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High-dose Biotin Capsule Shows Promise in X-ALD

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14 mayo 2019

#AANAM – High-dose Biotin Capsule Shows Promise in X-ALD

by Patricia Inacio, PhD

MD1003, a high-dose biotin, rescued locomotor (movement) activity and halted axon (nerve fiber) degeneration in two mouse models of X-linked adrenoleukodystrophy (ALD), including one with more severe and early disease onset, a study shows.

The results were presented at the 2019 American Academy of Neurology (AAN) Annual Meeting (May 4-10), by Stéphane Fourcade, researcher at IDIBELL, Barcelona, Spain, in a poster titled “Beneficial Effects of High-dose Biotin (MD1003) in Models of X-linked adrenoleukodystrophy.”

Biotin is a form of vitamin B, and it plays an important role in energy production within cells. MD1003 is a highly concentrated oral formulation of biotin that acts on neurons’ metabolism to minimize the loss and promote the repair of myelin — the protective, fat-rich substance that wraps around axons. Myelin is progressively destroyed in diseases such as multiple sclerosis and ALD, causing disability.

In the study, researchers at IDIBELL and Medday Pharmaceuticals used two mouse models of X-ALD to investigate whether MD1003 can halt axon degeneration and locomotor deficits. The team also investigated the molecular mechanisms by which MD1003 may exert its effects.

Researchers used a mouse model generated by deleting the ABCD1 gene, which is the cause of X-ALD when mutated. ABCD2 is another gene with a very similar function to ABCD1 that, upon absence of ABCD1, may try to compensate for its effects.


As a result, to analyze the effects of MD1003 on locomotor behavior and axonal degeneration, researchers used another mouse model that was genetically modified to lack both ABCD1 and ABCD2 genes, called a double knockout (KO) mouse, known to have a more severe disease and earlier onset than the single ABCD1 KO mice.

Last Updated on Wednesday, 22 May 2019 09:08 Read more


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Important and exciting update for patients with AMN:

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

Ver el artículo en el link:





Last Updated on Monday, 01 July 2019 11:11

Newly discovered leukodystrophy in children: Potential cure

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The gene that causes the disease is called DEGS1 and its defect may be counteracted with fingolimod

Source: IDIBELL-Bellvitge Biomedical Research Institute

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Summary: Medical researchers have uncovered a novel disease of children affecting the brain white matter -- the myelin sheath --, leading to severe incapacity and death in some cases. These defects were corrected by a treatment with fingolimod, a drug in use for multiple sclerosis which interferes with this pathway.

Last Updated on Tuesday, 12 February 2019 16:56 Read more

CCMA/CIÈNCIA | Descoberta una varietat d'una malaltia genètica infantil i la seva cura potencial

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La leucodistròfia infantil provoca deficiències cognitives i motrius

Enllaç a la notícia original, Actualitzat 11/01/2019-18.37

Investigadors de l'IDIBELL han descobert una nova varietat de leucodistròfia infantil, una malaltia genètica greu. Al mateix temps, han aconseguit descobrir un fàrmac per a la seva cura potencial. L'estudi s'ha publicat a la revista "Journal of Clinical Investigation" i ha estat finançat per La Marató de TV3.

Per investigar la malaltia els investigadors han seqüenciat el genoma

Publicació a la "Journal of Clinical Investigation": pdf button


Last Updated on Thursday, 17 January 2019 11:28 Read more

Diario ABC Catalunya- Científicos españoles descubren un nuevo tipo de leucodistrofia infantil y su potencial cura

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Científicos españoles descubren un nuevo tipo de leucodistrofia infantil y su potencial cura

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10 enero 2019

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Equipo de investigadores del Idibell que han descubierto el gen causante de la enfermedad - idibell


Identifican el gen causante de la enfermedad y constatan que los efectos que provoca pueden «ser contrarestados» por un fármaco que se usa contra la esclerosis múltiple

El grupo de Enfermedades Neurometabólicas del Institut de Recerca Biomèdica de Bellvitge de Barcelona (Idibell) y del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), liderado por la doctora y profesora ICREA Aurora Pujol, ha descubierto una nueva leucodistrofia infantil, una enfermedad que afecta a la sustancia blanca del cerebro (mielina), y que lleva a una discapacidad grave y la muerte en algunos casos.

Mediante la secuenciación del exoma completo de 19 pacientes a nivel mundial, los científicos han descubierto que el gen que causa la enfermedad se llama DEGS1, una enzima del metabolismo de lípidos cuya función es transformar las dihidroceramidas en ceramidas, centro neurálgico para el funcionamiento cerebral, tal y como han publicado en la revista «Journal of Clinical Investigation».

Last Updated on Monday, 01 July 2019 11:02 Read more
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