Pelizaeus-Merzbacher Disease Overview

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Learn About Pelizaeus-Merzbacher Disease

What is the definition of Pelizaeus-Merzbacher Disease?
Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. It is caused by an inability to form myelin due to genetic changes in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males.
What are the alternative names for Pelizaeus-Merzbacher Disease?
  • Pelizaeus-Merzbacher disease
  • PMD
  • Pelizaeus Merzbacher brain sclerosis
  • Pelizaeus Merzbacher disease
Who are the top Pelizaeus-Merzbacher Disease Local Doctors?
Elite in Pelizaeus-Merzbacher Disease
Hitoshi Osaka
Elite in Pelizaeus-Merzbacher Disease
Hitoshi Osaka
Shimotsuke, JP 

Hitoshi Osaka practices in Shimotsuke, Japan. Mr. Osaka is rated as an Elite expert by MediFind in the treatment of Pelizaeus-Merzbacher Disease. His top areas of expertise are Pelizaeus-Merzbacher Disease, CACH Syndrome, Leigh Syndrome, and West Syndrome.

Elite in Pelizaeus-Merzbacher Disease
Ken Inoue
Elite in Pelizaeus-Merzbacher Disease
Ken Inoue
Kochi, JP 

Ken Inoue practices in Kochi, Japan. Mr. Inoue is rated as an Elite expert by MediFind in the treatment of Pelizaeus-Merzbacher Disease. His top areas of expertise are Pelizaeus-Merzbacher Disease, CACH Syndrome, Colorectal Polyps, Endoscopy, and Colonoscopy.

 
 
 
 
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Elite in Pelizaeus-Merzbacher Disease
Yuwu W. Jiang
Elite in Pelizaeus-Merzbacher Disease
Yuwu W. Jiang
Beijing, CN 

Yuwu Jiang practices in Beijing, China. Jiang is rated as an Elite expert by MediFind in the treatment of Pelizaeus-Merzbacher Disease. Their top areas of expertise are Pelizaeus-Merzbacher Disease, CACH Syndrome, Epilepsy, and Epilepsy in Children.

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What are the latest Pelizaeus-Merzbacher Disease Clinical Trials?
A Phase 1b Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION356 in Patients With Pelizaeus Merzbacher Disease
A Phase 1b Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION356 in Patients With Pelizaeus Merzbacher Disease
Enrollment Status: Recruiting
Publish Date: December 12, 2025
Intervention Type: Drug
Study Phase: Phase 1

Summary: The primary purpose of this study is to evaluate the safety and tolerability of ION356.

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Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
Enrollment Status: Recruiting
Publish Date: November 28, 2025

Summary: The purpose of the study is to prospectively assess longitudinal changes in proteolipid protein 1 (PLP1) protein, disease-related biomarkers in cerebral spinal fluid (CSF) and blood, neuroimaging parameters relevant to Pelizaeus-Merzbacher disease (PMD) and longitudinal changes in performance on clinical, participant, and caregiver-reported outcome assessments to inform the development of therapie...

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center