Lysosomal Storage Diseases
Recent clinical, regulatory, research and industry developments relating to this disease.
Advances in therapies for neurological lysosomal storage disorders.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes3
- Genetic Therapy1
- Lysosomal Storage Diseases1
- Quality of Life1
Leading journals1
- Journal of inherited metabolic disease2
Leading researchers8
- Aiuti A1
- Bernardo ME1
- Bigger B1
- Calbi V1
- Ellison S1
- Fumagalli F1
- Parker H1
- Penati R1
Affiliations (unnormalised)4
- IRCCS San Raffaele Scientific Institute1
- San Raffaele Telethon Institute for Gene Therapy (SR-TIGET)1
- University of Manchester1
- Vita Salute San Raffaele University1
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
- 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.