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Disease

Leukodystrophy, Metachromatic

Active therapeutic pipelineEmerging research
MeSHLeukodystrophy, Metachromatic
2
Publications
1
Clinical trials
2017
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.

Executive briefingUpdating summary…Momentum: Low
Key developments
  • 1 clinical trial expected to report results, the earliest in Q4 2026.
Upcoming Milestones
Clinical Milestones1View
Results expected 1
Activity timeline1

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Atidarsagene autotemcelapproved

Approval — Libmeldy is indicated for the treatment of metachromatic leukodystrophy (MLD) characteriz… (2020)

Clinical trials

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

The current development programme across all trial phases.

Clinical programme
1
All trials
1
Active
0
Late-stage
0
Completed

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2020emaApproval — Atidarsagene autotemcel· Libmeldy is indicated for the treatment of metachromatic leukodystrophy (MLD) characterized by biallelic mutations in the arysulfatase A (ARSA) gene leading to a reduction of the ARSA enzymatic activity: in children with late infantile or early juvenile forms, without clinical manifestations of the disease, in children with the early juvenile form, with early clinical manifestations of the disease, who still  have the ability to walk independently and before the onset of cognitive decline. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Research activity

2 papers

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

Publications over time
20132017
Major themes2
  • Genetic Therapy1
  • Hematopoietic Stem Cell Transplantation1
Leading journals2
  • Journal of inherited metabolic disease1
  • Science (New York, N.Y.)1
Leading researchers8
  • Aiuti A2
  • Fumagalli F2
  • Assanelli A1
  • Baldoli C1
  • Benedicenti F1
  • Bernardo ME1
  • Biasco L1
  • Biffi A1
Affiliations (unnormalised)4
  • IRCCS San Raffaele Scientific Institute1
  • San Raffaele Telethon Institute for Gene Therapy1
  • San Raffaele Telethon Institute for Gene Therapy (SR-TIGET)1
  • Vita Salute San Raffaele University1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.

Identifiers
MeSHLeukodystrophy, Metachromatic
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.