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, Cerebellar Hypoplasia, 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 23 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
Beijing, CN 

Yuwu Jiang practices practicing medicine in Beijing, China. Jiang is rated as an Elite expert by MediFind in the treatment of Pelizaeus-Merzbacher Disease. They are also highly rated in 26 other conditions, according to our data. Their clinical expertise encompasses Pelizaeus-Merzbacher Disease, CACH Syndrome, Epilepsy, and Epilepsy in Children.

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What are the latest Pelizaeus-Merzbacher Disease Clinical Trials?
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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Longitudinal Study of Neurodegenerative Disorders
Longitudinal Study of Neurodegenerative Disorders
Enrollment Status: Recruiting
Publish Date: February 09, 2026
Intervention Type: Biological, Other

Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.

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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