Miglustat improves swallowing in children and adolescents with Niemann-Pick type C1 disease
NIH observational study suggests that the drug may decrease risk of pneumonia and death in this population. (Source: National Institutes of Health (NIH) News Releases)
Source: National Institutes of Health (NIH) News Releases - September 9, 2020 Category: American Health Source Type: news
Orphazyme Completes Rolling Submission of New Drug Application To U.S. FDA for Arimoclomol for Niemann-Pick Disease Type C
Copenhagen, Denmark, July 20, 2020– Orphazyme A/S (ORPHA.CO), a late-stage biopharmaceutical company pioneering the Heat-Shock Protein response in order to develop and commercialize novel therapeutics for the treatment of... (Source: Drugs.com - New Drug Applications)
Source: Drugs.com - New Drug Applications - July 20, 2020 Category: Drugs & Pharmacology Source Type: news
Orphazyme Initiates Rolling Submission of New Drug Application for Arimoclomol with US FDA in Niemann-Pick Disease Type C
Copenhagen, Denmark, May 29, 2020 – Orphazyme A/S (ORPHA.CO), a biopharmaceutical company pioneering the Heat-Shock Protein response for the treatment of neurodegenerative orphan diseases, today announces it has initiated the... (Source: Drugs.com - New Drug Applications)
Source: Drugs.com - New Drug Applications - May 29, 2020 Category: Drugs & Pharmacology Source Type: news
How Does Gaucher Disease Present?
Discussion
Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish po...
Source: PediatricEducation.org - December 9, 2019 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
Girl, four, with 'childhood Alzheimer's' defies her death sentence to start pre-school
Marian McGlockin, from California, was diagnosed with deadly Niemann-Pick disease type C (NPC) at just 18 months old. Doctors told her family to prepare for the worst. (Source: the Mail online | Health)
Source: the Mail online | Health - October 4, 2019 Category: Consumer Health News Source Type: news
Niemann-Pick Disease
Title: Niemann-Pick DiseaseCategory: Diseases and ConditionsCreated: 8/23/2018 12:00:00 AMLast Editorial Review: 8/23/2018 12:00:00 AM (Source: MedicineNet Kids Health General)
Source: MedicineNet Kids Health General - August 23, 2018 Category: Pediatrics Source Type: news
Healthy' toddler is battling condition similar to ALZHEIMER'S
Single mother Elaine Fisher, 38, of Dudley, West Midlands, has been left 'mourning' following the heartbreaking diagnosis of her daughter, Holly, with Niemann-Pick Type C. (Source: the Mail online | Health)
Source: the Mail online | Health - April 19, 2018 Category: Consumer Health News Source Type: news
'Healthy' toddler, 3, is battling a devastating condition similar to ALZHEIMER'S
Single mother Elaine Fisher, 38, of Dudley, West Midlands, has been left 'mourning' following the heartbreaking diagnosis of her daughter, Holly, with Niemann-Pick Type C. (Source: the Mail online | Health)
Source: the Mail online | Health - April 19, 2018 Category: Consumer Health News Source Type: news
The Texas sisters with childhood Alzheimer's
Both Abby, three, and Belle, seven, have Niemann-Pick Type C1, a genetic disease where in time, children slowly regress until they can ’t walk, eat, and dementia will set in before age 10. (Source: the Mail online | Health)
Source: the Mail online | Health - December 27, 2017 Category: Consumer Health News Source Type: news
The sisters with childhood Alzheimer's
Both Abby, three, and Belle, seven, have Niemann-Pick Type C1, a genetic disease where in time, children slowly regress until they can ’t walk, eat, and dementia will set in before age 10. (Source: the Mail online | Health)
Source: the Mail online | Health - December 27, 2017 Category: Consumer Health News Source Type: news
2-hydroxypropyl- & #946;-cyclodextrins and blood-brain barrier in Niemann-Pick Disease type C1
(Bentham Science Publishers) The rare, chronic, autosomal-recessive lysosomal storage disease Niemann-Pick disease type C1 (NPC1) is characterized by progressively debilitating and ultimately fatal neurological manifestations. There is an urgent need for disease-modifying therapies that address NPC1 neurological pathophysiology; and passage through the blood-brain barrier represents an important consideration for novel NPC1 drugs. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - December 13, 2017 Category: Biology Source Type: news
Corrigendum to "Niemann-Pick disease type C presenting as a developmental coordination disorder with bullying by peers in a school-age child" - Suzuki R, Tanaka A, Matsui T, Gunji T, Tohyama J, Narita A, Nanba E, Ohno K.
[This corrects the article DOI: 10.1155/2015/807591.].
Language: en... (Source: SafetyLit)
Source: SafetyLit - November 2, 2017 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news
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)
Source: Health News: CBSNews.com - October 9, 2017 Category: Consumer Health News Source Type: news
Intrathecal Therapy May Slow Fatal Niemann-Pick Disease Intrathecal Therapy May Slow Fatal Niemann-Pick Disease
Intrathecal hydroxyproyl-beta-cyclodextrin appears to slow progression of cognitive and speech deficits. Hearing loss was a notable adverse event but was ' manageable ' in this devastating disease, say investigators.Medscape Medical News (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - August 22, 2017 Category: Consumer Health News Tags: Neurology & Neurosurgery News Source Type: news
Cyclodextrin slows NPC progression in new Washington University trial
A new clinical trial conducted by Washington University School of Medicine in St Louis and the National Institutes of Health (NIH) in the US has shown that a drug called cyclodextrin slows progression of Niemann-Pick type C (NPC) disease. (Source: Drug Development Technology)
Source: Drug Development Technology - August 13, 2017 Category: Pharmaceuticals Source Type: news
