https://www.gosh.nhs.uk/our-research/our-research-infrastructure/nihr-great-ormond-street-hospital-brc/brc-news/biomarin-release-results-cln2-trial-being-carried-out-gosh/
Biomarin release results from CLN2 trial being carried out at GOSH
28 Jun 2016, 2:05 p.m.
Biomarin have released positive 48-week results from a clinical trial of cerliponase alfa treatment for CLN2 disease.
CLN2 disease is a form of Batten disease, a fatal neurodegenerative disease. It is the result of mutations in the TPP1/CLN2 gene causing deficient activity of the tripeptidyl peptidase 1 enzyme (TPP1). Cerliponase alfa treatment is a recombinant form of TPP1 and is designed to restore TPP1 enzyme activity.
In this Phase I/II trial, cerliponase alfa treatment was administered directly into the brain ventricles via intracerebroventricular infusions. At one year, the results have shown an 80 per cent reduction in the progression of the disease relating to decline in motor and language functioning, when compared to the natural progression of the disease. Furthermore, treatment was also found to reduce cortical grey matter loss.Biomarin plans to submit marketing applications and is planning to implement an early access programme to enable additional CLN2 patients to have access to this treatment.
The Great Ormond Street Hospital (GOSH) involvement in the trial was led by Novel Therapies Deputy Theme Lead, Professor Paul Gissen.
New study finds that nasal cells protect against Covid-19 in children
New research shows that children are less likely than adults to develop severe COVID because cells in their nose are better at fighting off the virus.
New plan announced to get more children access to gene therapy treatments
Great Ormond Street Hospital (GOSH) has announced plans to revolutionise how children living with a rare disease can gain access to life-changing treatments.
First-of-its-kind study into the Ketogenic diet
A ketogenic diet, which is low in carbohydrates and high in fat, shows promise as an alternative treatment option for infants with drug-resistant epilepsy.
Raising awareness on Rare Disease Day
To celebrate Rare Disease Day we invited patients and their families to try out 13 different hands-on and interactive fun and educational science and research activities for children and adults.