Lysosomal Storage Diseases (LSDs) are metabolic disorders with a genetic cause and characterized by a pathological accumulation of different substrates in cells of various organs. These build-ups are a result of enzyme deficiencies and affect the brain, visceral organs, skin, heart and many more. Development of new drugs against LSDs focuses on enzyme replacement therapy and substrate reduction therapy approaches.
QPS Neuropharmacology currently offers several Lysosomal Storage Disease mouse models based on different genetic defects and/or transgenes and causing disease-specific deficits. These animals focus on different pathological readouts and constitute suitable models to study the influence of drugs on LSD-related pathology and behavior.
- NPC1-/- Mouse Model
- 4L/PS-NA transgenic Mouse Model
- GBA D409V KI Mouse Model
- Pompe 6neo Mouse Model
- MPS IIIA Mouse Model
QPS Neuropharmacology offers custom tailored study design for these models, and we are flexible to accommodate to your special interests. We are also happy to advice you and propose study designs. QPS Neuropharmacology maintains its own colonies directly in our research facility. Non-transgenic or wildtype littermates are available as control animals needed for proper study design.
We would be happy to test your compounds in these mouse models! Readouts depend on model but the most common are:
- Survival
- Tissue weight
- Visceral organ pathology
- Enzyme and substrate measurements
- Neuroinflammation
- Muscle strength and motor deficits
Looking for something else? Please contact us!
You might be also interested in these related models:
As with all other in vivo models we are also ready to provide samples (brain tissue, CSF etc.) from these animals for analyses in your laboratory.