Inborn disorder of ornithine or proline metabolism
MONDO:0019230Also known as: disorder of ornithine or proline metabolism
4 clinical trials for this condition and its sub-types, 0 tagged with Inborn disorder of ornithine or proline metabolism itself.
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Browse by category →Sub-types of Inborn disorder of ornithine or proline metabolism
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Inborn disorder of ornithine metabolism 0 trials · 4 incl. sub-types
2 sub-types
- Ornithine aminotransferase deficiency 4 trials
- P5CS deficiency 0 trials Sub-types →
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3 sub-types
- P5CS deficiency 0 trials Sub-types →
- Autosomal recessive cutis laxa type 2 0 trials Sub-types →
- Hyperprolinemia 0 trials Sub-types →
Most studied deeper sub-types
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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
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Scientists track rare eye disease to uncover clues for future treatments
Knowledge-focused OngoingThis study follows 46 people with gyrate atrophy, a rare genetic condition that causes vision loss, over 4 years. Researchers measure ornithine levels in the blood and track changes in the retina using eye scans and photos. The goal is to learn how the disease progresses under st…
Sponsor: Jaeb Center for Health Research • Aim: Knowledge-focused
Last updated Aug 19, 2026 00:00 UTC