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Disease
Lysosomal Storage Diseases
Clinical development underwayEmerging research
2
Publications
2
Clinical trials
2023
Latest publication
Latest activity
betaRecent clinical, regulatory, research and industry developments relating to this disease.
Advances in therapies for neurological lysosomal storage disorders.
Research2023-05-02Journal of inherited metabolic disease
Research2017-05-30Journal of inherited metabolic disease
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
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Clinical trials
The current development programme across all trial phases.
Clinical programme
2
0
0
0
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Publications over time
20172023
Most influential
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
Reference
Authoritative identity, definition & identifiers.
Defined in MeSH
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
Identifiers
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.