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Disease

Leukodystrophy, Globoid Cell

Active therapeutic pipelineEmerging research
1
Publications
1
Clinical trials
2016
Latest publication
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Clinical trials

1 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Research activity

1 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Leading journals1
  • Scientific reports1
Leading researchers8
  • Cappello V1
  • Cecchini M1
  • Gemmi M1
  • Landi S1
  • Marchetti L1
  • Parlanti P1
  • Piazza V1
  • Tonazzini I1
Affiliations (unnormalised)1
  • Center for Nanotechnology1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.