Our BRC research programmes are already demonstrating clinical impact and benefit to patients treated at GOSH.
- Studies in children with Duchenne muscular dystrophy (DMD) show that gene therapy restores the missing DMD-causing dystrophin protein.This and other gene therapy treatments have the potential to work for at least 70 per cent of DMD patients.
- Our Non-Invasive Prenatal Diagnosis (NIPD) programme is developing standards to enable families at high risk of genetic conditions to have access to safer prenatal diagnostic tests avoiding, for example, the risks of miscarriage.This approach makes it possible to offer prenatal diagnosis for certain genetic problems using a simple blood test.
- A collaboration between the North East Thames Regional Genetics Service laboratory based at GOSH and the GOSH Immunology laboratory has resulted in the development of a genetic sequencing panel for Primary Immune Deficiency (PID). PID causes an impaired immune system in 1 in 500 people in the UK. This panel is faster and more cost effective than current gene screening methods and is now being transferred into routine diagnostic use. To date, 19 previously undiagnosed patients now have a confirmed molecular diagnosis, enabling optimal therapy as well as family screening and counselling for affected families.
- A clinical study coordinated by GOSH and UCL researchers Professor Henry Houlden and Professor Francesco Muntoni has shown encouraging treatment results for Brown-Vialetto-Van Laere syndrome, a rare neuromuscular disorder that causes the breakdown of muscle and nerve tissue. Genetic sequencing has proven instrumental in the identification of the defective gene in this disease and points to the possibility that riboflavin supplementation could provide therapeutic benefit for patients with the disorder.
- Safe and efficient delivery of gene therapies to the brain has long been a major problem because the blood-brain barrier is very effective at allowing only specific molecules from the blood and into the brain. Professor Stephen Hart and his colleagues at UCL Institute of Child Health have developed a new, specially coated form of very small synthetic particle for gene delivery called an anionic nanoparticle. This nanoparticle is delivered to the brain by a precise form of injection through the skull using a very narrow needle, a procedure called convection enhanced delivery. A single injection of the nanoparticle achieves widespread dispersal for improved gene delivery. This represents real potential for the development of treatments for a wide variety of serious neurological diseases, ranging from neurodegenerative diseases to brain tumours.
- UCL Institute of Child Health researchers have discovered two very sensitive biomarkers that can predict presymptomatic kidney disease in a patient’s urine. These biomarkers have been developed into a rapid, multiplexed urine test by GOSH chemical pathology. The GOSH UCL BRC-supported GOSomics facility has supported this work led by Dr Kevin Mills.There is great potential to use this non-invasive test to look at many other types of kidney disease, including as a non-invasive test for kidney rejection in patients that have undergone transplantation and who currently require serial kidney biopsies. Other benefits to patients include the early diagnosis of kidney disease and the ability to monitor enzyme replacement therapy in Fabry patients.
- On 14 February 2014, Vimizim (elosulfase alfa) received the first ever approval from the U.S. Food and Drug Administration (FDA) as a treatment for Morquio A syndrome. Morquio A syndrome is a rare, autosomal recessive lysosomal storage disease caused by a deficiency in N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The condition causes problems with bone development, growth and mobility. BioMarin sent sincerest thanks to GOSH, its patients and their families for participation in the clinical development and approval of VIMIZIM, enabling treatment delivery to many patients. The lead clinicians at GOSH were Drs Ashok Vellodi and Maureen Cleary. GOSH recruited two patients to the trial, altogether the UK contributed 27 patients to the trial, and globally 176 patients participated in the trial.