Disease · MONDO_0011603

GNE myopathy

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. GNE myopathy. Diseases, record MONDO_0011603. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0011603

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: GNE myopathy; Open Targets
Open Targets ID: MONDO_0011603; Open Targets
Other names: DMRV, HIBM2, IBM2, Nonaka myopathy, distal myopathy with rimmed vacuoles, distal myopathy, Nonaka type, hereditary inclusion body myopathy type 2, inclusion body myopathy autosomal recessive, inclusion body myopathy type 2, quadriceps-sparing myopathy; Open Targets
Disease Ontology: DOID:0080718; Disease Ontology
Orphanet: ORPHA:602; Orphanet
Highest stage of its drugs: Phase 3, for 1 of its 3 drugs, from ClinicalTrials.gov; Open Targets

Drugs3

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
ACENEURAMIC ACID	CHEMBL2105945	Small molecule	Phase 3	ClinicalTrials.gov	4	4	4	Drugs and targets
SIALIC ACID	CHEMBL152452	Small molecule	Phase 2	ClinicalTrials.gov	3	3	3	Drugs and targets
N-ACETYLMANNOSAMINE	CHEMBL1231391	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets

Targets0

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

None in this release.

Trials9

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT02736188	Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)	Phase 3	143	2019-02-19	Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy, Quadriceps Sparing Myopathy	ACENEURAMIC ACID	Its record names the disease	ClinicalTrials.gov
NCT02377921	Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)	Phase 3	89	2018-07-09	Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy	ACENEURAMIC ACID	Its record names the disease	ClinicalTrials.gov
NCT01830972	An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy	Phase 2	59	2018-03-13	GNE Myopathy, Hereditary Inclusion Body Myopathy (HIBM)	SIALIC ACID	Its record names the disease	ClinicalTrials.gov
NCT02731690	A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment	Phase 2	42	2019-02-19	Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy, Quadriceps Sparing Myopathy, Inclusion Body Myopathy 2	ACENEURAMIC ACID	Its record names the disease	ClinicalTrials.gov
NCT02346461	An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy	Phase 2	12	2019-04-16	GNE Myopathy	N-ACETYLMANNOSAMINE	Its record names the disease	ClinicalTrials.gov
NCT04231266	Multi-Center Study of ManNAc for GNE Myopathy	Phase 2	54		GNE Myopathy	N-ACETYLMANNOSAMINE	Its record names the disease	ClinicalTrials.gov
NCT01517880	A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy	Phase 2	46		GNE Myopathy, Hereditary Inclusion Body Myopathy	SIALIC ACID	Its record names the disease	ClinicalTrials.gov
NCT04671472	Efficacy Confirmation Study of NPC-09	Phase 3	14		GNE Myopathy, Distal Myopathy With Rimmed Vacuoles (DMRV), Hereditary Inclusion Body Myopathy (hIBM), Nonaka Disease	ACENEURAMIC ACID	Its record names the disease	ClinicalTrials.gov
NCT01236898	Pharmacokinetic Study on N-acetylneuraminic Acid	Phase 1	6		Nonaka Myopathy, Hereditary Inclusion Body Myopathy	SIALIC ACID	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials2

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Ace-ER 6 g/Day vs Placebo: deaths from any cause	0 of 45	0 of 44	89	NCT02377921	Trial comparisons
Ace-ER 6 g/Day vs Placebo: serious adverse events	2 of 45	1 of 44	89	NCT02377921	Trial comparisons

Papers from its trials5

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
31036580	RESULT	1	PubMed
37568154	DERIVED	1	PubMed
34257421	DERIVED	1	PubMed
33893973	DERIVED	1	PubMed
33874971	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0011603

GET https://conductscience.org/api/diseases/v1/MONDO_0011603/drugs

API reference For AI assistants