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Atypical hypotonia-cystinuria syndrome

MONDO:0016539

A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).

Also known as: atypical HCS

42 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn mitochondrial metabolism disorder (57) Inborn errors of metabolism (42) Mitochondrial disease (39) Syndromic disease (24) Human disease (14) Chromosomal disorder (12) Developmental defect during embryogenesis (7)

Trials to join now! 19 Not yet recruiting 4 Not yet finished but already full! 8 Completed 10 Terminated 1

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders

Disease control Terminated

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …

Phase: PHASE2, PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 12:03 UTC