Article

Pharmacological chaperone treatment with Cystadane for aspartylglucosaminuria: an open-label, phase 1b/2, clinical trial

2026-01-07

Abstract excerpt

<title>Abstract</title> <p>Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by a deficiency of the enzyme aspartylglucosaminidase (AGA) that is involved in glycoprotein breakdown. In the absence of this enzyme, glycoasparagines accumulate in the tissues and body fluids of the patients. No treatments targeting the disease cause are currently available. Our earlier findings show that betaine (tri...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 00bb4b6e-54da-5776-932e-256dd24e4ea3
DOI: 10.21203/rs.3.rs-8103849/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pharmacological chaperone treatment with Cystadane for aspartylglucosaminuria: an open-label, phase 1b/2, clinical trialDOI 10.21203/rs.3.rs-8103849/v1Read

Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria.Semantic proximity Read

Aspartylglycosaminuria: a review.Semantic proximity Read

Validation of Aspartylglucosaminidase Activity Assay for Human Serum Samples: Establishment of a Biomarker for Diagnostics and Clinical StudiesSemantic proximity Read

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.Semantic proximity Read

[Molecular lesion and pathophysiology of hyperglycinemia: glycine cleavage system, physiology and pathology].Semantic proximity Read

Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical TranslationSemantic proximity Read

Pharmacological chaperone therapy for the treatment of inborn errors of metabolismSemantic proximity Read

Therapeutic Options in Prevention and Treatment of Aspartoacylase Gene Mutation Resulting Abnormalities in Canavan Disease.Semantic proximity Read

Zinc for GNAO1 encephalopathy: preclinical profiling and a clinical caseSemantic proximity Read

Results from a pilot study on amiodarone administration in monogenic frontotemporal dementia with granulin mutation.Semantic proximity Read

Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centreSemantic proximity Read

Identification of potential pharmacological chaperones that selectively stabilize mutated Aspartoacylases in Canavan disease.Semantic proximity Read