Learn About Leukodystrophy

What is the definition of Leukodystrophy?
A Leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to protect the nerves and the nerves can't function normally without it. These disorders are progressive, meaning they tend to get worse with time. The leukodystrophies are a group of disorders caused by spelling mistakes in the genes involved in making myelin. Specific leukodystrophies include metachromatic Leukodystrophy, Krabbe Leukodystrophy, X-linked adrenoLeukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a Leukodystrophy is a decline in functioning of an infant or child who previously appeared healthy. This gradual loss may be seen with issues in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.
What are the alternative names for Leukodystrophy?
  • Leukodystrophy
Who are the top Leukodystrophy Local Doctors?
Ingeborg Mann-Krageloh
Elite in Leukodystrophy
Elite in Leukodystrophy
Tuebingen, BW, DE 

Ingeborg Mann-Krageloh practices in Tuebingen, Germany. Ms. Mann-Krageloh is rated as an Elite expert by MediFind in the treatment of Leukodystrophy. Her top areas of expertise are Metachromatic Leukodystrophy, Leukodystrophy, CACH Syndrome, Pontocerebellar Hypoplasia, and Bone Marrow Transplant.

Odile Tanguy-Boespflug
Elite in Leukodystrophy
Elite in Leukodystrophy
Paris, FR 

Odile Tanguy-Boespflug practices in Paris, France. Ms. Tanguy-Boespflug is rated as an Elite expert by MediFind in the treatment of Leukodystrophy. Her top areas of expertise are Leukodystrophy, Spastic Paraplegia Type 2, CACH Syndrome, and Pelizaeus-Merzbacher Disease.

 
 
 
 
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Elite in Leukodystrophy
Pediatric Neurology | Neurology
Elite in Leukodystrophy
Pediatric Neurology | Neurology

Childrens Health Care Associates Inc

3401 Civic Ctr Blvd, 
Philadelphia, PA 
Languages Spoken:
English

Adeline Vanderver is a Pediatric Neurologist and a Neurologist in Philadelphia, Pennsylvania. Dr. Vanderver is rated as an Elite provider by MediFind in the treatment of Leukodystrophy. Her top areas of expertise are Aicardi-Goutieres Syndrome, Leukodystrophy, CACH Syndrome, Pol 3-Related Leukodystrophy, and Gastrostomy.

What are the latest Leukodystrophy Clinical Trials?
MATRIX - Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

Summary: This study is a national, non-randomized, open-label, multi-site with minimal risk study in adult with adrenomyeloneuropathy (AMN), childhood and adult subjects with cerebral ALD (cALD), juvenile/adult metachromatic leukodystrophy (MLD) and adults with leukoencephalopathy and axonal spheroids and pigmented glia (ALSP). 49 subjects will be enrolled with one blood sample collection during one of the...

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Lentiviral Vector-modified Autologous Hematopoietic Stem Cells for Metachromatic Leukodystrophy (MLD)

Summary: This is a Phase I/II clinical trial of gene therapy for treating Metachromatic leukodystrophy (MLD) using a safety and efficacy improved self-inactivating lentiviral vector TYF-ARSA to transduce patient-derived hematopoietic stem cells (HSCs), with the goal of achieving therapeutic gene correction through transplantation of genetically modified HSCs. The primary objectives are to evaluate the safe...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center