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Announcing: Special Issue | Volume 8, Issue 3

Treatabolome, an Emerging Concept

Guest Editor: Gisèle Bonne, PhD

Guest Editor Gisèle Bonne comments in the issue's editorial: "It is with a great pleasure that we introduce the first special issue of the Journal of Neuromuscular Diseases dedicated to the “Treatabolome”, a new concept emerging from a European Project addressing unsolved rare diseases (Solve-RD). This open access special issue covers gene and variant-specific treatments for rare diseases, particularly rare neurological and neuromuscular disorders, thereby highlighting the important premise that a precise genetic diagnosis may result in equally precise therapeutic approaches. Although such targeted treatments are currently only available to a minority of RD patients, recent developments point towards a steep increase in the coming years, as suggested by the development of multiple gene therapies and the steady increase in the number of orphan drug applications."

JND News

Indexing Update

JND to appear in Science Citation Index-Expanded

JND Articles in the News

Recent press releases relating to JND content

New Study Expands Evaluation of Gene Therapy for Spinal Muscular Atrophy: The rarity of spinal muscular atrophy (SMA) means that promising new treatments may be tested in only a limited spectrum of patients before approval. Investigators evaluated a newly approved drug, onasemnogene abeparvovec, in a broader spectrum of patients in order to obtain expanded data on its side effects profile. They report in JND that the drug is associated with an immune response against the adeno-associated viral vector and needs careful monitoring, but showed no long-term adverse effects.

View the open access study here
View the full press release here

Neuromuscular Disease Registry Helps Patients Access Research, Clinical Trials, New Genetic Tests, and Therapies: The Canadian Neuromuscular Disease Registry (CNDR) was launched in 2010 to increase efficient patient access to cutting-edge research and clinical trials, to increase understanding of the natural history and epidemiology of neuromuscular disease across Canada, and to facilitate research collaboration. An assessment of CNDR’s accomplishments found that it has been successful in securing funding and engaging the community over the past 10 years.

View the open access study here
View the full press release here

Most Read JND Articles in April 2021

Listing articles published only in 2020 and 2021 so you can read the most popular recent content

Molecular Mechanisms of Skeletal Muscle Hypertrophy – Open Access (Review Article in Vol.8, Iss.2, 2021)
Schiaffino, Stefano | Reggiani, Carlo | Akimoto, Takayuki | Blaauw, Bert

Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care – Open Access (Review Article in Vol.7, Iss.1, 2020)
Schorling, David C. | Pechmann, Astrid | Kirschner, Janbernd

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2 – Open Access (Short Communication, Vol.7, Iss.2, 2020)
Glascock, Jacqueline | Sampson, Jacinda | Connolly, Anne M. | Darras, Basil T. | Day, John W. | Finkel, Richard | Howell, R. Rodney | Klinger, Katherine W. | et al.

Advancements in AAV-mediated Gene Therapy for Pompe Disease – Open Access (Review Article in Vol.7, Iss.1, 2020)
Salabarria, S.M. | Nair, J. | Clement, N. | Smith, B.K. | Raben, N. | Fuller, D.D. | Byrne, B.J. | Corti, M.

COVID-19 in Refractory Myasthenia Gravis- A Case Report of Successful Outcome – Open Access (Case Report in Vol.7, Iss.3, 2020)
Ramaswamy, Swathi Beladakere | Govindarajan, Raghav