Observational Study patients with Pelizaeus-Merzbacher disease (PMD)

• Research type

  Research Study

• Full title

  Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients with Pelizaeus-Merzbacher Disease

• IRAS ID

  356701

• Contact name

  Lydia Green

• Contact email

  lydia.green2@nhs.net

• Sponsor organisation

  Ionis Clinical Trial Information

• Clinicaltrials.gov Identifier

  NCT05659901

• Clinicaltrials.gov Identifier

  N/A, N/A

• Duration of Study in the UK

  3 years, 7 months, 6 days

• Research summary

  The child is being invited to participate in this research study because the child has Pelizaeus-Merzbacher disease (PMD).
  Neurons are a special type of cell in our brains and spinal cord that transmit and receive electric signals (impulses) throughout our central nervous system. Neurons are made up of dendrites and axons. The axon is covered in myelin. Myelin serves an incredibly important function. It protects the axon and allows an impulse to get from one neuron to another. The protein called “proteolipid protein 1” (PLP1) plays an important role in the formation of myelin. In PMD the protein PLP1 has abnormalities and causes little or no myelin to be formed. This results in little, if any, impulse making it to the next neuron, which causes problems in the nervous system of the child.

  The purpose of this study is to learn about any changes in the course of time for the following:
  - The levels of proteolipid protein 1 (PLP1) in the child’s blood and cerebral spinal fluid (CSF), a clear fluid that surrounds our brain and spinal cord.
  - “Biomarkers”: that are related to PMD and present in the blood and CSF. Biomarkers are measurable indicators of biological processes, diseases, or treatment responses.
  - Changes to the brain, which will be recorded through special types of images using a brain scanner also called a magnetic-resonance imaging (MRI) scanner.
  We would also like to collect past medical information for the child (Retrospective Data collection).

  This study is made of two parts. Each child enrolled in this study will only participate in one part. All the information gained from this study will be used to help develop therapies for PMD, as currently there is no cure for this disease.
  

• REC name

  Wales REC 4

• REC reference

  25/WA/0244

• Date of REC Opinion

  2 Dec 2025

• REC opinion

  Further Information Favourable Opinion