Experimental treatment helps toddler with rare disease

The 2-year-old is the youngest child in the country receiving this treatment to fight Niemann-Pick disease type C, a rare and deadly disease
Source: Health News: CBSNews.com - Category: Consumer Health News Source Type: news

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Niemann-Pick disease type C (NPC) is a lysosomal storage disease with a heterogeneous neurodegenerative clinical course. Multiple therapies are in clinical trials and inclusion criteria are currently mainly ba...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. Miglustat is indicated for the treatment ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Niemann-Pick disease type C (NP-C) is a rare, progressive neurodegenerative disease caused by mutations in the NPC1 or the NPC2 gene. Neurocognitive deficits are common in NP-C, particularly in patients with the ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysos...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characte...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especiall...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
The work could lead to a new generation of potential therapies for Niemann-Pick type C1 and similar disorders.
Source: National Institutes of Health (NIH) News Releases - Category: American Health Source Type: news
(NIH/National Center for Advancing Translational Sciences (NCATS)) Scientists have demonstrated how an investigational drug works against a rare, fatal genetic disease, Niemann-Pick type C1 (NPC1). They found that a closely related compound will activate an enzyme, AMPK, triggering a cellular 'recycling' system that helps reduce elevated cholesterol and other accumulated fats in the brains and livers of NPC1 patients, which are hallmarks associated with severe neurological problems.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
ABSTRACT Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology. Patient-derived iPSC models have been generated for a number of lysosomal storage disorders, including Gaucher disease, Pompe disease, Fabry disease, metachromatic leukodystrophy, the neuronal ceroid lipofuscinoses, Niemann-Pick types A and C1, and several of the mucopolysaccharidoses. Here, we review the strategies employed for reprogramming and differentiation, as well as insights in...
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Neurodegenerative Disorders REVIEW Source Type: research
Rockville global biopharmaceutical company Sucampo Pharmaceuticals Inc. has purchased Gaithersburg-based rare disease company Vtesse Inc. for $200 million, according to an announcement Monday morning. The deal gives Sucampo access to privately held Vtesse’s treatment for the rare Niemann-Pick disease Type C1, which is still in development. The disease is a genetic mutation that causes the loss of a particular enzyme in the body, which is always fatal after early childhood. Vtesse’s fully e nrolled…
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
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