GNE myopathy is a distal myopathy that is thought to be caused by a mutation in the GNE gene that encodes an enzyme in the biosynthetic process of aceneuramic acid (typical sialic acid). The investigators will examine the efficacy and safety of aceneuramic acid (SA-ER tablets) 6g daily for 48 weeks in patients with GNE myopathy in a placebo-controlled, double-blind, controlled trial.

Start Date08 Feb 2021

Sponsor / Collaborator

Nobelpharma Co., Ltd.

ChiCTR1800017192

/ SuspendedNot ApplicableIIT

Efficacy evaluation of compound oligosaccharide-sialic acid administration during pregnancy on maternal-infant gut microbiota modification

Start Date01 Aug 2019

Sponsor / Collaborator

Peking University First Hospital

NCT03775967

/ CompletedNot ApplicableIIT

Estimation of Sialic Acid and IL10 Levels in Stage 1 and 2 Periodontitis Patients

Sialic acid (SA) is the generic term given to a family of acetylated derivatives of neuraminic acid. SA is a 9 carbon monosaccharide. An important function of host SA is to regulate innate immunity. SA is present in several acute phase proteins which are known to be associated with periodontitis. There exists a need for a biomarker, for early detection of disease evolution and more robust therapy efficacy measurements. Till date, there is very little data regarding simultaneous estimation and comparison of total SA content in saliva. IL-10, an anti-inflammatory cytokine, regulates the synthesis of pro-inflammatory cytokines such as IL-1, -2, -6 and stimulates protective antibody production. IL-10 is expressed in both healthy and diseased human periodontal tissues and is reported to be reduced in patients infected with Aggregatibacter actinomycetemcomitans.
The present study was therefore undertaken with an aim, to not only assess the levels of TSA(Total sialic acid levels),but also of IL 10 levels in saliva from stage 1(mild) to stage 2(moderate) periodontitis patients

Start Date10 Oct 2018

Sponsor / Collaborator

Ajman University

100 Clinical Results associated with Aceneuramic acid

100 Translational Medicine associated with Aceneuramic acid

100 Patents (Medical) associated with Aceneuramic acid

5,143

Literatures (Medical) associated with Aceneuramic acid

01 Sep 2025·Comparative Biochemistry and Physiology Part D: Genomics and Proteomics

Dynamic metabolic profiling of sea cucumbers (Apostichopus japonicus) under predation stress

Article

Author: Song, Jian ; Wang, Shuo ; Wang, Qingzhi ; Qu, Liang ; Sun, Yongxin ; Wang, Meng ; Zhao, Chong ; Wang, Chong

The present study utilized non-targeted liquid chromatography-tandem mass spectrometry (LC-MS/MS) to investigate the metabolomic responses of sea cucumber (Apostichopus japonicus) juveniles under predation stress induced by sea stars (Asterina pectinifera) at various time points (3 h, 12 h, 72 h, and 96 h). The findings revealed significant temporal changes in the metabolic profiles of the sea cucumber juveniles under predation stress, with 25, 72, 55, and 53 metabolic products exhibiting significantly different expression levels at each time point (positive ion mode, P < 0.05), respectively. Notably, the impact of predation stress was most pronounced at the 12-h mark. Multivariate statistical methods, including principal component analysis (PCA) and partial least squares-discriminant analysis (PLS-DA), further confirmed distinct clustering of the experimental group away from the control group at each time point, with the most pronounced separation occurring at 12 h, indicating a significant and time-dependent metabolic response to predation stress. Key metabolic pathways associated with predation stress were identified, such as carbon metabolism, pentose phosphate pathway, purine metabolism, riboflavin metabolism, longevity regulation, and antifolate resistance pathways, by integrating variable importance in the projection (VIP), fold change (FC), and P-value. KEGG enrichment analysis highlighted significant expression changes of key metabolites like carbamoyl phosphate, gluconolactone, inosine, 2'-deoxyguanosine, and adenylate in response to predation stress, potentially related to energy metabolism, antioxidant defense, signal transduction, and cellular stress responses. The study provides novel insights into the metabolic adaptability of sea cucumber juveniles to predation stress.

01 Jun 2025·Aquaculture

Dietary methionine requirement of postlarval shrimp (litopenaeus vannamei): Based on growth performance, antioxidant capacity, and lipid metabolism

Author: Yang, Qihui ; Liu, Yucheng ; Xie, Shiwei ; Zhang, Shuang ; Qu, Kangyuan ; Tan, Beiping ; Ma, Yuxuan ; Liu, Hongyu ; Li, Yunzhen ; Song, Jiahao

A 25-day experiment assessed the optimal methionine requirements for postlarval shrimp litopenaeus vannamei (initial weight: 1.3 mg) using five diets with consistent protein and lipid content but different methionine levels (0.86-1.32%).Dietary methionine levels did not significantly impact growth performance and body composition; however, the control group exhibited higher survival rates.Groups M1 and M2 showed increased antioxidant enzyme activities (SOD and T-AOC) and decreased MDA levels.Dietary methionine supplementation activates immune-related genes (toll, dorsal, relish, and myd88), potentially enhancing immune function.The lipid metabolism genes (srebp, acc1, ampk, and cpt-1) exhibited significant upregulation in the M2 and M3 groups, indicating metabolic changes to meet energy demands.In the M1 group, odc-antizym was upregulated while sam-synth was downregulated, indicating alterations in methionine cycle regulation and cellular methylation.Metabolomic anal. revealed that the synthesis of unsaturated fatty acids, the pathway of arachidonic acid metabolism, and other metabolic pathways associated with bile acid metabolism exhibited enhanced activity in the M2 group relative to the M0 group.Concurrently, the levels of methionine and cholesterol were markedly diminished in the M2 group.When the low salt stress lasted for 4 h, there was a significant difference in survival rate among the groups.Quadratic polynomial regression anal. was conducted on the percent weight gain (WG), and a folded model anal. was performed on the survival rate after low salt stress to determine the ideal dietary methionine levels as 1.13% and 1.19%, resp.

01 May 2025·Analytica Chimica Acta

Online monitoring and stable isotope tracing of cancer associated volatiles in murine model captures tumor associated markers in vivo

Article

Author: Gold, Andrew ; Zhu, Jiangjiang ; Jung, Hyein ; Xu, Rui ; Choueiry, Fouad

BACKGROUNDThe imperative need for early cancer detection, which is crucial for improved survival rates in many severe cancers such as lung cancer, remains challenging due to the lack of reliable early-diagnosis technologies and robust biomarkers. To address this gap, innovative screening platforms are essential to unveil the chemical signatures of lung cancer and its treatments. It is established that the oxidative tumor environment induces alterations in host metabolic processes and influences endogenous volatile synthesis. Despite efforts, consensus on unique volatile markers for cancer detection has been elusive, partly due to genetic variation leading to metabolic heterogeneity in humans and the lack of standardized procedures for analytical analyses.RESULTSIn this study, we utilized advanced secondary electrospray ionization (SESI) technique coupled with a high-resolution mass spectrometer (HRMS) to non-invasively monitor lung cancer volatiles in a pre-clinical mouse model in real time. Our findings revealed 651 dysregulated volatile features upon cancer onset and identified 36 features correlated with tumor size. Endogenous tracing of glucose metabolism highlighted the γ-glutamyl cycle as a downstream pathway implicated in lung cancer, driven by an imbalance in glutathione metabolism due to reactive oxygen species (ROS) accumulation. Notably, our study unveiled unique volatile changes associated with gemcitabine and cisplatin treatment, which significantly abrogated tumor growth in vivo. Furthermore, we identified 5-oxoproline as a volatile metabolite indicative of lung cancer response to treatment.SIGNIFICANCEIn conclusion, our SESI-HRMS based analysis of pre-clinical model systematically explores the volatile signatures of lung cancer, and provides a novel non-invasive platform that possess great potential for the real-time, confident, and sensitive detection and monitoring of lung cancer.

News (Medical) associated with Aceneuramic acid

23 Mar 2017

·www.biospace.com

Bay Area’s Ultragenyx Tanks as Seizure Drug Flunks Phase II Test

March 23, 2017 By Alex Keown , BioSpace.com Breaking News Staff NOVATO, Calif. – Shares of Ultragenyx Pharmaceuticals are down more than 8 percent today after the company announced its Phase II drug UX007 to treat seizures failed to meet trial goals. In its announcement, Ultragenyx said UX007 did not reduce the frequency of number of observable seizures among patients during an eight-week period of treatment. The company said treatment with UX007 did show a reduction in absence seizures captured on EEG, but not observable seizures captured by diary. Patients treated with UX007 demonstrated a reduction of 13.4 percent in overall seizure frequency relative to placebo, the company said in its announcement. During the Phase II trial, patients kept a daily seizure diary to capture observable seizures in patients. An electroencephalography (EEG) was used at baseline and week eight to capture absence seizures. Dosing was initiated over a two-week titration period until the patient reached the target dose of 35 percent of total daily calories from UX007, the company said. UX007 is a highly purified, pharmaceutical-grade synthetic seven carbon fatty acid triglyceride intended to provide patients with medium-length, odd-chain fatty acids that can be metabolized to increase intermediate substrates in the Krebs cycle, a key energy-generating process, according to company information. The drug is being developed to treat seizures in patients with glucose transporter type-1 deficiency syndrome (Glut1 DS). Glut1 DS is a severely debilitating disease characterized by seizures, developmental delay, and movement disorders. Glut1 DS is caused by a genetic defect in the transport of glucose into the brain. There are currently no FDA approved treatments specific to Glut1 DS. Emil D. Kakkis , president and chief executive officer of Ultragenyx , said the Phase II data showing the 13.4 percent reduction in seizures suggests UX007 has a “clinically meaningful effect in Glut1DS patients with absence seizures.” Kakkis said the company is looking forward to continue studying UX007 in Ultragenyx’s Phase III study in Glut1 DS patients with movement disorders. He said the company will continue to evaluate its options for UX007 in the indication for seizures. There were no deaths and no treatment-related serious adverse events during the trial. Two of the 36 enrolled patients discontinued treatment during the eight-week placebo-controlled period. During the trial, 12 patients discontinued use during the extension period. Two patients discontinued due to adverse events, four patients due to tolerability reasons and eight for compliance or study burden issues, the company said. Ultragenyx could get a rebound if news is positive regarding its Phase III enzyme replacement therapy candidate rhGUS for the treatment of Mucopolysaccharidosis 7. In July, the company announced the late-stage study met its primary endpoint of reducing urinary GAG (dermatan sulfate) excretion after 24 weeks of treatment. Ultragenyx is set to seek regulatory approval with the U.S. Food and Drug Administration and the European Medicines Agency later this year. In November, Ultragenyx was forced to shelve plans for a quick approval of its investigational Aceneuramic Acid Prolonged Release (Ace-ER) for the treatment of adult patients with GNE Myopathy. The company announced it withdrew a conditional Marketing Authorization Application after a Phase II study “did not provide a sufficient amount of evidence to support an approval” at the time it was received. The company has launched a Phase III trial and plans to submit another MAA to the EMA after data is available later this year.

Phase 2Phase 3Clinical Result

20 Jan 2017

·www.bioportfolio.com

Ultragenyx Pharmaceutical Inc RARE Pharmaceuticals Healthcare Deals and Alliances Profile Prices from USD $250

Summary Ultragenyx Pharmaceutical Inc Ultragenyx is a biotechnology company that develops lifeenhancing therapeutics for rare and ultrarare genetic diseases. The company's products include KRN23, rhPPCA, rhGUS, UX007 and Aceneuramic acid. Its Aceneuramic acid is developed for multiple rare genetic disorders. Ultragenyx develops recombinant fully human monoclonal IgG1 antibody, KRN23 to treat bone disease XLinked Hypophosphatemia and tumorinduced osteomalacia. The company also develops investigational enzyme replacement therapies, recombinant human betaglucuronidase for the development for Mucopolysaccharidosis 7 and rhPPCA for treatment of galactosialidosis. It partners with academic institutes and companies. Ultragenyx is headquartered in Novato, California, the US. Ultragenyx Pharmaceutical Inc RARE Pharmaceuticals Healthcare Deals and Alliances Profile provides you comprehensive data and trend analysis of the company's Mergers and Acquisitions MAs, partnerships and financings. The report provides detailed information on Mergers and Acquisitions, Equity/Debt Offerings, Private Equity, Venture Financing and Partnership transactions recorded by the company over a five year period. The report offers detailed comparative data on the number of deals and their value categorized into deal types, subsector and regions. GlobalData derived the data presented in this report from proprietary inhouse Pharma eTrack deals database, and primary and secondary research. Scope Financial Deals Analysis of the company's financial deals including Mergers and Acquisitions, Equity/Debt Offerings, Private Equity, Venture Financing and Partnerships. Deals by Year Chart and table displaying information encompassing the number of deals and value reported by the company by year, for a five year period. Deals by Type Chart and table depicting information including the number of deals and value reported by the company by type such as Mergers and Acquisitions, Equity/Debt Offering etc. Deals by Region Chart and table presenting information on the number of deals and value reported by the company by region, which includes North America, Europe, Asia Pacific, the Middle East and Africa and South and Central America. Deals by Subsector Chart and table showing information on the number of deals and value reported by the company, by subsector. Major Deals Information on the company's major financial deals. Each such deal has a brief summary, deal type, deal rationale; and deal financials and target Company's major public companies key financial metrics and ratios. Business Description A brief description of the company's operations. Key Employees A list of the key executives of the company. Important Locations and Subsidiaries A list and contact details of key centers of operation and subsidiaries of the company. Key Competitors A list of the key competitors of the company. Key Recent Developments A brief on recent news about the company. Reasons to Buy Get detailed information on the company's financial deals that enable you to understand the company's expansion/divestiture and fund requirements The profile enables you to analyze the company's financial deals by region, by year, by business segments and by type, for a five year period. Understand the company's business segments' expansion / divestiture strategy The profile presents deals from the company's core business segments' perspective to help you understand its corporate strategy. Access elaborate information on the company's recent financial deals that enable you to understand the key deals which have shaped the company Detailed information on major recent deals includes a summary of each deal, deal type, deal rationale, deal financials and Target Company's key financial metrics and ratios. Equip yourself with detailed information about the company's operations to identify potential customers and suppliers. The profile analyzes the company's business structure, locations and subsidiaries, key executives and key competitors. Stay uptodate on the major developments affecting the company Recent developments concerning the company presented in the profile help you track important events. Gain key insights into the company for academic or business research Key elements such as break up of deals into categories and information on detailed major deals are incorporated into the profile to assist your academic or business research needs. Note*: Some sections may be missing if data is unavailable for the company.

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100 Deals associated with Aceneuramic acid

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KEGG	Wiki	ATC	Drug Bank
D11016	Aceneuramic acid	M09AX05	DB11797

R&D Status

Approved

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Indication	Country/Location	Organization	Date
Distal Myopathy, Nonaka Type	Japan	Nobelpharma Co., Ltd.	-

Developing

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Indication	Highest Phase	Country/Location	Organization	Date
Distal Myopathy, Nonaka Type	NDA/BLA	Canada	Ultragenyx Pharmaceutical, Inc.	20 May 2015
Distal Myopathy, Nonaka Type	NDA/BLA	France	Ultragenyx Pharmaceutical, Inc.	20 May 2015
Distal Myopathy, Nonaka Type	NDA/BLA	Israel	Ultragenyx Pharmaceutical, Inc.	20 May 2015
Distal Myopathy, Nonaka Type	NDA/BLA	United States	Ultragenyx Pharmaceutical, Inc.	20 May 2015
Distal Myopathy, Nonaka Type	NDA/BLA	Bulgaria	Ultragenyx Pharmaceutical, Inc.	20 May 2015
Distal Myopathy, Nonaka Type	NDA/BLA	United Kingdom	Ultragenyx Pharmaceutical, Inc.	20 May 2015
Distal Myopathy, Nonaka Type	NDA/BLA	Italy	Ultragenyx Pharmaceutical, Inc.	20 May 2015
Acute Lung Injury	Preclinical	China	Central South University of Forestry & Technology	20 Sep 2024
Thrombocytopenia	Preclinical	-	Hadassah University Hospital	01 Sep 2016

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Study	Phase	Population	Analyzed Enrollment	Group	Results	Evaluation	Publication Date


NCT02377921 (UX001-CL301, Pubmed \| Ann Neurol \| Neurology) Manual	Phase 3	Distal Myopathy, Nonaka Type	89	aceneuramic acid	icdxhfndyk(yhltdksuiy) = wfgvekrvit tzsebpiqln (ritkinkfeg )	Negative	30 Apr 2019
				Placebo	icdxhfndyk(yhltdksuiy) = fwmbbbxbxv tzsebpiqln (ritkinkfeg )
NCT02736188 (CTgov)	Phase 3	Distal Myopathy, Nonaka Type	143	Ace-ER (Ace-ER 6 g/Day)	(yrsmjsreqk) = ibljcspgbx valyhdxeen (nvbfacmoqr, pvcemnqpfq - qjgdfydduq) View more	-	19 Feb 2019
				Ace-ER (Ace-ER 6 g/Day (Parent Study Treatment: Ace-ER 6 g/Day))	mowuqambql(hsgwablvhx) = jujwvjaobo akwofksgqm (ismqbzbfkb, sxsfptmngl - nduuqicoej) View more
NCT02731690 (CTgov)	Phase 2	Distal Myopathy, Nonaka Type	42	UX001 (UX001 6g/Day)	(dcqkoolpqr) = mxhbebyqjt hgsholxcay (exrewbqdgu, qtxprvlcmy - ndgclrlfhg) View more	-	19 Feb 2019
				Ace-ER (Ace-ER 6 g/Day)	ujdanawebq(ygcggeeplq) = evrcfkjunh ntfjjnrdez (hpbytrpjae, yyptrrqbyk - dyjbqpxdul) View more
NCT02377921 (UX001-CL301 \| GNEM, CTgov)	Phase 3	Distal Myopathy, Nonaka Type	89	Placebo	muzxqxfmes(qygpxknpxd) = lakqhhwsmm opinmxcsux (bnooufgjkv, hcngvvqeun - etfrxnexiw) View more	-	09 Jul 2018
NCT01830972 (CTgov)	Phase 2	Distal Myopathy, Nonaka Type	59	SA-IR 500 mg (Crossover Participants)	moonyzxhkc(rjvpouweuo) = evvtxvguzt qrwnheepkf (mlhkmvxcfq, ymeoadoyvw - zdbblxwbsv) View more	-	13 Mar 2018
				SA-IR 500 mg (Naïve Participants)	nkcooruptn(mlqugrimqk) = gasltkezws xpgxmxfgra (eidgkaqatd, gxenrptvoc - aoxniodzly) View more
AAI2017	Not Applicable	-	-	Sialic acid (Clostridium perfringens neuraminidase (NA))	lhjnakgicq(sshaugasfs) = knbamflyrt ujrqalxhqo (nsxxgqznuz )	-	01 May 2017
				Sialic acid (Human tumor necrosis factor (hTNF))	lhjnakgicq(sshaugasfs) = fmrntxvjxy ujrqalxhqo (nsxxgqznuz )
ASCO2004	Phase 2	Extensive stage Small Cell Lung Cancer	30	ACE chemotherapy + pegfilgrastim	(boxzbidjgm) = uzfqjiqkwr mmmnpqftlb (cwzudpcdnl ) View more	-	15 Jul 2004

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