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

5,088

Literatures (Medical) associated with Aceneuramic acid

01 Apr 2025·INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES

High-viscosity dietary fibers modulate gut microbiota and liver metabolism to prevent obesity in high-fat diet-fed mice

Article

Author: Nakano, Masataka ; Higashimura, Yasuki ; Nagano, Takao ; Nishiuchi, Takumi ; Lelo, Aaron Pambu

Obesity and metabolic disorders are rising global health concerns, emphasizing the need for effective dietary interventions. High-viscosity dietary fibers such as bacterial cellulose (BC) and guar gum (GG) have unique properties that may complement each other in modulating gut microbiota and metabolic health. This study investigates their effects in high-fat diet-fed mice. BC and GG increase Bacteroides, which degrade polysaccharides and produce short-chain fatty acids (SCFAs), supporting metabolic health. BC enhances bile acid excretion and enriches Faecalibaculum, Duncaniella, and Paramuribaculum, promoting gut barrier integrity and reducing inflammation, potentially improving bile acid turnover and lipid metabolism. GG more effectively increases butyrate production by enhancing butyrate-producing bacteria, such as Clostridium XIVa and Kineothrix, and promotes Bifidobacterium, strengthening anti-inflammatory effects and gut barrier function. Both fibers upregulate bile acid biosynthesis, but BC's non-fermentable nature leads to higher bile acid excretion, while GG's fermentation causes lower excretion and broader liver metabolic changes. Both fibers reduce body weight, fat accumulation, and cholesterol levels, highlighting their potential in managing obesity and metabolic disorders. The complementary effects of BC and GG underscore the importance of fiber diversity for targeted dietary strategies to improve metabolic health.

01 Apr 2025·VIRUS GENES

Molecular characterization and genetic analysis of highly pathogenic H5N1 clade 2.3.4.4b in seagulls from Dukan Lake, Iraq

Article

Author: Rahim, Zhino Hussein ; Marouf, Ari Salahadin ; Sheikh, Mohammed Omar Baba ; Saeed, Star Sharif ; Rashid, Peshnyar M Atta

Avian influenza virus (AIV) remains a significant global threat, with periodic reemergence in Iraq. This study marks the first molecular characterization of the highly pathogenic avian influenza (HPAI) H5N1 clade 2.3.4.4b in seagulls. The H5N1 AIV was identified during outbreaks in 2024 at Dukan Lake in Sulaimani province. Phylogenetic analysis of the HA gene revealed that the Dukan Lake strain belongs to subclade 2.3.4.4b, clustering closely with Kazakhstan HPAI strains (A/mute swan/Mangystau/1-S24R-2/2024(H5N1) and (A/Cygnus cygnus/Karakol lake/01/2024(H5N1)), with DNA identities of 99.38% and 98.82%, respectively. Genetic analysis showed a polybasic amino acid cleavage site motif (PLREKRRKRGLF) in the HA gene. Additionally, receptor-binding domain (RBD) analysis indicated a preference for the avian α-2, 3 Sialic acid (SA) receptor over the mammalian α-2, 6 SA receptor. The NA gene analysis revealed amino acid residues D199, I223, S247, and H275, which are susceptible to antiviral drugs. The molecular analysis of the H5N1 Dukan Lake seagull strain provides insights into how the virus spreads among different species and countries, which is crucial for global health security and the development of effective control measures.

01 Mar 2025·FOOD CHEMISTRY

Immunomodulatory effects of inulin-type fructans from Arctium lappa L. by targeting gut microbiota and their metabolites

Article

Author: Zheng, Zhenjia ; Qiu, Zhichang ; Li, Zhibo ; Zhu, Wenqing ; Bai, Xinyan ; Qiao, Yiteng ; Li, Lingyu

This study aimed to examine the in vitro digestion properties and immunomodulatory effects of inulin-type fructans (ALP-1) from Arctium lappa L. on immunosuppressive mice and to explore the underlying mechanisms. The simulated gastrointestinal digestion showed that ALP-1 underwent slight degradation during gastric and intestinal fluid digestion, with most of it reaching the gut as long-chain structures. The administration of ALP-1 effectively improved overall health and regulated immune function according to the spleen index, thymus index, splenic T-lymphocyte subsets, and other immune-related cytokines. Besides, 16S rDNA sequencing, ultra-high-performance liquid chromatography-quadrupole time-of-flight tandem mass spectrometry, and matrix-assisted laser desorption/ionization mass spectrometry imaging technique revealed fructan-induced changes in gut microbiota composition, metabolic processes, and spatial information of key metabolites. These changes likely contributed to the immunomodulatory effects of ALP-1 in immunosuppressive mice. Therefore, ALP-1 shows promise as an immunomodulator for use in functional foods and nutraceuticals.

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.

AntibodyAcquisition

100 Deals associated with Aceneuramic acid

External Link

KEGG	Wiki	ATC	Drug Bank
D11016	Aceneuramic acid	M09AX05	DB11797

R&D Status

Approved

10 top approved records.

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Indication	Country/Location	Organization	Date
Distal Myopathy, Nonaka Type	Japan	Nobel Pharma, Inc.	26 Mar 2024

Developing

10 top R&D records.

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Indication	Highest Phase	Country/Location	Organization	Date
Thrombocytopenia	Phase 2	-	Hadassah University Hospital	01 Sep 2016
Acute Lung Injury	Preclinical	China	Central South University of Forestry & Technology	20 Sep 2024

Clinical Result

Indication

Phase

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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	ywgwmsqcyq(movheifgbh) = kehseiwcin rltbduljsk (xqbmvdyblb )	Negative	30 Apr 2019
				Placebo	ywgwmsqcyq(movheifgbh) = sdizplsjgw rltbduljsk (xqbmvdyblb )
NCT02736188 (CTgov)	Phase 3	Distal Myopathy, Nonaka Type	143	Ace-ER (Ace-ER 6 g/Day)	fphzkporzd = yfjujscdri azbvtyjtxu (muqyrxuxlv, zmgwvijnto - zzkorobjjh) View more	-	19 Feb 2019
				Ace-ER (Ace-ER 6 g/Day (Parent Study Treatment: Ace-ER 6 g/Day))	jgzynaqdvo(jftxwvnwmv) = dejpvzerqm gcxgyhpuoq (xvnvxuzbpb, bfayqczxxu - lhjufejfcg) View more
NCT02731690 (CTgov)	Phase 2	Distal Myopathy, Nonaka Type	42	UX001 (UX001 6g/Day)	zalacacvgq = nfwnjdmdtq htkgotkdtz (vqsjbfwuiq, odfudsbxbe - rdxwvvilvi) View more	-	19 Feb 2019
				Ace-ER (Ace-ER 6 g/Day)	khdiyspmyq(lfqglcgeov) = dpalqmfglz ujxuabyivg (jlegpzkyal, lpvmdtvfmc - wuyjnzzsvu) View more
NCT02377921 (UX001-CL301 \| GNEM, CTgov)	Phase 3	Distal Myopathy, Nonaka Type	89	Placebo	gfswkjdnca(cttckqnrux) = hafmmgipdl bxrqofwnff (ippvmprpyn, gnvkjvqiwh - ixioonzowl) View more	-	09 Jul 2018
NCT01830972 (CTgov)	Phase 2	Distal Myopathy, Nonaka Type	59	SA-IR 500 mg (Crossover Participants)	jpnskotcqt = ovdthjvzaw ebpcvctzaq (mzbhgixvmr, biavvujxfu - kcdgyvkgdh) View more	-	13 Mar 2018
				SA-IR 500 mg (Naïve Participants)	wzoefsedri = pdhmdptmnw gdwhncsfkp (dymzdxqpmr, baddlfhvks - nkgyqlqnhy) View more
AAI2017	Not Applicable	-	-	Sialic acid (Clostridium perfringens neuraminidase (NA))	hbxdnkyqih(jbcfhmgrfa) = xshnhbsglq mvvgkkygyx (htjcgogubp )	-	01 May 2017
				Sialic acid (Human tumor necrosis factor (hTNF))	hbxdnkyqih(jbcfhmgrfa) = kvdfylajzq mvvgkkygyx (htjcgogubp )

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