Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry.

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry. J Comp Eff Res. 2019 Aug 15;: Authors: Muntoni F, Desguerre I, Guglieri M, Osorio AN, Kirschner J, Tulinius M, Buccella F, Elfring G, Werner C, Schilling T, Trifillis P, Zhang O, Delage A, Santos CL, Mercuri E Abstract Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (DMD) in clinical practice (NCT02369731). Here, we describe the initial demographic characteristics of the registry population. Patients &methods: Patients will be followed up from enrollment for ≥5 years or until study withdrawal. Results &conclusion: As of 9 July 2018, 213 DMD boys were enrolled from 11 countries. Mean (standard deviation) ages at first symptoms and at study treatment start were 2.7 (1.7) years and 9.8 (3.7) years, respectively. Corticosteroids were used by 190 patients (89.2%) before data cut-off. Mean (standard deviation) ataluren exposure was 639.0 (362.9) days. Six patients withdrew. STRIDE is the first drug registry for patients with DMD and represents the largest real-world registry of patients with nmDMD to date. PMID: 31414621 [PubMed - as supplied by publisher]
Source: Journal of Comparative Effectiveness Research - Category: General Medicine Tags: J Comp Eff Res Source Type: research

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In conclusion, anti-CD45RC MAb treatment has potential in the treatment of DMD and might eventually result in reduction or elimination of CS use.
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ABSTRACT In this review, we discuss the therapies used in the treatment of patients with Duchenne muscular dystrophy since the first description of the disease. A short description is given of the various theories based on disease pathogenesis, which give the substrates for the many therapeutic interventions. A brief review of the methods of evaluation used in therapeutic trials is made. Of all the treatments, the only drugs that are still considered able to modify the course of the disease are the corticosteroids (prednisone/prednisolone/deflazacort). Other drugs (coenzyme Q10 and creatine) have had a little effect in a f...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
Purpose of review The purpose of this review is to highlight updates in the standard of care recommendations for DMD, and to describe approaches to and recent advances in genetic therapies for DMD. Recent findings Treatment of DMD patients with the corticosteroids prednisone or deflazacort remains the standard of care, and recent data shows that early treatment (as young as 5 months) with a weekend dosing regimen results in measurable improvement in motor outcomes. A mutation-specific therapy directed at restoring an open reading frame by skipping exon 51 is FDA-approved, and therapies directed at other exons are in t...
Source: Current Opinion in Neurology - Category: Neurology Tags: NEUROMUSCULAR DISEASE: Edited by Michio Hirano Source Type: research
Conclusions: although the small number of patients and the wide range of disease severity among patients reduced statistical significance, we obtained an optimal profile of safety and tolerability for the compound, showing valuable data of efficacy in primary and secondary endpoints.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
CONCLUSION: To assess function of the upper extremities the Brooke upper extremity functional rating scale or the performance of upper limb test should be used. For assessment of pulmonary function measurement of forced vital capacity (FVC) is recommended. The extent of cardiac involvement can best be evaluated using cardiac magnetic resonance imaging (MRI), measurement of the ejection fraction (EF) and the left ventricular shortening fraction (LVSF) by echocardiography. The pediatric quality of life inventory should be used for assessment of quality of life. In addition, the body mass index (BMI), the number of infections...
Source: Der Nervenarzt - Category: Neurology Authors: Tags: Nervenarzt Source Type: research
Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use.
Source: BMC Neurology - Category: Neurology Authors: Tags: Research article Source Type: research
This study showed a good safety and tolerability profile of the studied substance (Monteleone et al., 2012). Since TGFβ has been described to induce the profibrogenetic response of fibroblasts, patients were monitored for 6 months with intestinal ultrasonography, not showing signs of intestinal stenosis. Moreover, half of the patients maintained remission during the 6 months follow up period (Zorzi et al., 2012). Afterwards, a randomized, double-blind, phase 2 study was conducted in CD patients with inflammatory lesions in the terminal ileum and/or right colon, with steroid-dependence/resistance, randomized to three ...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Duchenne Muscular Dystrophy (DMD) is an x-linked neuromuscular disorder that affects 1 in 5000 live-born boys [1]. DMD is characterized by progressive muscle weakening. First the pelvic girdle is affected and later on, all muscles become affected. Boys with DMD lose the ability to walk around the age of 13 when using corticosteroids [2] and their arm function also weakens around that age [3]. Consequently, DMD patients are in a wheelchair for the largest parts of their lives, and the ability to perform activities with their upper extremities (UE) becomes more and more difficult.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Publication date: February 2019Source: Biomedicine &Pharmacotherapy, Volume 110Author(s): Malvina HoxhaAbstractDuchenne muscular dystrophy (DMD) is an incurable disease, characterized by the muscle inflammation and progressive deterioration of muscle function.We discuss and review the role of arachidonic acid (AA) metabolites in DMD in muscle fiber degeneration and regeneration and new opportunities for developing new drugs by targeting the AA pathway, providing evidence that the AA pathway could represent an efficacious strategy to ameliorate the treatment of DMD patients. Currently a series of DMD care recommendation...
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research
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Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
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