Last update 01 Nov 2024

Sialic Acid Storage Disease

Last update 01 Nov 2024

Basic Info

Synonyms

Adult sialic acid storage disease, Finnish Type Sialuria, Finnish Type Sialurias

+ [60]

Introduction

Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.

Drugs associated with Sialic Acid Storage Disease

Sialidosis(UMass Chan Medical School)

Target

NEU1

Mechanism

NEU1 modulators

Active Org.

UMass Chan Medical School

Originator Org.

UMass Chan Medical School

Active Indication

Sialic Acid Storage Disease

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Sialic Acid Storage Disease

NCT06430008 / Enrolling by invitationNot ApplicableIIT

A Study to Explore the Correlation Between Total Sialic Acid Combined With Superoxide Dismutase and the Diagnosis and Prognosis of Lipoid Pneumonia

The goal of this observational study is to explore the correlation between total sialic acid combined with superoxide dismutase and the diagnosis and prognosis of lipid pneumonia in the patient with lipid pneumonia, cough, bacterial and fungal pneumonia, cryptogenic organizing pneumonia, pulmonary alveolar proteinosis, lung mucinous adenocarcinoma and pulmonary edema. The main question it aims to answer is:
Whether superoxide dismutase (SOD) and total sialic acid (TSA) could be used as diagnostic markers to distinguish lipid pneumonia from patient with cough, and bacterial and fungal pneumonia, cryptogenic organizing pneumonia, pulmonary alveolar proteinosis, lung mucinous adenocarcinoma and pulmonary edema, whether SOD and TSA be associated with the prognosis of patients with lipid pneumonia?
Participants will answer online survey questions about their symptoms, changes in oxygen status, and changes in the most recent CT image of the lung for up to 10 years after treatment. We will count participants' baseline data including: gender, age, smoking history, comorbidities, lung function, imaging findings, hormone use or not, ICU treatment, death or not, the type of cause of lipid pneumonia, how it is diagnosed, and their baseline SOD and TSA.

Start Date01 May 2024

Sponsor / Collaborator

China-Japan Friendship Hospital

NCT05967169 / Active, not recruitingNot Applicable

Early Feasibility Study of Bioabsorbable Polydioxanone Implant and Delivery Device for Correction of Cartilaginous Septal Deviation

Early feasibility study of bioabsorbable implant and delivery device for correction of septal deviation

Start Date25 May 2022

Sponsor / Collaborator

Spirair, Inc.

NCT05297006 / Unknown statusNot ApplicableIIT

Regulation and Mechanism of New Compound Functional Ingredients on Intestinal Microecology and Immune Function in Infants

A prospective, multicentre, randomized, double-blind, parallel control study was conducted to analyze the changes in growth, intestinal flora, and immune function of infants with different feeding patterns from postnatal to 1 year of age.

Start Date01 Apr 2022

Sponsor / Collaborator

Peking University Third Hospital

[+2]

100 Clinical Results associated with Sialic Acid Storage Disease

100 Translational Medicine associated with Sialic Acid Storage Disease

0 Patents (Medical) associated with Sialic Acid Storage Disease

4,949

Literatures (Medical) associated with Sialic Acid Storage Disease

01 Jan 2025·Brain, Behavior, and Immunity

Sleep loss-induced oncogenic pathways are mediated via the neuron-specific interleukin-1 receptor accessory protein (AcPb)

Article

Author: Krueger, James M ; Schwartzmann, Catherine M ; Krueger, James M. ; English, Erika L ; Schwartzmann, Catherine M. ; Liu, Yiyong ; English, Erika L. ; Lee, Yool

Interleukin-1β (IL1), a pleiotropic cytokine, is involved in sleep regulation, tumor ontogeny, and immune responses. IL1 receptor adaptor proteins, including the IL1 receptor accessory protein (AcP), and its neuron-specific isoform, AcPb, are required for IL1 signaling. The AcPb isoform is resultant from alternate splicing of the AcP transcript. Our previous studies using AcPb null (AcPb^-/-) mice characterized its participation in sleep regulation and emergent neuronal/glial network properties. Here, we investigated the impact of acute sleep disruption (SD) on brain cancer-related pathways in wild-type (WT) and AcPb^-/- mice, employing RNA sequencing methods. In WT mice, SD increased AcPb mRNA levels, but not AcP mRNA, confirming prior similar work in rats. Transcriptome and pathway enrichment analyses demonstrated significant alterations in cancer, immune, and viral disease-related pathways in WT mice after SD, which were attenuated in AcPb^-/- mice including multiple upregulated Src phosphorylation-signaling-dependent genes associated with cancer progression and metastasis. Our RNAseq findings, were analyzed within the context of The Cancer Genome Atlas Program (TCGA) data base; revealing an upregulation of sleep- and cancer-linked genes (e.g., IL-17B, IL-17RA, LCN2) across various tumors, including brain tumors, compared to normal tissues. Sleep-linked factors, identified through TCGA analyses, significantly impact patient prognosis and survival, particularly in low-grade glioma (LGG) and glioblastoma multiforme (GBM) patients. Overall, our findings suggest that SD promotes a pro-tumor environment through AcPb-modulated pathways.

01 Dec 2024·International Immunopharmacology

Triphala ameliorates cognitive deficits and anxiety via activation of the Nrf2/HO-1 axis in chronic sleep-deprived mice

Article

Author: Zhang, Yi ; Wen, Xudong ; Rangji, Cai ; He, Mengshan ; Wang, Wenjun ; Long, Pan ; Yu, Shufu

Triphala is renowned for its curative attributes and has been utilized for centuries to address diverse health ailments. Moreover, the active component of Triphala, polyphenols, is widely recognized for its excellent pharmacological activities, such as anti-inflammatory properties, and has been utilized as a potential natural remedy. However, the precise mechanism through which Triphala alleviates cognitive dysfunction and anxiety induced by chronic sleep deprivation (SD) remains restricted. The objective of this investigation is to examine and clarify the potential mechanism of action that underlies the therapeutic benefits of Triphala in addressing cognitive dysfunction and anxiety induced by chronic SD. Our results demonstrated that Triphala significantly alleviates chronic SD-induced behavioral abnormalities. Additionally, Triphala was highly effective at preventing histopathological or morphological damage to neurons located in the hippocampus. The therapeutic effects of Triphala in treating cognitive dysfunction and anxiety induced by chronic SD involve the modulation of several biological pathways, including inflammation and immune responses, oxidative stress, cell growth and differentiation, metabolism, and neurotransmitter communication. Moreover, our study illustrated that Triphala increased the nuclear translocation of nuclear factor erythroid 2-related factor 2 (Nrf2) and significantly activated the Nrf2/hemeoxygenase-1 (HO-1) axis. Additionally, the neuroprotective properties of Triphala were found to be counteracted by the Nrf2 inhibitor ML385. Our study represented the first to unveil that Triphala exerts therapeutic benefits in alleviating chronic SD-induced cognitive deficits and anxiety by activation of the Nrf2/HO-1 axis. Triphala emerges as a promising nutraceutical ingredient for mitigating cognitive deficits and anxiety linked to chronic SD.

01 Dec 2024·Blood Research

Comparable outcomes with low-dose and standard-dose horse anti-thymocyte globulin in the treatment of severe aplastic anemia

Article

Author: Mani, Thenmozhi ; Jandial, Aditya ; Khadwal, Alka ; Singh, Charanpreet ; Lad, Deepesh ; Jain, Arihant ; Malhotra, Pankaj ; Prakash, Gaurav ; Das, Reena ; Varma, Subhash ; Varma, Neelam ; Kishore, Kamal

AbstractBackgroundThe standard dose (SD) of horse anti-thymocyte globulin (hATG) ATGAM (Pfizer, USA) or its biosimilar thymogam (Bharat Serum, India) for the treatment of Aplastic Anemia (AA) is 40 mg/kg/day for 4 days in combination with cyclosporine. Data on the impact of hATG dose on long-term outcomes are limited. Here, we describe our comparative experience using 25 mg/kg/day (low-dose [LD]) hATG for 4 days with SD for the treatment of AA.MethodsWe retrospectively studied patients with AA (age > 12 years) who received two doses of hATG combined with cyclosporine. Among 93 AA patients who received hATG, 62 (66.7%) and 31 (33.3%) patients received LD and SD hATG with cyclosporine, respectively. Among these,seventeen(18.2%) patients also received eltrombopag with hATG and cyclosporine. Overall response rates [complete response (CR) and partial response (PR)] of LD and SD hATG groups at 3 months (50% vs. 48.4%; p = 0.88), 6 months (63.8% vs. 71.4%; p = 0.67), and 12 months (69.6% vs. 79.2%; p = 0.167) were comparable. The mean (Standard Deviation) 5-year Kaplan–Meier estimate of overall survival and event-free survival was 82.1 (4.6)% and 70.9 (5.5)% for the study population. The mean (standard deviation) 5-year Kaplan–Meier estimate of overall survival and event-free survival of those who received LD hATG versus SD hATG dose was 82.9 (5·3)% versus 74.8 (10·3)% (P = 0·439), and 75.2 (6.2)% versus 61.4(11.2)% (P = 0·441).ConclusionOur study revealed that the response rates of patients with AA and LD were similar to those of patients with SD to hATG combined with cyclosporine in a real-world setting.

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