HIBM

AcronymDefinition
HIBMHereditary Inclusion Body Myopathy
References in periodicals archive ?
6] Nonstandard abbreviafions: CDG, congenital disorders of glycosylation; TIEF, transferrin isoelectric focusing; ApoC-III, apolipoprotein C-III; IEF, isoelectric focusing; Ga1NAc, N-acetylgalactosamine; NeuAc, sialic acid; FTC, familial tumoral calcinosis (MIM 211900); HIBM, hereditary inclusion body myopathy (MIM 600737); MEB, muscle-eye-brain disease (MIM 253280); HUS, hemolyfic uremic syndrome; HGPS, Hutchinson Gilford progeria syndrome (MIM 176670), F5FSD, a combined deficiency of factor V and factor VIII (MIM 227300); ER, endoplasmic reficulum; COG7, conserved oligomeric Golgi complex; CMP-NeuAc: cytidine 5'monophospho-N-acetylneuraminic acid; GNE/MNK, uridine-5'-diphosphate-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase; GALNT3, UDP-Ga1NAc transferase 3.
The Phase 1 clinical trial was a multi-center, sequential dose-escalation study designed to characterize the safety, tolerability and pharmacokinetics of UX001 Sialic Acid-Extended Release (SA-ER) tablets in patients with HIBM disease.
We are encouraged by the results of this early stage clinical trial which suggest SA-ER in single and repeated oral dosing is well-tolerated and has the potential to be a treatment for patients suffering from HIBM," said Emil D.
A Phase 2 study for UX001 SA-ER in patients with HIBM is planned to begin enrollment in the second quarter of this year.
Patients with HIBM typically begin to have weakness and abnormal walking at 18 to 30 years of age.
We deeply appreciate the participation and enthusiastic support of the HIBM patient community for our Phase 1 study.
The Phase 1 clinical study evaluated the pharmacokinetics (PK) and safety of UX001 in 28 HIBM patients.