results
https://doi.org/10.1097/AOG.0b013e3181a6d03a
Obstetrics and Gynecology;
Apr 23rd, 2009 - ACOG committee opinion No. 432: spinal muscular atrophy.|2009||diagnosis,genetics,genetics,
Drugs 4 results see all →
Clinicaltrials.gov 45 results
https://clinicaltrials.gov/ct2/show/NCT03032172
May 10th, 2022 - This is a multi-center, exploratory, non-comparative, and open-label study to investigate the safety, tolerability, PK, and PK/PD relationship of risdiplam in adults, children and infants with Spinal Muscular Atrophy (SMA) previously enrolled in S...
https://clinicaltrials.gov/ct2/show/NCT05341453
Apr 22nd, 2022 - Spinal muscular atrophy is rare neuromuscular disease, it is caused by gene mutation SMN1. This gene encodes SMN protein. This protein is most important to survive alfa-motoric neurons in spinal cord. When this protein doesn´t work, no signals go ...
https://clinicaltrials.gov/ct2/show/NCT05109637
Apr 19th, 2022 - The primary objective of the study is to explore the convergent validity of smartphone-based Konectom DOAs against in-clinic standard assessments. The secondary objectives of this study are to evaluate the test-retest reliability of smartphone-bas...
https://clinicaltrials.gov/ct2/show/NCT03819660
Mar 29th, 2022 - This open-label, long term safety study is designed to evaluate the safety of amifampridine phosphate in ambulatory patients diagnosed SMA Type 3 over an extended period. The study is planned to include approximately 12 male and female SMA Type 3 ...
https://clinicaltrials.gov/ct2/show/NCT05291962
Mar 23rd, 2022 - Design: This research is a retrospective obsevational study. Methods: After approval Institutional Review Board, data from anesthesia charts and electronic medical records of 14 patients with SMA type I, II and III who underwent procedural sedatio...
News 120 results
https://www.medscape.com/viewarticle/965754
Dec 29th, 2021 - A biotechnology and policy expert shines a light on the looming gene therapies soon to hit the market, and the payment strategies needed to get them to patients. What to Know: The most expensive drug in the world is Zolgensma, which treats spinal ...
https://www.medpagetoday.com/pediatrics/generalpediatrics/96333
Dec 21st, 2021 - Shannon Smith describes her daughter's birth as not all that eventful. She and her husband drove 10 minutes from their home in rural Alabama across the state line to a hospital in Georgia where they had scheduled a C-section for what was anticipat...
https://www.medscape.com/viewarticle/963348
Nov 19th, 2021 - About 1500 people with spinal muscular atrophy (SMA) could be set to benefit from a new first-of-its-kind treatment, following an agreement between NICE and the manufacturers, Roche. In draft guidance, NICE has recommended risdiplam (Evrysdi) as a...
https://www.onclive.com/view/designer-dna-therapeutic-wipes-out-cancer-stem-cells-treats-multiple-myeloma-in-mice
Aug 17th, 2021 - Many patients with multiple myeloma, a type of blood cancer, eventually develop resistance to one treatment after another. That’s in part because cancer stem cells drive the disease — cells that continually self-renew. If a therapy can’t completel...
https://www.medscape.com/viewarticle/952157
Jun 1st, 2021 - A 5-month old baby has become the first patient in England to receive a potentially life-saving drug on the NHS that could prevent paralysis and prolong the lives of children with spinal muscular atrophy (SMA). Baby Arthur with father, Reece/NHS E...
