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About 1,018 results

ALLMedicine™ Pick Disease Center

Research & Reviews  363 results

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
https://clinicaltrials.gov/ct2/show/NCT00344331

Jun 24th, 2022 - Niemann-Pick type C disease (NPC) is an autosomal recessive, lysosomal storage disorder characterized by accumulation of cholesterol and gangliosides. NPC is a rare (estimated prevalence of 1:120,000-150,000) neurodegenerative disorder with a wide...

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
https://clinicaltrials.gov/ct2/show/NCT00046202

Jun 24th, 2022 - Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabol...

Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1
https://clinicaltrials.gov/ct2/show/NCT04860960

Jun 23rd, 2022 - The TransportNPC study is a prospective, randomized, double-blind, placebo controlled therapeutic study for 93 patients age 3 and older with confirmed diagnosis of NPC1. The objective of this study is to evaluate the safety, tolerability and effic...

Probable Miglustat-Induced Psychosis in a Child With Niemann-Pick Type C.
https://doi.org/10.1097/WNF.0000000000000511
Clinical Neuropharmacology; Koç Yekedüz M, Öncül Ü et. al.

Jun 14th, 2022 - Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal disease in which psychiatric symptoms, such as psychosis, can also be observed. Miglustat is indicated in cases with progressive neurological manifestations, and although there ha...

A 2-bp deletion mutation in SMPD1 gene leading to lysosomal acid sphingomyelinase defic...
https://doi.org/10.1515/jpem-2021-0480
Journal of Pediatric Endocrinology & Metabolism : JPEM; Kang H, Zhou M et. al.

May 27th, 2022 - Niemann-Pick disease type A (NPDA, MIM: 257200) is an autosomal recessive sphingolipidosis caused by lysosomal acid sphingomyelinase (ASM) deficiency. A cluster of genes located at chromosome 11p15 have been reported to be imprinted genes, such as...

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Clinicaltrials.gov  21 results

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
https://clinicaltrials.gov/ct2/show/NCT00046202

Jun 24th, 2022 - Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabol...

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
https://clinicaltrials.gov/ct2/show/NCT00344331

Jun 24th, 2022 - Niemann-Pick type C disease (NPC) is an autosomal recessive, lysosomal storage disorder characterized by accumulation of cholesterol and gangliosides. NPC is a rare (estimated prevalence of 1:120,000-150,000) neurodegenerative disorder with a wide...

Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1
https://clinicaltrials.gov/ct2/show/NCT04860960

Jun 23rd, 2022 - The TransportNPC study is a prospective, randomized, double-blind, placebo controlled therapeutic study for 93 patients age 3 and older with confirmed diagnosis of NPC1. The objective of this study is to evaluate the safety, tolerability and effic...

Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
https://clinicaltrials.gov/ct2/show/NCT03471143

Apr 12th, 2022 - In the first phase of the study, infants will be treated for a total of 6 weeks, treated twice weekly. Infants will be admitted to the Neonatal Intensive Care Unit (NICU) for the first week of treatment. Procedures during the first week of the stu...

A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C
https://clinicaltrials.gov/ct2/show/NCT05163288

Mar 29th, 2022 - This is a multinational, randomized, placebo-controlled, double-blinded, cross-over Phase III study that will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) versus Placebo for the treatment of Niemann-Pick type C disease (NPC). Pati...

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News  20 results

AI Spots Cognitive Decline; Vax Reactions in MS; When Cutting Opioids Harms Patients
https://www.medpagetoday.com/neurology/generalneurology/95824

Nov 23rd, 2021 - A deep learning model accurately detected cognitive decline from clinical notes up to 4 years before patients were diagnosed with mild cognitive impairment. (JAMA Network Open) Subjective sleep difficulties were associated with self-perceptions of...

Biomarker Detection Improves in Alzheimer's and CTE
https://www.medscape.com/viewarticle/911558

Apr 29th, 2019 - This transcript has been edited for clarity. This is the Medscape Neurology Minute. I'm Dr Alan Jacobs. Researchers from the National Institutes of Health have developed a highly selective and ultrasensitive method for detecting 3-repeat and 4-rep...

National Niemann-Pick Disease Foundation Seeks Executive Director
https://www.mdedge.com/pediatrics/article/155750/rare-diseases/national-niemann-pick-disease-foundation-seeks-executive

Jan 8th, 2018 - The board of the National Niemann-Pick Disease Foundation (NNPDF) is searching for an executive director. Founded 25 years ago, the NNPDF supports patients and families affected by Niemann-Pick disease, a rare disease affecting fewer than 1,000 pa.

National Niemann-Pick Disease Foundation Seeks Executive Director
https://www.mdedge.com/clinicianreviews/article/155750/rare-diseases/national-niemann-pick-disease-foundation-seeks

Jan 8th, 2018 - The board of the National Niemann-Pick Disease Foundation (NNPDF) is searching for an executive director. Founded 25 years ago, the NNPDF supports patients and families affected by Niemann-Pick disease, a rare disease affecting fewer than 1,000 pa.

APOE affects tau pathology independent of amyloid-beta
https://www.mdedge.com/psychiatry/article/148673/alzheimers-cognition/apoe-affects-tau-pathology-independent-amyloid-beta
Michele G. Sullivan

Oct 4th, 2017 - Apolipoprotein E protein isoforms, particularly ApoE4, appear to accelerate brain-wide tau propagation that eventually leads to neuronal injury and death in a manner independent from amyloid-beta, according to findings from transgenic mouse model.

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Patient Education  3 results see all →