Peroxisomal single enzyme/protein defect
MONDO:0100257Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.
Also known as: peroxisomal single enzyme/protein defect
36 clinical trials for this condition and its sub-types, 0 tagged with Peroxisomal single enzyme/protein defect itself.
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Sub-types of Peroxisomal single enzyme/protein defect
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Disorder of peroxisomal transporter 0 trials · 21 incl. sub-types
3 sub-types
- Adrenoleukodystrophy 19 trials · 20 incl. sub-types Sub-types →
- Acyl-CoA binding domain containing protein 5 deficiency 1 trial
- Congenital bile acid synthesis defect 5 0 trials
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Disorder of glyoxylate metabolism 0 trials · 10 incl. sub-types
1 sub-type
- Alanine glyoxylate aminotransferase deficiency 0 trials · 10 incl. sub-types Sub-types →
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Disorder of peroxisomal alpha oxidation 0 trials · 4 incl. sub-types
1 sub-type
- Phytanoyl-CoA hydroxylase deficiency 0 trials · 4 incl. sub-types Sub-types →
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Disorder of peroxisomal beta oxidation 0 trials · 2 incl. sub-types
5 sub-types
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Disorder of plasmalogens biosynthesis 0 trials · 2 incl. sub-types
5 sub-types
- Rhizomelic chondrodysplasia punctata 2 trials Sub-types →
- Acyl-CoA binding domain containing protein 5 deficiency 1 trial
- Alkylglycerone-phosphate synthase deficiency 0 trials · 1 incl. sub-types Sub-types →
- Glyceronephosphate O-acyltransferase deficiency 0 trials · 1 incl. sub-types Sub-types →
- Fatty acyl-CoA reductase defects 0 trials Sub-types →
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Disorder of defective peroxisome oxidative status 0 trials · 1 incl. sub-types
3 sub-types
- Mitchell syndrome 1 trial
- Acatalasia 0 trials
- Mulibrey nanism 0 trials
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1 sub-type
Most studied deeper sub-types
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Experimental gene therapy aims to halt fatal brain disease in children
Disease control Not yet recruitingThis trial tests a gene therapy for X-linked adrenoleukodystrophy (X-ALD), a rare genetic disease that damages the brain. The therapy uses a modified virus to deliver a working copy of the faulty gene directly into the spinal fluid and bloodstream. Up to 30 patients aged 1 year a…
Sponsor: Shenzhen Geno-Immune Medical Institute • Aim: Disease control
Last updated Sep 03, 2026 00:00 UTC
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Could pomegranate supplements help heal the gut in Alcohol-Related liver disease?
Knowledge-focused Not yet recruitingThis study investigates how pomegranate dietary supplements influence gut bacteria and inflammation in people with alcohol use disorder and alcohol-related liver disease. Researchers will measure levels of beneficial gut metabolites called urolithins and inflammatory markers in b…
Sponsor: University of Louisville • Aim: Knowledge-focused
Last updated Jul 26, 2026 00:00 UTC
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New blood test could help kidney patients in israel
Knowledge-focused Not yet recruitingThis study aims to validate a blood test for measuring oxalate levels, which is currently not available in Israel. Researchers will compare results from a local lab with an external lab using 50 blood samples. They will also explore how vitamin C levels relate to oxalate in patie…
Sponsor: Western Galilee Hospital-Nahariya • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC