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
Tochigi, JP 

Hitoshi Osaka practices in Tochigi, 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
Kyoto, JP 

Ken Inoue practices in Kyoto, 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?
Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells
Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells
Who is this study for: Patients with inborn errors of metabolism who have evidence of early demyelinating disease in the central nervous system
Enrollment Status: Recruiting
Publish Date: September 08, 2025
Intervention Type: Biological
Study Drug: DUOC-01
Study Phase: Phase 1

Summary: The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 as an adjunctive therapy in patients with inborn errors of metabolism who have evidence of early demyelinating disease in the central nervous system (CNS) who are undergoing standard treatment with unrelated umbilical cord blood transplantation (UCBT). The secondary objective of t...

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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: June 18, 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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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center