Peroxisomal disease
MONDO:0019053A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.
Also known as: disorder of peroxisomal function, peroxisomal disease, peroxisomal disorder, peroxisomal function disorder
34 clinical trials for this condition and its sub-types.
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Broader categories
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Hope for rare brain disease: new drug trial aims to stall deadly decline
Disease control OngoingThis Phase 3 study tests whether the drug leriglitazone can help adult men with cerebral adrenoleukodystrophy (cALD), a rare and serious brain disease. The main goal is to see if the drug delays death or the need for permanent breathing support compared to a placebo. About 40 men…
Phase: PHASE3 • Sponsor: Minoryx Therapeutics, S.L. • Aim: Disease control
Last updated Jul 31, 2026 00:00 UTC
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Stem cell infusion aims to buy time for kids with fatal brain disease
Disease control TerminatedThis early-stage trial tests whether a single infusion of donated mesenchymal stem cells is safe for children with cerebral adrenoleukodystrophy (cALD), a rare and life-threatening brain disease. The stem cells are given as a temporary bridge to buy time before a more definitive …
Phase: PHASE1 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Can a common MS drug help people with a rare nerve disease walk better?
Disease control OngoingThis clinical trial is testing whether dimethyl fumarate, a drug already used for multiple sclerosis, can improve balance and walking in adults with adrenomyeloneuropathy (AMN), a rare nerve disease. Forty participants will take either the drug or a placebo daily for 36 months, w…
Phase: PHASE2, PHASE3 • Sponsor: Pujol, Aurora, M.D. • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New stem cell approach aims to tame rare genetic diseases
Disease control OngoingThis study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…
Phase: PHASE2 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 08:09 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
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Restless leg drug tested for rare disease in women
Symptom relief OngoingThis study looks at whether pramipexole, a drug used for restless leg syndrome, can ease leg symptoms in women with X-linked adrenoleukodystrophy (ALD). About 24 women will take the drug or a placebo for two months. The goal is to see if it improves sleep, walking, and quality of…
Phase: PHASE4 • Sponsor: Massachusetts General Hospital • Aim: Symptom relief
Last updated Jul 03, 2026 00:00 UTC
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Can a decade of real-world data refine treatment for rare bile acid disorders?
Knowledge-focused OngoingThis study is a patient registry that will follow people of any age with bile acid synthesis disorders who are treated with Cholbam (cholic acid). The goal is to collect information over 10 years on how the drug performs in routine clinical care, including its safety, effectivene…
Sponsor: Mirum Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Aug 02, 2026 00:00 UTC
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Researchers watch and learn: PH1 study tracks 207 patients over time
Knowledge-focused OngoingThis study follows 207 people with primary hyperoxaluria type 1 (PH1), a rare kidney disease, to see how the condition progresses over time. Researchers are also checking the long-term safety and real-world effectiveness of the drug lumasiran. Participants are not given any new t…
Sponsor: Alnylam Pharmaceuticals • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC