UCLH and UCL experts are at the forefront of work to improve care for inherited disorders called leukodystrophies.
These rare neurological conditions mainly affect the white matter in the brain and spinal cord – for this reason they are often referred to as Inherited White Matter Disorders (IWMDs).
Although rare, IWMDs cause significant disability to those affected by them.
The disorders are almost always degenerative, and cause problems such as impaired walking, problems with vision and speech, and loss of memory and thinking skills. Initially thought of as childhood diseases, IWMDs are increasingly identified in adults.
A team at the National Hospital for Neurology and Neurosurgery (NHNN) at UCLH is working to provide early diagnosis and the best possible monitoring and case for patients with IWMDs – or suspected IWMDs.
The NHNN does this via a highly specialist service hosted in Queen Square: the Inherited White Matter Disorders (IWMD) Diagnostic and Management Service was commissioned by NHS England as the lead service of its kind in the country. It is supported by Alex, The Leukodystrophy Charity (Alex TLC).
The service is made up of a team of specialists including consultants in neurology, metabolics, clinical genetics and neuroradiology, a neurology nurse, neuropsychologist, and charity representation via Alex TLC.
The team offers patients medication where needed, but also offers advice to patients on managing their condition and any related health conditions, as well as advice around life planning. The team advises patients based on the specific genetics which underly their condition.
The team also supports neurologists across the country provide care for patients with IWMDs – meaning most patients can be seen in their local area.
With 400 patients in touch with the service at any given time, the NHNN team is involved in a number of research studies.
This research aims to:
- understand IWMDs better and how they progress
- identify the genes that lie behind IWMDs and how different genes lead to different patient presentations and experiences
- develop new drug treatments for IWMDs.
One treatment trial in progress at UCLH and UCL is called Ignite which is looking at a drug for an IWMD called CSF1R-ALSP. Another trial called ION373-CS1 is evaluating a drug for an IWMD called Alexander disease.
The pharmaceutical companies Vigil Neuroscience and Ionis are the sponsors of these trials respectively.
Excitingly, early results from Ignite indicate that the drug may reduce the severity of brain injury in patients with CSF1R-ALSP. The trial found that a marker of brain injury – called neurofilament – went down after treatment with the drug.
And through natural history studies in which people with IWMDs are observed over time, the team has been able to understand which measures or markers of disease are most important, and how these measures can change over time. This understanding helps researchers know what changes to look for in patients when trialing new treatments.
These trial results represent steps forward in understanding and treatment that experts hope to build upon in coming years.
Dr David Lynch, NHNN consultant neurologist who is leading the VIGIL study at UCLH, said: “Despite their importance, there is still a lot we don’t know about inherited white matter disorders. However, we are now beginning to make real progress in our understanding of this rare group of conditions, which we hope will translate into improvements in care.”
Professor Jeremy Chataway, consultant neurologist at NHNN who is leading the IONIS study at UCLH, said: “Although rare, inherited white matter disorders cause significant disability to those affected by them. Our team is committed to providing patients with excellent clinical care as well as groundbreaking research that one day will hopefully lead to the first treatments for this group of progressive neurological conditions.”
