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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A simple brush could spot mouth cancer early in fanconi anaemia patients
Diagnosis Not yet recruitingPeople with Fanconi anaemia have a high risk of developing oral cancer, but standard biopsies are painful and risky due to their genetic sensitivity. This study tests a non-invasive oral brushing technique to detect early cancer cells in 115 patients aged 15 and older. If accurat…
Sponsor: Institut Jean-Godinot • Aim: Diagnosis
Last updated Jun 27, 2026 07:58 UTC
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Scientists launch Largest-Ever study to unravel Cystinosis's Long-Term effects
Knowledge-focused Not yet recruitingThis study follows 250 people with cystinosis, a rare genetic disorder that causes a buildup of the amino acid cystine, leading to damage in the kidneys, eyes, and other organs. Researchers will track how the disease progresses over time, including kidney function, eye problems, …
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC