Inborn disorder of lysosomal amino acid transport
MONDO:0019246Also known as: disorder of lysosomal amino acid transport
15 clinical trials for this condition and its sub-types, 0 tagged with Inborn disorder of lysosomal amino acid transport itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Inborn disorder of lysosomal amino acid transport
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Cystinosis 12 trials
2 sub-types
- Nephropathic cystinosis 4 trials Sub-types →
- Ocular cystinosis 0 trials
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Free sialic acid storage disease 2 trials · 3 incl. sub-types
4 sub-types
- Salla disease 2 trials
- Sialuria 1 trial
- Free sialic acid storage disease, infantile form 0 trials
- Intermediate severe Salla disease 0 trials
Most studied deeper sub-types
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New cystinosis drug shows promise in early trial
Disease control OngoingThis study tests a new oral solution called NPI-001 in people with cystinosis, a rare disease that causes cystine buildup in cells. Researchers want to see if NPI-001 is safe and works better than the current drug cysteamine. About 12 participants aged 10 and older will stop thei…
Phase 1/2 • Sponsor: Nacuity Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC