Blog Archives
Treatments and diagnosis for rare diseases: crucial issues
The availability of treatments and the end of diagnostic delays are major challenges for people with rare diseases. AFM-Telethon and the actors of the Rare Disease Platform are mobilising and calling on the public authorities to demand a 4th french National Plan for Rare Diseases that takes these issues into account. Despite the real progress … [Read more]
Rare diseases: AFM-Telethon calls for the creation of a public fund to ensure access to treatment
To mark International Rare Disease Day on 28 February, AFM-Telethon is advocating for the creation of a public intervention and innovation fund in France for the treatment of ultra-rare diseases with no prospect of commercial profitability. The aim: to guarantee access to treatment for all. 95% of rare diseases have no treatment. And while innovative … [Read more]
An exploration of the role of second-line treatments in resistant forms of juvenile dermatomyositis
Conventional treatments for juvenile dermatomyositis (corticoids, methotrexate, immunoglobulins) are sometimes ineffective and/or poorly tolerated. More recent molecules can then be proposed. A survey of 121 health professionals, mostly paediatricians and rheumatologists practising in the United States, revealed the following observations half of the prescribers waited an average of four months before considering a second-line treatment, … [Read more]
A Canadian observation of congenital myasthenic syndrome with mutations in the SLC5A7 gene
To date, 34 genes are involved in congenital myasthenic syndromes (CMS), including SLC5A7. The latter encodes CHT1, a protein responsible at the presynaptic level for reuptake of acetylcholine molecules. Canadian researchers report the observation of an 11 year old patient with : the clinical picture was one of hypotonia and global developmental delay after the … [Read more]
Long-term outcome of twelve women with early-onset dystrophinopathy in the Netherlands
The first signs of dystrophinopathy (motor and/or language delay, feeding difficulties, exercise intolerance, fatigue and myalgias…) appeared in these women from birth to the age of 12. The diagnosis was made within 6 months to 23 years. The medical assessment of eleven of them (the twelfth, non-ambulatory, having died of terminal heart failure at the … [Read more]
Towards an extension of the phenotypic range of variants linked to the PSAT1 gene?
Mutations identified in the PSAT1 gene were previously known to cause abnormalities, often severe, of the central nervous system. Beijing researchers report the original case of two unrelated patients with PSAT1 gene mutations and a particular phenotype: the picture associated sensitivo-motor disorders compatible with Charcot-Marie-Tooth disease (CMT) and cutaneous ichthyosis, CMT was clearly of axonal … [Read more]
Efgartigimod passes phase III and early access in Myasthenia Gravis
A disease of the neuromuscular junction, Myasthenia Gravis benefits from relatively intense therapeutic research for a rare disease with more than 60 clinical trials underway or in preparation registered on the ClinicalTrials website at the beginning of February 2023. Among the therapeutic avenues under investigation is the promising family of antibodies directed against neonatal Fc … [Read more]
Description of a second form of DNAJB4-related myopathy
Two months after the publication of a new DNAJB4-related myopathy in four patients, a Japanese-American study describes six more patients with another, as yet unreported, form. The study of patients with this new form reveals: a heterozygous mutation (c.270 T > A) of the DNAJB4 gene ; an autosomal dominant mode of transmission; an onset … [Read more]
Publication of the first prospective natural history study of FOP
An international study carried out in eight expert centres (including one in France) for fibrodysplasia ossificans progressiva (FOP) has clarified the natural history of the disease and its outbreaks of heterotopic ossifications. Of the 114 initial participants (nearly 15% of known cases), aged 4 to 56 years, 33 completed the study with a mean follow-up … [Read more]
Scoliosis in children with SMA type I receiving nusinersen
A Canadian team from Toronto reports the development of scoliosis in seven infants with SMA type I (homozygous deletion of SMN1 with 2 copies of SMN2) treated with nusinersen before the age of 6 months and followed for a median of 21 months (range 10-57 months). Nusinersen resulted in an improvement in the CHOP-INTEND global … [Read more]
