Leukodystrophy News and Research

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Leukodystrophies are inherited disorders that are characterized by a progressive breakdown (demyelination or hypomyelination) of the white matter in the central nervous system, caused by different mechanisms involving myelin proteins, as well as lipid and organic acid metabolism. They have to be distinguished from the “umbrella” term leukoencephalopathy, which is used to delineate any disease of the white matter.

Study provides blueprint for design of new HIV drugs

Scientists have moved a step closer to understanding how one of our body's own proteins helps stop the human immunodeficiency virus (HIV-1) in its tracks.

7 Nov 2011

ISWG researchers establish guidelines for diagnosis and treatment of infantile spasms

Researchers from across the U.S., as part of the Infantile Spasms Working Group (ISWG), established guidelines for the diagnosis and treatment of infantile spasms (IS). The goal of the ISWG is to improve patient outcomes by creating protocols that educate pediatricians on early diagnosis and treatment options. Full details of this study appear online in Epilepsia, a journal published by Wiley-Blackwell on behalf of the International League Against Epilepsy.

3 Sep 2010

Shire's clinical study results for treatment of Gaucher disease to be presented at LDN World Symposium

Shire plc, the global specialty biopharmaceutical company, today announced that data from one of three Phase III clinical trials for velaglucerase alfa, the company's enzyme replacement therapy (ERT) in development for the treatment of Type 1 Gaucher disease, will be presented at the Lysosomal Disease Network (LDN) World Symposium, February 10-12, 2010 in Miami, Florida.

4 Feb 2010

Daval International receives award for its anti-inflammatory agent AIMSPRO

Following the provision of clinical and scientific data to the US Food and Drug Administration (FDA), privately owned UK company Daval International Limited (http://www.davalinternational.com) has been informed that its innovative anti-inflammatory agent AIMSPRO(R) has been awarded an Orphan-Drug designation for the treatment of Amyotrophic Lateral Sclerosis (ALS).

9 Nov 2009

Gene therapy saves two children with adrenoleukodystrophy

The ELA association and Zinedine Zidane, its emblematic ambassador, are proud to announce a world premiere: the results regaring the gene therapy in adrenoleukodystrophy conducted in France have just been published in the prestigious journal Science. Two children have been treated and their diseases have been halted. The children are doing well, which is unexpected for a disease destroying the brain in a few months. This discovery opens up treatment perspectives for numerous widespread diseases.

6 Nov 2009

New technique to treat metabolic disorders in babies while still in the womb

Researchers say a new development in cord blood transplants for inherited metabolic disorders may be curative for some babies who are treated while still in the womb.

20 Oct 2009

Research to explore diagnosis and treatment of rare diseases

The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia.

7 Oct 2009

New hope for Batten disease sufferers

Investigators at the University of Rochester Medical Center have uncovered a promising drug therapy that offers a ray of hope for children with Batten disease – a rare neurodegenerative disease that strikes seemingly healthy kids, progressively robs them of their abilities to see, reason and move, and ultimately kills them in their young twenties.

3 Jan 2008

New ray of hope for children with Batten disease

Investigators at the University of Rochester Medical Center have uncovered a promising drug therapy that offers a ray of hope for children with Batten disease

13 Dec 2007

Umbilical cord blood transplant may confer advantages over bone marrow transplant for kids with life-threatening metabolic disorders

Children born with inherited metabolic disorders that cause organ failure and early death can be treated successfully with umbilical cord blood transplants from unrelated donors and, in some cases go on to live for many years, according to a study led by Duke University Medical Center researchers.

10 Dec 2007

Rochester receives $1.2 million to battle rare childhood disease

"For an orphan disease like Batten, which has such a clear-cut course of deterioration and no present cure, this grant is transformative both for these families and for us, as clinicians and researchers."

12 Sep 2007

New hope for Krabbe disease sufferers

By all expectations, it shouldn't have worked as well as it did. A combination of bone marrow transplantation and gene therapy greatly lengthened the lives of laboratory mice doomed by a rapidly progressing, fatal neurodegenerative disorder also found in people.

9 Jan 2007

Cell therapy slows progression of metachromatic leukodystrophy

In an important discovery, scientists have demonstrated that the progression of a type of genetic brain disease is slowed and symptoms are improved in mice that received cell transplants.

23 Mar 2006

Infants with Krabbe disease saved by cord blood stem cells

Children with a fatal genetic disorder called Krabbe Disease can be saved and their brain development preserved if they receive stem cells from umbilical cord blood before symptoms of the disease develop, according to a study published in the current issue of the New England Journal of Medicine.

20 May 2005