Archive | Clinical RSS feed for this section

Early Access Program for Nusinersen

Early Access Program for Nusinersen   There has been a lot of activity in the clinical trial space for the treatment of Spinal Muscular Atrophy (SMA) over the last two years, and Nusinersen, has been identified as the first effective drug to treat SMA Type 1.   Developed in California, Nusinersen (know in the USA […]

Read full story Comments are closed

Lifeline for Pompe disease patients

RCH clinicians have worked with the Australian Pompe Association, drug company Genzyme and the Federal government to achieve government-subsidised treatment for late-onset Pompe disease. 12-year-old patient Christian Rivera received his first infusion at the RCH last week. The federal government has listed the only registered treatment for Pompe disease, Myozyme (alglucosidase alfa), on the Life […]

Read full story Comments are closed

Call for patients with a syndrome of cerebellar ataxia with prominent motor and sensory neuropathy and chronic cough

Search for more families: potential new disease gene identified. We are conducting genetic analyses on the following family with a Syndrome of cerebellar ataxia with prominent motor and sensory neuropathy and chronic cough, and are searching for any similar families to help confirm our research findings. Do you know of a patient or family with […]

Read full story Comments are closed

Congenital muscular dystrophy outcome measures

The 173rd ENMC/TREAT-NMD workshop on congenital muscular dystrophy (CMD) outcome measures is the 9th CMD workshop, beginning in 1993 with the establishment of a CMD consortium. The workshop brought together 22 clinicians and experts from five countries to advance the implementation of suitable clinical outcome measures and endpoints specific for the CMDs to advance CMD clinical trial readiness. The CMDs […]

Read full story Comments are closed