Genetic conditions
Explore our latest news, features and CME resources on this topic, relevant to general practice.
Regulatory Alerts, Genetic conditions, Musculoskeletal conditions, Neurological conditions, Neurology
New treatment for spinal muscular atrophy recommended
Risdiplam is recommended in NICE draft guidance as part of a managed access agreement.
AWMSG recommends treatment for refractory partial-onset seizures associated with tuberous sclerosis complex
Everolimus (Votubia®) is recommended as an option for use within NHS Wales.
Webinar: SMA in infants – a new era for management
This webinar, featuring an expert panel of speakers, aims to help healthcare professionals to understand what spinal muscular atrophy (SMA) is, how it presents, how to treat it, and why early detection, diagnosis and treatment are essential to children's outcomes.
Gene therapy for rare genetic neurodegenerative disorder in children not recommended in draft guidance
NICE draft draft guidance does not recommend gene therapy OTL-200 for metachromatic leukodystrophy in children, but NICE says it would welcome further discussions between NHS England and the company making the treatment to resolve the uncertainties highlighted by the committee.
Regulatory Alerts, Genetic conditions, Musculoskeletal conditions, Neurological conditions, Neurology
Onasemnogene abeparvovec recommended for spinal muscular atrophy
NICE has published final draft guidance recommending the treatment and final guidance is expected in July.
NICE announces more people eligible for nusinersen following review of Managed Access Agreement
More people with the rare genetic disorder spinal muscular atrophy (SMA) are to benefit from the treatment, says NICE.
Wilson's disease
Author: Louise Newson, general practitioner, Birmingham. Reviewed by Luke Koupparis, general practitioner, Bristol.