Glioblastoma is the worst form of primary brain tumour, and survival is already poor. Treatment is usually palliative with debulking surgery and radiotherapy. Dexamethasone, a corticosteroid, effectively reduces the swelling or oedema that the tumour evokes around it. Corticosteroids are therefore often the first treatment for glioblastoma because they almost immediately improve symptoms such as reduced consciousness, headache, and visual blurring.
It is, therefore, surprising when a study suggests that corticosteroids cause harm. But this is no ordinary study; it is a classic bench-to-bedside research which looked at patients with glioblastoma, and then devised a mouse model to study the real impact of steroids on the tumour.
The authors show that a ‘ dexamethasone-associated gene expression signature correlated with shorter survival’. They pass the verdict that corticosteroids are detrimental to survival and urge caution when prescribing dexamethasone.
Duchenne muscular dystrophy (DMD) is the most familiar of the inherited muscle diseases called muscular dystrophies. DMD is life limiting, but advances in care are enabling children born with this disease to survive well into adulthood. The disease is named after the French neurologist Guillaume Duchenne.
The foundation of long survival in DMD is close supervision of breathing and heart functions. DMD however affects much more than these vital functions, and it remains a challenging disease for families and management teams. Thankfully researchers are not resting on their laurels, working ever hard on heart-warming advances. Here are three.
Published in the journal Neurology, this document shows how steroids help to improve muscle strength, maintain breathing functions,stabilise ambulation,prevent spinal deterioration (scoliosis), and delay onset of heart disease.
Is there more one could hope for? Yes, a lot more when it comes to genetic diseases.
Idebenone is not new to neurologists. Researchers at Newcastle have been investigating its vision-preserving effect in the mitochondrial disease called Leber’s hereditary optic neuropathy (LHON). Idebenone is thought to improve the activity of mitochondria, the energy-producing component of all cells. Idebenone has also been investigated in other neurological disorders such as Friedreich’s ataxia.
Perhaps as an indication of its growing importance, researchers have now looked at the effect of Idebenone in people with DMD, and they did this in two separate trials. DELPHI is published in the journal Neuromuscular Disorders as Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy. The authors reported benefit in both cardiac and respiratory function.
The researchers used CRISPR technology to delete exon 23 from the Duchenne gene on the X chromosome. Exon 23 is the site of the fault that makes DMD patients unable to produce the muscle protein called dystrophin. By splicing this exon out, the researchers demonstrated an increase in the production of dystrophin. And this increase was significant enough to lead to an improvement in muscle strength.