New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.
Expert Rev Clin Pharmacol
; 12(8): 757-770, 2019 Aug.
Article
en En
| MEDLINE
| ID: mdl-31220956
ABSTRACT
Introduction:
Genetic neuromuscular diseases (NMDs) constitute a heterogeneous group of rare conditions, including some of the most disabling conditions in childhood. Recently, advanced technologies have greatly expanded preclinical and clinical research, and specific therapies have been developed. Area covered We provide an overview of novel pharmacological approaches to the main NMDs, including Duchenne muscular dystrophy (DMD), spina muscular atrophy (SMA), X-linked myotubular myopathy, Pompe disease (PD), and myotonic dystrophy type 1, with attention to both achievements and unresolved therapeutic challenges. We conducted a selected review of relevant publications in the last five years identified through PubMed and Scopus. Additional information was derived from the website of clinicaltrials.gov and from the authors' direct knowledge of research activities. Expert Opinion For the first time, targeted therapies have received conditional regulatory approval and have been introduced into clinical care enzyme replacement therapy for PD, gene expression modulation for DMD and SMA, and gene therapy for SMA. Though not curative, these treatments can improve functioning and increase survival. Issues still to be addressed include early recognition, definition of new emerging phenotypes, development of more sensitive outcome measures, long-term risk-benefit estimates, high costs sustainability, and criteria for therapy initiation and discontinuation.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Terapia Genética
/
Terapia Molecular Dirigida
/
Enfermedades Neuromusculares
Tipo de estudio:
Prognostic_studies
Límite:
Animals
/
Child
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Humans
Idioma:
En
Revista:
Expert Rev Clin Pharmacol
Año:
2019
Tipo del documento:
Article
País de afiliación:
Italia