Hypotonia-cystinuria syndrome
MONDO:0011669A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
Also known as: HCS, cystinuria with mitochondrial disease, hypotonia-cystinuria syndrome, hypotonia-cystinuria syndrome type 1, hypotonia-cystinuria type 1 syndrome, homozygous 2P16 deletion syndrome, homozygous 2P16 deletion syndrome, formerly, homozygous 2P21 deletion syndrome
13 clinical trials for this condition and its sub-types.
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Broader categories
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New drug shows promise for rare energy disorder
Disease control CompletedThis study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…
Phase: PHASE2 • Sponsor: Omeicos Therapeutics GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
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Long-Term safety of mitochondrial drug confirmed in 101 patients
Disease control CompletedThis study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…
Phase: PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC