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About 4,073 results

ALLMedicine™ Spinal Muscular Atrophy Center

Research & Reviews  1,456 results

Motor Unit Recovery Following Smn Restoration in Mouse Models of Spinal Muscular Atrophy.
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...

A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy
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...

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant sp...
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...

Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal m...
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...

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Guidelines  1 results

ACOG committee opinion No. 432: spinal muscular atrophy.
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,

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Drugs  4 results see all →

Clinicaltrials.gov  45 results

A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy
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...

Hippotherapy in Children With Spinal Muscular Atrophy
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 ...

A Study to Assess the Clinical Validity of Konectom™ in Adults Living With Neuromuscular Disorders
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...

Long Term Safety of Amifampridine Phosphate in Spinal Muscular Atrophy 3
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 ...

Procedural Sedation for Pediatric Patients With Spinal Muscular Atrophy
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...

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News  120 results

Gene Therapies Could Treat Rare Diseases — but Cost Millions
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 ...

The Real Reason Some Newborns Don't Get Screening for Deadly Diseases
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...

NICE Approves First-of-its-Kind Drug for Spinal Muscular Atrophy
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...

Designer DNA Therapeutic Wipes Out Cancer Stem Cells, Treats Multiple Myeloma in Mice
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...

Baby With Spinal Muscular Atrophy Treated With Zolgensma Gene Therapy
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...

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Patient Education  3 results see all →