Research
Pharmacological chaperone treatment with Cystadane in aspartylglucosaminuria: an open-label, phase Ib/II trial
Nature · By Minna Laine ·
The Brief
- An open-label phase Ib/II clinical trial tested Cystadane (betaine) as a pharmacological chaperone in aspartylglucosaminuria.
- The trial reports that betaine/Cystadane is safe to use.
- Treatment significantly reduced urinary accumulation of glycoasparagines, according to the published abstract.
Why it matters
It provides early clinical evidence that an existing, orally used compound may be a candidate treatment for a rare inherited metabolic disorder, which matters for clinicians and researchers working on rare diseases.
Who’s affected
- clinicians and researchers in rare inherited metabolic disorders
- patients and families affected by aspartylglucosaminuria
- #rare disease
- #clinical trial
- #pharmacological chaperone
- #betaine
- #aspartylglucosaminuria
- #metabolism
Nature Communications, Published online: 11 November 2026; doi:10.1038/s41467-026-78752-x Here, this phase Ib/II interventional clinical trial shows that betaine/Cystadane is safe to use and significantly reduces urinary accumulation of glycoasparagines and increases…
Timeline
Trial results published online in Nature Communications
nature.com
Pharmacological chaperone treatment with Cystadane in aspartylglucosaminuria: an open-label, phase Ib/II trial