Pelizaeus-Merzbacher Disease
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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
Elite in Pelizaeus-Merzbacher Disease
Referral may be required
Shimotsuke, JP 

Hitoshi Osaka practices practicing medicine in Shimotsuke, Japan. Mr. Osaka is rated as an Elite expert by MediFind in the treatment of Pelizaeus-Merzbacher Disease. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Pelizaeus-Merzbacher Disease, CACH Syndrome, Leigh Syndrome, West Syndrome, and Liver Transplant.

Elite in Pelizaeus-Merzbacher Disease
Elite in Pelizaeus-Merzbacher Disease
Referral may be required
Kochi, JP 

Ken Inoue practices practicing medicine in Kochi, Japan. Mr. Inoue is rated as an Elite expert by MediFind in the treatment of Pelizaeus-Merzbacher Disease. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Pelizaeus-Merzbacher Disease, CACH Syndrome, Colorectal Polyps, Endoscopy, and Colonoscopy.

 
 
 
 
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Elite in Pelizaeus-Merzbacher Disease
Elite in Pelizaeus-Merzbacher Disease
Referral may be required
Henan Provincial Key Laboratory Of Children's Genetics And Metabolic Diseases, 33 Longhu Outer Ring East Road, Zhengdong New District, 
Zhengzhou, CN 

Dongxiao Li practices practicing medicine in Zhengzhou, China. Li is rated as an Elite expert by MediFind in the treatment of Pelizaeus-Merzbacher Disease. They are also highly rated in 16 other conditions, according to our data. Their clinical expertise encompasses Pelizaeus-Merzbacher Disease, Methylmalonic Acidemia, CACH Syndrome, and Chromosome 7q Duplication.

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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 03, 2026
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 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn errors of metabolism and who have evidence of early demyelinating disease in the central nervous system (CNS). The secondary objective of the study is to describe the efficacy ...

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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: April 17, 2026

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