As an organisation supporting those with a diagnosis of leukodystrophy, we know how difficult it can be to access good reliable information.
On this page you will find clinical guidelines and professional resources to help you manage patients with leukodystrophies.
Our Support Services Team are available to help you support families affected by leukodystrophies.
All the information we produce has been checked by specialists in the field of leukodystrophy so you can be assured our information is accurate and from reliable sources.
An important role for the charity is to raise awareness of leukodystrophy within the medical community. We do this by having a presence at conferences and presenting about the condition and our charity.
Are there any future conferences you think we should attend? Please email info@alextlc.org
We understand the importance of increasing awareness of rare disease within medical students and professionals. Our Director of Support, Karen Harrison, has previously presented to MSc students, at Medics 4 Rare Diseases events and to neurological professionals.
If you would like for us to present about leukodystrophy, email info@alextlc.org
It is vital that accurate leukodystrophy information is available to individuals and their families. On our website our condition information is checked by medical leukodystrophy experts to ensure accuracy.
For this reason a charity we support HIFA (Healthcare Information For All) whose goal is to provide ‘universal access to reliable healthcare information’. To find out more: Alex TLC – HIFA
If you have any informational resources you believe would be beneficial to share with our community, please contact info@alextlc.org
Please find below professional resources to assist in the diagnosis and treatment of leukodystrophy patients. Please note some of this information will be specific to the country of origin.
The new NHS England IWMD Diagnostic and Management Service (all ages) strives to implement national standards of care for patients with an IWMD and improve the NHS’s understanding of care for these conditions. The registry will support and align with the new service, providing vital clinical data to direct the care and treatment of leukodystrophy patients and support new research.
To find out more, visit: NHS England Patient Service & Registry
The Queen Square Adult Leukodystrophy Group (QSALG), is a multidisciplinary group that accepts referrals from doctors throughout the UK regarding patients with undiagnosed leukodystrophy / leukoencephalopathy, with the goal of guiding those doctors in arranging appropriate investigations and making a diagnosis. The team consists of neuroradiologists, neurologists (from cognitive, neuroinflammatory and neurogenetic specialities), and a physician in adult inherited metabolic disease, with support from neurology trainees and administrative staff. A monthly meeting is held to discuss new referrals and view brain scans and other results – with a comprehensive written report sent to each referring doctor. A bi-annual leukodystrophy outpatient clinic is also held at Queen Square at which patients may be reviewed in person if required.
The ERN-RND is a European Reference Network established by the EU to support patients and families affected by rare neurological diseases (RND). It is a useful resource for professional development, clinical support and advice.
To find out more, visit: ERN-RND website
The Leukodystrophy Care Network (LCN) was established by Hunter’s Hope Foundation as a network of medical providers, NBS labs, hospitals, Leukodystrophy organizations and affected families. They provide assistance for medical experts in the LCN and the patient’s local medical teams and hope to improve the quality of life for leukodystrophy patients through medical care standards and specialised centres.
To find out more, visit: LCN Organization
GeneReviews is an international resource available for clinicians with medical information on inherited conditions. It covers diagnosis, clinical characteristics, management, and genetic counselling for patients and their families. The information is written by experts on the condition the chapter covers.
To find out more, visit: GeneReviews
The Global Leukodystrophy Initiative (GLIA) consensus recommendations for an approach to clinical diagnosis of leukodystrophies (LD) and genetic leukoencephalopathies (gLE).
To view the guidelines: A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
This brochure created by ULF details key information to know about leukodystrophy. These include fast facts, diagnostic tools, newborn screening and potential treatments.
To view the brochure, visit: Leukodystrophy brochure ULF
This leaflet created by Ariadne Labs’ Serious Illness Care Program was designed to help guide conversations with patients and their important people about their condition, what they would like to know about it, their values, goals and more.
To view this leaflet, visit: Serious-Illness-Conversation-Guide.2023-05-18.pdf
GPs across England to take ‘3 strikes and rethink approach’ after 3 appointments – as Jess’s Rule rolled out nationwide to prevent avoidable deaths.
Designed in collaboration with the chair of Royal College of General Practitioners (RCGP) and NHS England, Jess’s Rule will help to catch serious conditions earlier and support GPs with guidelines that bolster their clinical judgement, while encouraging them to reflect, review and rethink if they are uncertain about a patient’s condition.
We know the difficulties our community face in getting GP’s to take their symptoms seriously and believe this new initiative will help.
To find out more, visit: Jessica Brady’s legacy inspires new life-saving GP safety rule – GOV.UK
Information on AARS2-Related Disorder including management guidelines written by neurodegenerative disease experts.
To view the guidelines: AARS2-Related Disorder – GeneReviews® – NCBI Bookshelf
The European Reference Network for Rare Neurological Diseases (ERN-RND) has endorsed guidelines for X-ALD to help guide the diagnosis and recommends they are used.
To view the guidelines: International recommendations for the diagnosis and management of patients with Adrenoleukodystrophy
Team ALD are from the Amsterdam UMC in the Netherlands. Their mission consists of three key parts: unravelling the mysteries of X-linked adrenoleukodystrophy (ALD), developing effective treatments, and expanding newborn screening worldwide. Their strength lies in their comprehensive, translational approach. We don’t just study ALD; we tackle it from every angle.
To find out more, visit: Team ALD – Pioneering ALD research
International modified Delphi study to create an ALD MRI protocol for screening, lesion monitoring, and MRI sequences to be prioritised for future research.
To view the protocol, visit: Use of Brain MRI in Cerebral Adrenoleukodystrophy
AxDimaging is an educational platform on Alexander Disease with expert medical insights. The platform offers educational content and videos, quizzes, and case studies.
To find out more, visit: Home page | AxDimaging
The NHS clinical commissioning policy recommends that Allo-HSCT is available as a routinely commissioned treatment option for adult patients with C-ALD within the criteria set out in this document.
To view the policy: Allogeneic haematopoietic stem cell transplant for patients with X-linked cerebral adrenoleukodystrophy (adults)
CTX experts basis for standardisation of care.
To view the guidelines: Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study.
Note: No newborn screening for CTX is currently available and a standardised approach to diagnosis, treatment and management of patients is not yet established.
The MLD initiative (MLDi) is a European disease registry for metachromatic leukodystrophy (MLD) and a multi-stakeholder collaboration. Their aim is to improve disease management of metachromatic leukodystrophy through an international disease registry and multistakeholder collaboration. The MLD initiative collects patient data for research and healthcare purposes. Researching rare diseases is difficult because of small patient numbers. Therefore, clustering data in a European database is needed. The MLDi initiates, coordinates, and manages various projects focused on improving the care for MLD.
To find out more, visit: MLD Initiative website
MLD experts created consensus-based recommendations on clinical management for newborn screening in metachromatic leukodystrophy. Patient advocates were involved as well.
To view the guidelines, visit: Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
The NHS Highly Specialised Services (HSS) for rare mitochondrial disorders provide a comprehensive high quality service for this rare group of disorders, with centres in London, Newcastle and Oxford. Each centre has international reputation for clinical care and research in Mitochondrial Disorders, and has an expert team of doctors and other healthcare professionals.
To find out more, visit: NHS – Rare Mitochondrial Disorders Service
Resources available for individuals affected by Vanishing White Matter Disorder focused on consensus recommendations for diagnosis and management of the condition.
This includes:
a patient management card developed by VWM consortium
expert recommendations research article by Dr Van Voorst et al
