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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Promising drug may protect kidneys in kids with rare oxalate disorder
Disease control CompletedThis study tested a monthly injection called nedosiran in 27 children from birth to 11 years old with primary hyperoxaluria, a rare condition that causes harmful oxalate buildup and kidney damage. The goal was to see if the drug safely lowers oxalate levels in the urine. Early re…
Phase 2 • Sponsor: Dicerna Pharmaceuticals, Inc., a Novo Nordisk company • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
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New diagnostic strategy aims to end diagnostic odyssey for rare diseases
Diagnosis CompletedThis study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…
Sponsor: University Hospital, Lille • Aim: Diagnosis
Last updated Jun 27, 2026 08:02 UTC
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Kidney stone mystery: why some gene carriers get sick and others stay healthy
Knowledge-focused CompletedThis study looks at people who carry one copy of a mutated AGXT gene, which is linked to a rare kidney stone disease. Some carriers develop kidney stones, while others do not. Researchers will compare their urine oxalate levels and lifestyle factors to find out what triggers symp…
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:28 UTC
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC