Blog Archives
Publication of results from the IONIS-DMPKRx trial in DM1
IONIS-DMPKRx, also known as baliforsen is an antisense oligonucleotide developed by IONIS Pharmaceuticals in DM1. It was tested in a Phase I/II clinical trial in 48 patients between 2014 and 2016. The results were published in the Lancet Neurology journal in March 2023, confirming the initial results announced by press release in 2017: The product … [Read more]
Low-carbohydrate ketogenic diet and McArdle’s disease: results of an international survey
An international survey of 183 people with McArdle’s disease in 18 countries, including France, was conducted to gather their experiences with the low-carbohydrate, high-fat ketogenic diet. The results show that: one third of the participants have tried this diet, among them, nearly 90% reported positive effects on McArdle’s disease symptoms (exercise intolerance, muscle pain and … [Read more]
Differentiated complement activation profiles in myasthenia gravis
German and English researchers studied the profile of complement activation in patients with myasthenia gravis, both seropositive and seronegative, and with and without standard immunosuppressive therapy. In the cohort of acetylcholine receptor-positive patients (AChR-Ab+), complement activation was confirmed in contrast to the other cohorts studied (MuSK+ patients, HIV-negative patients, control subjects) Some of this activation … [Read more]
A plea for less invasive muscle biopsy techniques
Australian researchers reviewed the medical literature on the practice of muscle biopsy. In particular, their interest and performance at the diagnostic level were studied, as well as the rate of complications inherent to this invasive procedure. 66 published studies were included in the review. 60% of the studies reported general anesthesia prior to open muscle … [Read more]
ERN EURO-NMD webinar, 4th May – Dr Ulrike Schara-Schmidt (Germany)
Floppy child 4th May 2023 at 16:00 Paris Time Dr Ulrike Schara-Schmidt (University Clinics Essen, Essen, Germany) Registration: https://zoom.us/webinar/register/WN_pY17Imm6S8-dAcL9JSXwQQ Organised by EURO-NMD in collaboration with ERN-RND.
Long-term maintenance of normalized cardiac function on ERT in infantile Pompe disease
Analysis of echocardiograms of 27 patients with infantile Pompe disease on enzyme replacement therapy (ERT) obtained during a median follow-up of 9.9 years (maximum 22 years) shows: a normalization of the left ventricular mass index after 1 year of ERT; the mean shortening fraction was within normal limits before ERT and remained so until 22 … [Read more]
Kennedy disease is at least four times more common
The search for CAG expansion in the AR gene that encodes the androgen receptor using the ExpansionHunter computer tool (a “expansion tracker”) in the genomes of 74,277 unrelated individuals shows a mutation frequency of 1/3,182 X chromosomes. Based on this mutation frequency in the general population, the calculation of the prevalence of Kennedy’s disease increases … [Read more]
ERN EURO-NMD webinar, 27th Apr. – Dr. Nicole B.M. Voet (The Netherlands)
Fatigue in Neuromuscular Disorders 27th April 2023 at 16:00 Paris Time Dr. Nicole B.M. Voet (Radboud University Medical Center, the Netherlands) Registration: https://zoom.us/webinar/register/WN_CsaIEW5SQxyBoNKC5sYwbA Organised by EURO-NMD in collaboration with ERN-RND.
Treated myasthenia can still cause significant difficulties in everyday life
The international MyRealWorldMG study collects real-life data from adults with autoimmune myasthenia undergoing treatment. Each month, they answer different patient-reported outcome measures (PROM), specific or not to myasthenia: EQ-5D-5L, MG-ADL, MG-QoL-15r… Preliminary data from the first 834 participants show that: the results of the different PROMs are consistent and show a significant impact of the … [Read more]
Distal Udd titinopathy: a 15-year natural history
A Finnish retrospective study included data from 137 individuals with distal dominant myopathy, linked to the FINmaj mutation in the TTN gene, followed for 15 years. The results show that: the first symptoms appeared before 55 years of age in 109 of them (79.5%) (including five before 35 years of age) and after 55 years … [Read more]
