RecruitingPhase 1NCT02254863
Neurological
Pelizaeus-Merzbacher Disease
Also known as PMD, PLP1 mutation, hypomyelinating leukodystrophy 1, connatal and classic Pelizaeus-Merzbacher
Pelizaeus-Merzbacher disease (PMD) is an X-linked hypomyelinating leukodystrophy caused by mutations in PLP1, encoding proteolipid protein 1, a major component of myelin in the central nervous system. Inadequate or abnormal myelination caus
7
studies recruiting now
as of 7 Sept 2026
13
studies registered in total
as of 7 Sept 2026
9
countries with a recruiting site
as of 7 Sept 2026
18 Dec 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT05659901
Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease
RecruitingNCT03333200
Longitudinal Study of Neurodegenerative Disorders
RecruitingNot applicableNCT07290114
Mesh-Free Versus Mesh-Based Surgery for Female Stress Urinary Incontinence: A Prospective Comparison of Pubo-Urethral Ligament Plication and Transobturator Tape
RecruitingPhase 1NCT06150716
Orbit Study: A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Intrathecally Administered ION356 in Participants With Pelizaeus Merzbacher Disease (PMD)
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 7 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Pelizaeus-Merzbacher Disease study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: Global Leukodystrophy Initiative (GLIA) · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher disease (PMD) is an X-linked hypomyelinating leukodystrophy caused by mutations in PLP1, encoding proteolipid protein 1, a major component of myelin in the central nervous system. Inadequate or abnormal myelination causes progressive neurological impairment including nystagmus, hypotonia, ataxia, spasticity, and intellectual disability. The connatal form is most severe with onset at birth; the classic form presents in early infancy. There are no approved therapies; stem cell and gene therapy approaches are in active development.
Common clinical features
Nystagmus (early onset)HypotoniaStridorAtaxiaSpasticityIntellectual disabilitySeizures
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Pelizaeus-Merzbacher Disease. Not eligibility rules; those are set by each study.
- PLP1 mutation type (duplication, point mutation, deletion, null mutation) determines phenotype and is a critical eligibility factor for gene therapy trials
- Brain MRI showing hypomyelination pattern is required for diagnostic confirmation and trial documentation
- Allogeneic stem cell transplantation has been attempted in small studies — transplant status may affect future trial eligibility
- PLP1 null mutations causing a distinct milder spastic paraplegia form (SPG2) may be excluded from PMD-specific trials
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).