Research projects funded by ELA in 2014


Written on Tuesday 27 January 2015

The ELA Foundation will fund 13 research projets regarding leukodystrophies in 2014 for a budget of 977 626 Euros: 7 new projects for young investigators for 504 581 Euros, 6 renewed projects for a total of 473 045 Euros. In addition, ELA also funded this year: the biobank project for 200 000 Euros. the MD1003 […]

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Register to the 2015 ELA Families / Scientists Meeting


Written on Thursday 22 January 2015

Each year, the ELA association organizes a meeting for patients and their families. International scientists will attend the meeting where they will present the latest scientific and medical breakthroughs and answer the questions of patients and families. This annual event is a unique opportunity for the patients and their families to gain knowledge and interact […]

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Join us for the 3rd ELA Scientific Congress


Written on Thursday 18 December 2014

We are pleased to announce the organization of the 3rd ELA Scientific Congress entitled “Advances in molecular pathogenesis, diagnosis and management of the leukodystrophies” from June 24 to 26, 2015 in Paris, France. Outstanding speakers with expertise in leukodystrophies, myelin biology, neuroimaging, stem cell research and gene therapy will participate to the congress to share […]

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Launch of the MD1003 trial in adrenomyeloneuropathy in France and Spain


Written on Monday 24 November 2014

We are happy to announce the launch in France and Spain of the clinical trial testing the MD1003 drug developed by MedDay Pharmaceuticals in patients with adrenomyeloneuropathy (AMN). Authorizations for the investigational center in Germany are awaited. The trial, funded by ELA for 800.000 euros, will gather 60 AMN men with no cerebral involvement. Below […]

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Characteristics of Krabbe disease in adults


Written on Monday 24 November 2014

Krabbe disease is a leukodystrophy where the severe form usually begins in early infancy, during the first year of life, and progresses rapidly. It causes demyelination of the central and peripheral nervous systems. The aim of this study was to describe the clinical, radiological and genetic characteristics of Krabbe disease in adult patients for whom […]

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Study of cerebral metabolic impairment in metachromatic leukodystrophy


Written on Tuesday 21 October 2014

Metachromatic leukodystrophy (MLD) is a neurodegenerative metabolic disease caused by a deficiency in a protein named arylsulfatase A.  The defect leads to the accumulation of sulfatides in the nervous system. The aim of this study was to measure brain metabolic impairment in 4 children suffering from the late infantile form of the disease, with the […]

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A derivative of vitamin E aids in the repair of myelin in multiple sclerosis


Written on Wednesday 15 October 2014

Multiple sclerosis (MS) is an inflammatory disease of the central nervous system (CNS) that causes demyelination and axonal loss, resulting in a severe neurological handicap. Current treatments of MS are mainly aimed towards neuro-inflammation and have a minor impact on myelin repair in the CNS. A treatment that stimulates remyelination would represent a major advance […]

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Mesenchymal stromal cell transplant induces re-myelination in a multiple sclerosis model


Written on Monday 29 September 2014

Demyelinating diseases such as leukodystrophies and multiple sclerosis are neurodegenerative diseases characterized by a progressive loss of myelin and cells responsible for its synthesis, the oligodendrocytes. Upon demyelination, the cells giving rise to oligodendrocytes are activated and can migrate towards the injured zone where they change into oligodendrocytes. Unfortunately, when demyelination becomes chronic, the cells […]

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Disruption of neovascularization in Krabbe disease


Written on Tuesday 23 September 2014

Krabbe disease, also known as globoid cell leukodystrophy, is a neurologic illness caused by the lack of a protein called β-galactosylceramidase, which leads to the abnormal accumulation of a toxic component, psychosine, in the central nervous system (brain and spinal cord). This disease is characterized by an alteration in the cells that synthesize myelin, known […]

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Download the conference report of the 2014 ELA Families / Scientists meeting


Written on Wednesday 23 July 2014

The 2014 ELA Families/Scientists meeting gathered 360 participants in Paris, among them 27 international scientists with expertise in leukodystrophies and myelin diseases. During the 8 diseases’ workshops and the plenary session organized, scientists presented the results of their research work in lay language and answered questions from patients and their families.       Download […]

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Neuronal inflammation induced in a leukomalacia model disrupts the development of myelin cells


Written on Wednesday 23 July 2014

Periventricular leukomalacia is a major cause of cerebral palsy in premature babies. One of the characteristics of this disease is the activation of microglial cells, the cells of the central nervous system implicated in its immune defence.  The occurrence of this inflammatory process in premature infants has long-term consequences on the maturation of the cells […]

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Glutathione imbalance in patients suffering from adrenoleukodystrophy


Written on Wednesday 16 July 2014

X-linked adrenoleukodystrophy (ALD) is an inherited genetic disease provoked by a mutation in the ABCD1 gene on the X chromosome, which leads to the accumulation of very long chain fatty acids in the plasma and tissues. Recent data show an involvement of oxidative stress in the onset of ALD. Glutathione, a small protein, plays a […]

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Pioglitazone halts nerve degeneration in mice with adrenoleukodystrophy


Written on Wednesday 16 July 2014

Adrenoleukodystrophy is a neurometabolic disease caused by a mutation in the gene encoding for the ABCD1 peroxisomal transporter of very long chain fatty acids. The peroxisome is the component of the cell whose role is to degrade these fatty acids.   Mice mutated in the ABCD1 gene show a late degeneration of their nerve processes, […]

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Screening for adrenoleukodystrophy in adult men suffering from Addison’s disease


Written on Tuesday 15 July 2014

During chronic insufficiency of the adrenal glands, or Addison’s disease, these glands are incapable of producing a certain type of hormones indispensable for life, the corticosteroids. This hormonal disease is characterized by extreme tiredness, muscle stiffness, arterial hypotension and bronze colouration of the skin. It can be controlled by a daily hormonal treatment, based on […]

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Disruption of mitochondrial function in adrenoleukodystrophy


Written on Tuesday 15 July 2014

ALD is an inherited neurodegenerative disease characterized by demyelination in the brain and/or axon injury in the spinal cord, adrenal insufficiency and accumulation of very long chain fatty acids (VLCFAs) in plasma and tissues. ALD is caused by the dysfunction of the ABCD1 gene that encodes a VLCFA transporter in the peroxisome, a component of […]

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Launch of a clinical trial for adult patients suffering from adrenomyeloneuropathy


Written on Friday 4 July 2014

Thanks to the generosity of our donors, we are happy to announce the launch of a new clinical trial completely funded by ELA for 800,000 Euros to evaluate the effects of a new molecule on patients suffering from adrenomyeloneuropathy (AMN). Dr Frederic Sedel’s research work to which ELA contributed led to the identification of the […]

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Download the scientific report of the 2013 UK Scientific Workshop on Krabbe Disease


Written on Tuesday 17 June 2014

Last October was held the UK Scientific Workshop on Krabbe Disease organized by Save Babies Through Screening Foundation UK and gathering several international experts on Krabbe Disease. You can download the report of the meeting here         The following topics were covered during the meeting: A Family Perspective of Krabbe disease by Ms […]

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POLD and HDLS diseases form a single disease entity


Written on Thursday 12 June 2014

Pigmented orthochromatic leukodystrophy (or POLD) and hereditary diffuse leukoencephalopathy with axonal spheroids (or HDLS) are rare neurodegenerative diseases characterised by abnormalities of the brain white matter, a loss of myelin and a swelling of axons. Although considered as two distinct illnesses, their pathological and clinical characteristics suggest the opposite. However, no genetic or mechanistic link […]

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ALD Connect, a co-operative network for adrenoleukodystrophy


Written on Friday 6 June 2014

Arising from Dr. Florian Eichler’s initiative (Massachussetts General Hospital, Boston, MA, USA), ALD Connect is a co-operative network for adrenoleukodystrophy (ALD). It brings together scientific experts, doctors, patient associations and pharmaceutical laboratories. Founded in January 2013, its mission is to improve patient care and health by promoting scientific knowledge and raising awareness/educating health professionals and […]

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A clinical trial: the role of L-DOPA in the treatment of movement disorders in patients suffering from leukodystrophy


Written on Thursday 5 June 2014

At the instigation of ELA Italy and its president Silvano Vona, a clinical trial to test the effects of L-DOPA on patients suffering from leukodystrophies is currently underway in Italy. This trial is based on results observed for Edoardo, Mr Vona’s son, who suffers from metachromatic leukodystrophy. In contrast to the clinical trials generally proposed […]

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