Article reviewed by Prof. Raul Estevez

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a member of the family of leukodystrophies. It is an extremely rare genetic disease. Its frequency is less than 1 per 1,000,000 births, but the disease is more common in certain populations with high consanguinity. It is an orphan disease, which means that there is currently no treatment.

Alexander disease is a rare genetic disorder in the family of demyelinating leukodystrophies. Its prevalence across the world is not exactly known, but has been estimated at 1 in 2,700,000 in Japan. This neurological disease is most often diagnosed in early childhood, but juvenile and adult forms also exist. Symptoms include mental retardation, epilepsy, and muscle stiffness, and their progression leads to the patient's death. It is characterised by a degeneration of the white matter and the formation of Rosenthal fibres.

Article reviewed by Prof. Nicole Wolf

Pelizaeus-Merzbacher disease (PMD) is a rare genetic disorder in the family of leukodystrophies. Its frequency is 1 per 100,000 births. It is one of the hypomyelinating leukodystrophies, white matter diseases characterised by a permanent deficit of myelin in the brain.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate (or LTBL) is an extremely rare genetic disorder in the family of leukodystrophies. Its prevalence is less than one in 1,000,000. It is one of the hypomyelinating leukodystrophies, those white matter pathologies characterised by a permanent deficit of myelin in the brain.

Article reviewed by Prof. Nicole Wolf

CACH syndrome stands for Childhood Ataxia with Central Nervous System Hypomyelination. Today, the name leukoencephalopathy with vanishing white matter (VWM) is preferred. It is a genetic disease of the leukodystrophy family and it is one of the most common leukodystrophies, with a prevalence of about 1 in 80,000. It is one of the hypomyelinating leukodystrophies secondary to astrocyte damage. VWM disease displays a progressive degradation of the white matter in the brain.

Krabbe disease is a rare hereditary disease that affects the white matter of the central (brain and spinal cord) and peripheral (nerves of the lower and upper limbs) nervous systems.

Metachromatic Leukodystrophy (MLD) is a member of the lysosomal leukodystrophy family. It's a rare autosomal recessive genetic disorder. Its frequency is 1 per 45,000 births. It can begin in childhood, adolescence or adulthood and leads to severe neurological dysfunction affecting motor and cognitive functions that can lead to death.

X-linked adrenoleukodystrophy (ALD) is a worldwide genetic disease, rare and serious, of the family of leukodystrophies. Its incidence of 1 for 17 000 births makes it, however, the most common type of leukodystrophy. It is a metabolic disease which affect the brain, the bone marrow and peripheral nerves, but also the adrenal (and the testis) as part of its name « adreno- » refers to.

From: Dr. Adeline Vanderver
Program Director of the Leucodystrophy Center of Excellence - Children’s Hospital of Philadelphia, Philadelphia, PA 19104 – USA

Aicardi Goutieres Syndrome (AGS) is a genetically heterogeneous disorder that can be caused by mutations in a series of genes with a final endpoint of upregulation of the IFN pathway and the innate immune system.

In this article we will first describe the procedures of bone marrow transplant and gene therapy, before describing the applications and results obtained in leukodystrophies.

The international success of Leuconnect makes the platform grow.

Dutch is now added to the five languages already offered.

Clinical studies are multiplying on Leuconnect and the investigators involved show their satisfaction by renewing the conduct of their studies on the platform. Their experiences, as well as those of families, feed the evolution of the tool to better meet needs.

ELA International keeps the goal to providing access to online clinical studies to as many patients as possible.

Now the platform is accessible to patients directly in Dutch and investigators can also conduct their studies in this language.

Was ist SMART-ALD?

Die SMART-ALD-Studie hat das Ziel, das körperliche und psychische Wohlbefinden und die Lebensqualität von symptomatischen Frauen mit X-ALD durch ein neues, multidisziplinäres Behandlungsangebot langfristig zu verbessern. Mit dieser klinischen Studie möchten wir die Machbarkeit, Akzeptanz und Wirksamkeit einer neuen Lifestyle-Intervention als ein intensiviertes Versorgungsprogramm für Frauen mit X-ALD unter Verwendung von Video-Sprechstunden prüfen.

Launch of a study on the quality of life of women with X-ALD on Leuconnect

A study on the quality of life of women with X-linked adrenol-cholodystrophy opens in Spanish and Italian on Leuconnect. This study is an extension of a first version available in English, French and German. If you have not yet participated in this study and speak one of these two languages, you can apply for the study.

To better understand the impact of Cerebral Adrenocleucodystrophy CALD) on the quality of life of patients and their families

Adrenoleukodystrophy (ALD) is a rare metabolic disorder caused by mutations in the ABCD1 gene that lead to a toxic accumulation of very long-chain fatty acids (VLCFAs). It is an X-linked disease that mainly affects boys. About 40% of them will develop the cerebral form of the disease (CALD). Early diagnosis of CALD is essential to enable treatment to be administered before symptoms appear and the disease progresses.

Quality of life in women with X-ALD

X-linked Adrenoleukodystrophy (X-ALD) is a hereditary disease caused by mutations in the ABCD1 gene leading to disturbances in the metabolism of fatty acids. This results in an accumulation of very long chain fatty acids in the cells of the body causing damage to the central nervous system (white matter of the brain and spinal cord). The most common clinical form of X-ALD is adrenomyeloneuropathy (AMN), in which the symptoms usually first appear in early adulthood.

There are no studies in France on the burden of cerebral adrenoleukodystrophy (CALD) on the children affected and their families.

In partnership with ELA International, and accompanied by ARGO Santé, a health research and consulting firm, BlubirdBio is launching a study on the impact of the disease on boys with CALD.

Impact of MLD
Thank you for your interest in participating in the study entitled "Exploring the Burden of Disease and Quality of Life in people with Metachromatic Leukodystrophy (MLD) in the United States and Europe: A Descriptive Study".  This study is an international research programme that is being offered to the United States and some countries in Europe, including France. It is offered to parents of children with MLD or relatives of sick children to better understand the impact of the disease on patients and their families beyond the direct medical implications that it causes.

Your mobile phone number is required when you register on the Leuconnect platform.
It will allow you to receive your connection codes.

N.B.: Please make sure that you follow the format requested.

Because leukodystrophies are rare diseases, too few patients are involved in research for these diseases although they have often acquired a great knowledge of their pathology. For this, ELA France and ELA International have created LEUCONNECT, a platform to support clinical research.

New things on Leuconnect !
With the support of Fondation Roche, ELA created tutorial videos to help you with your registration on the website and with its use. Four videos are provided to help you navigate the platform.

Leuconnect is a platform created at the initiative of ELA families to enable leukodystrophy patients and their parents to form a virtual, voluntary cohort to advance leukodystrophy research by participating in clinical studies.

As a member of the Leuconnect e-cohort, you can easily access clinical trials and play a key role in research.
Accelerating research in the field of leukodystrophy is one of the major challenges facing the ELA association and the main objective of Leuconnect. Leuconnect supports the implementation of clinical trials by facilitating patient recruitment and providing access to open clinical trials on the platform. The patients registered in the cohort form a community that is available and motivated to participate in online studies.

Communicate with LEUCONNECT
In the previous issue of ELA info magazine, you discovered how to register to LEUCONNECT and participate in the e-cohort of patients. As a member of LEUCONNECT e-cohort, you can now communicate with other families concerned by leukodystrophies. With them, you are a community.
In this issue, you will learn how to communicate with LEUCONNECT.

In the previous issues of ELA Info, you have seen how to register to Leuconnect e-cohort and how to communicate using the secure messaging tool. Today, you will discover how to fill in your "patient record". It gathers a set of information concerning your pathology, its situation, its evolution. It allows you to monitor your disease.

ELA France and ELA International are launching Leuconnect, an online platform dedicated to help clinical research by facilitating recruitment of patients into studies and clinical trials, to help the acceleration of research on leukodystrophies in France and worldwide.