Niemann-Pick Type C disease
About
NPC is caused by mutations in the NPC1 or NPC2 gene that cause cholesterol transport to be impaired, and cholesterol and sphingolipids accumulate in the lysosomes. It is a progressive neurodegenerative disease. Core dilemmas: ① Nervous system symptoms are worsening steadily and cannot be stopped at present;② Miglustat can delay nervous system progression but has limited effect;③ The disease progresses rapidly, and early diagnosis and treatment are crucial.
Features & Symptoms
- NPC1/NPC2 gene mutation
- Cholesterol transport disorder
- hepatosplenomegaly, nervous system degeneration
- vertical supranuclear ophthalmoplegia
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| Miglustat | Glycosphingolipid synthesis inhibitors are currently the only approved treatment for NPC that can delay nervous system progression. | FDA/EMA批准 | $400K - $800K/年 |
| Hydroxypropyl-β-cyclodextrin (HPβCD) | Intrathecal administration can promote the clearance of cholesterol from the brain and is currently in clinical trials. | Phase III | $500K - $1.2M/年 |
| gene therapy | AAV vectors that deliver normal NPC1 genes are currently in early clinical trials. | Phase I/II | $1M - $2.5M/次（一次性） |
Prognosis
The average survival after the onset of neurological symptoms is approximately 10-15 years
Additional Notes
Notes: Early diagnosis: Neonatal hepatosomegaly should be vigilant against NPC, and vertical eye movement disorder is a characteristic neurological manifestation;Miglustat treatment: has been approved for neurological symptoms of NPC and can delay the progression of neurodegeneration;HPβCD: Intrathecal injection of 2-Hydroxypropyl-β-cyclodextrin is in clinical trials and is a potential disease-modifying therapy; Neurological monitoring: Cognitive function, motor function and behavioral changes need to be regularly assessed; cholesterol metabolism monitoring: serum cholesterol and lipoprotein levels need to be monitored.; Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Study phase: FDA/EMA approval. Prognosis: The average survival after the onset of neurological symptoms is about 10-15 years.
Frequently Asked Questions
What is Niemann-Pick Type C disease?
NPC is caused by mutations in the NPC1 or NPC2 gene that cause cholesterol transport to be impaired, and cholesterol and sphingolipids accumulate in the lysosomes. It is a progressive neurodegenerative disease. Core dilemmas: ① Nervous system symptoms are worsening steadily and cannot be stopped at present;② Miglustat can delay nervous system progression but has limited effect;③ The disease progresses rapidly, and early diagnosis and treatment are crucial.
What are the symptoms of Niemann-Pick Type C disease?
NPC1/NPC2 gene mutation,Cholesterol transport disorder,hepatosplenomegaly, nervous system degeneration,vertical supranuclear ophthalmoplegia
How is Niemann-Pick Type C disease treated?
Miglustat: Glycosphingolipid synthesis inhibitors are currently the only approved treatment for NPC that can delay nervous system progression.; Hydroxypropyl-β-cyclodextrin (HPβCD): Intrathecal administration can promote the clearance of cholesterol from the brain and is currently in clinical trials.; gene therapy: AAV vectors that deliver normal NPC1 genes are currently in early clinical trials.
What is the prognosis for Niemann-Pick Type C disease?
The average survival after the onset of neurological symptoms is approximately 10-15 years