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Peroxisome biogenesis disorder due to PEX1 defect

MONDO:0100259

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.

Also known as: PEX1 related Zellweger spectrum disorder, peroxisome biogenesis disorder due to PEX1 defect

8 clinical trials for this condition and its sub-types, 0 tagged with Peroxisome biogenesis disorder due to PEX1 defect itself.

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↑ Zellweger spectrum disorders (7)

Sub-types of Peroxisome biogenesis disorder due to PEX1 defect

Peroxisome biogenesis disorder 1B 1 trial
Peroxisome biogenesis disorder 1A (Zellweger) 0 trials

Including sub-types (8) Tagged with Peroxisome biogenesis disorder due to PEX1 defect (0)

Trials to join now! 4 Not yet finished but already full! 1 Completed 2 Terminated 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This 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