Pelizaeus-Merzbacher spectrum disorder
MONDO:0010714
An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.
Disease research snapshot
CureCurrent currently links 2 distinct registered clinical trials to Pelizaeus-Merzbacher spectrum disorder through its MONDO disease mappings. 1 of those studies have the registry status “recruiting” (50%). These are registry statuses, not availability guarantees, study results or evidence of effectiveness.
The leading sponsor shown in this linked dataset is Children's Hospital of Philadelphia, associated with 2 distinct linked trials. This is a count of records, not a ranking of the sponsor's scientific quality.
The highest-count mapped research city in the current result is Philadelphia, United States. Only site locations available in the published registry projection are counted; some trial sites may be missing or outdated.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
Pelizaeus–Merzbacher disease
Pelizaeus–Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in proteolipid protein 1 (PLP1), a major myelin protein. It is characterized by a decrease in the amount of insulating myelin surrounding the nerves (hypomyelination) and belongs to a group of genetic diseases referred to as leukodystrophies.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Clinical trials
2 shownDrugs being studied
Research locations
Leading sponsors
How to interpret this record
CureCurrent links normalized diseases, medicines, registry study labels, sponsors and research sites. A link is not the same as a finding of clinical effectiveness. Our research guides explain how to compare studies, decode RxNorm identities, and avoid over-interpreting site and trial counts. See the published database coverage for mapping completeness.
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.