Adrenoleukodystrophy

Common Name(s)

Adrenoleukodystrophy

Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the apparent defect in peroxisomal beta oxidation and the accumulation of the saturated very long chain fatty acids (VLCFA) in all tissues of the body. The manifestations of the disorder occur primarily in the adrenal cortex, the myelin of the central nervous system, and the Leydig cells of the testes. ABCD1 is an ATPase binding cassette protein in the same category of transporter proteins such as the CFTR and MDR proteins. Identification of X-ALD as a lipid-storage disease, as a defect in the capacity to degrade VLCFAs, and its characterization as a peroxisomal disorder was reviewed by {88:Moser (1997)}. {97:Moser et al. (2005)} provided a clinical review of ALD.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adrenoleukodystrophy" for support, advocacy or research.

ALD Life

A charity to promote awareness, research and prevention of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). ALD Life enables sufferers of ALD and AMN worldwide a forum to come together to support and advise each other. We provide financial and emotional support as well as practical advice and updates on research innovations, as well as raising funds for research and treatments.

Last Updated: 9 Apr 2014

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Fight ALD

Our mission is to save the lives of our boys by bringing about awareness through education--to our community and medical professionals--about the early onset symptoms of X-ALD (Adrenoleukodystrophy), the simple diagnostic blood test, and treatments. We also have information about the adult onset, AMN (Adrenomyeloneuropathy).

Last Updated: 4 Oct 2012

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National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

Last Updated: 13 Oct 2014

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The Cochrane Collaboration

The Cochrane Collaboration consists of a team of people who are interested in producing high quality systematic reviews of controlled clinical trials in cystic fibrosis (CF) and other genetic disorders.

Last Updated: 2 Dec 2009

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The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

Last Updated: 14 Jan 2013

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The Stop ALD Foundation

The Stop ALD Foundation funds innovative new research to jump-start the process of developing new knowledge and new therapies, which must often proceed at an excruciatingly slow pace when only funded by government sources. We also work to educate the medical profession and the public about ALD, raising awareness in order to improve detection, diagnosis and treatment.

Last Updated: 31 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adrenoleukodystrophy" for support, advocacy or research.

ALD Life

A charity to promote awareness, research and prevention of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). ALD Life enables sufferers of ALD and AMN worldwide a forum to come together to support and advise each other. We provide financial and emotional support as well as practical advice and updates on research innovations, as well as raising funds for research and treatments.

http://www.aldlife.org

Last Updated: 9 Apr 2014

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Fight ALD

Our mission is to save the lives of our boys by bringing about awareness through education--to our community and medical professionals--about the early onset symptoms of X-ALD (Adrenoleukodystrophy), the simple diagnostic blood test, and treatments. We also have information about the adult onset, AMN (Adrenomyeloneuropathy).

http://www.fightald.org

Last Updated: 4 Oct 2012

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National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

http://www.nadf.us

Last Updated: 13 Oct 2014

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The Cochrane Collaboration

The Cochrane Collaboration consists of a team of people who are interested in producing high quality systematic reviews of controlled clinical trials in cystic fibrosis (CF) and other genetic disorders.

http://cfgd.cochrane.org

Last Updated: 2 Dec 2009

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The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

http://www.stennisfoundation.org

Last Updated: 14 Jan 2013

View Details
The Stop ALD Foundation

The Stop ALD Foundation funds innovative new research to jump-start the process of developing new knowledge and new therapies, which must often proceed at an excruciatingly slow pace when only funded by government sources. We also work to educate the medical profession and the public about ALD, raising awareness in order to improve detection, diagnosis and treatment.

http://www.stopald.org

Last Updated: 31 Mar 2013

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General Support Organizations

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General Resources

ALD-AMN Route Map

A dedicated website for providing patients and families affected by Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN) a journey of their health and social care needs.

Uploaded By: ALD Life

Updated 4 Apr 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Adrenoleukodystrophy" returned 157 free, full-text research articles on human participants. First 3 results:

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
 

Author(s): Clarissa Troller Habekost, Pedro Schestatsky, Vitor Felix Torres, Daniella Moura de Coelho, Carmen Regla Vargas, Vitor Torrez, Jean Pierre Oses, Luis Valmor Portela, Fernanda dos Santos Pereira, Ursula Matte, Laura Bannach Jardim

Journal:

 

Neurologic impairments in female heterozygotes for X-linked Adrenoleukodystrophy (X-ALD) are poorly understood. Our aims were to describe the neurological and neurophysiological manifestations of a cohort of X-ALD heterozygotes, and to correlate them with age, disease duration, mutations, ...

Last Updated: 21 Jan 2014

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Adrenoleukodystrophy and the mitochondrial connection: clues for supplementing Lorenzo's oil.
 

Author(s): Carlos T Moraes

Journal: Brain. 2013 Aug;136(Pt 8):2339-41.

 

Last Updated: 25 Jul 2013

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Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy.
 

Author(s): Laia Morató, Jorge Galino, Montserrat Ruiz, Noel Ylagan Calingasan, Anatoly A Starkov, Magali Dumont, Alba Naudí, Juan José Martínez, Patrick Aubourg, Manuel Portero-Otín, Reinald Pamplona, Elena Galea, M Flint Beal, Isidre Ferrer, Stéphane Fourcade, Aurora Pujol

Journal: Brain. 2013 Aug;136(Pt 8):2432-43.

 

X-linked adrenoleukodystrophy is a neurometabolic disorder caused by inactivation of the peroxisomal ABCD1 transporter of very long-chain fatty acids. In mice, ABCD1 loss causes late onset axonal degeneration in the spinal cord in association with locomotor disability resembling the ...

Last Updated: 25 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Adrenoleukodystrophy" returned 12 free, full-text review articles on human participants. First 3 results:

Pathophysiology of X-linked adrenoleukodystrophy.
 

Author(s): J Berger, S Forss-Petter, F S Eichler

Journal: Biochimie. 2014 Mar;98():135-42.

 

Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-ALD are mutations in the gene encoding the peroxisomal ATP-binding cassette (ABC) transporter, ABCD1 ...

Last Updated: 3 Feb 2014

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[Peroxisomal ABC transporters and X-linked adrenoleukodystrophy].
 

Author(s): Flore Geillon, Doriane Trompier, Catherine Gondcaille, Gérard Lizard, Stéphane Savary

Journal: Med Sci (Paris). 2012 Dec;28(12):1087-94.

 

X-linked adrenoleukodystrophy (X-ALD) is a complex neurodegenerative disease associated with mutations in the ABCD1 gene, which encodes for a peroxisomal ABC transporter. Thanks to the efforts of the ELA foundation and to the recent successes of gene therapy published in Science in ...

Last Updated: 7 Jan 2013

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X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
 

Author(s): Stephan Kemp, Johannes Berger, Patrick Aubourg

Journal: Biochim. Biophys. Acta. 2012 Sep;1822(9):1465-74.

 

X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop ...

Last Updated: 23 Jul 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Childhood Cerebral Adrenoleukodystrophy (CCALD)
 

Status: Recruiting

Condition Summary: Childhood Cerebral Adrenoleukodystrophy; (X-linked Adrenoleukodystrophy Cerebral Childhood)

 

Last Updated: 18 Jul 2014

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Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
 

Status: Available

Condition Summary: X-linked Adrenoleukodystrophy

 

Last Updated: 3 Sep 2014

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Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy

 

Last Updated: 6 Feb 2009

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