ALS, ALS, ALS)
About
The etiology of ALS is highly heterogeneous: about 10% are familial (fALS), and more than 30 pathogenic genes such as SOD1, C9orf72, TARDBP, and FUS have been identified;90% are sporadic (sALS), which may be related to the coordinated pathogenesis of multiple factors such as glutamate excitotoxicity, oxidative stress, mitochondrial dysfunction, neuroinflammation and abnormal RNA metabolism. The core pathogenic mechanism is selective apoptosis of upper and lower motor neurons. Core dilemmas: ① The existing drug riluzole can only delay the course of the disease by about 2-3 months;② The tofersen approved in 2023 only covers about 2% of the SOD1 mutant population;③ The blood-brain barrier drug delivery is difficult, and the ability to regenerate motor neurons is extremely low.
Features & Symptoms
- Irreversible death of motor neurons
- Progressive muscle atrophy and paralysis
- Eventually affects breathing and swallowing function
- The patient is conscious throughout the entire process
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| SOD1/FUS antisense oligonucleotide (ASO) gene silencing therapy | Targeting reduction of SOD1 or FUS mutant mRNA levels by intrathecal injection of antisense oligonucleotides. Biogen's tofersen has received accelerated FDA approval for SOD1-ALS in 2023, making it the world's first ALS disease-modifying therapy. | FDA批准/Phase II | $280K - $650K/年 |
| Intrathecal injection transplantation of neural stem cells/mesenchymal stem cells | The in vitro expanded neural stem cells or umbilical cord mesenchymal stem cells are transplanted through intrathecal injection to delay the apoptosis of motor neurons through paracrine neurotrophic factors and immunoregulatory effects. | Phase II | $450K - $1.2M/疗程 |
| Multi-target neuroprotection joint program | These include cutting-edge neuroprotection strategies such as AMX0035 (sodium phenylbutyrate + taurodeoxycholic acid combination) and retigabine, and comprehensive programs such as combined ventilator assistance and percutaneous gastrostomy nutritional support. | FDA批准/Phase II | $150K - $400K/年 |
Prognosis
Died of respiratory failure 3-5 years after onset
Additional Notes
Notes: Genetic testing recommendations: Gene tests such as SOD1, C9orf72, TARDBP, and FUS should be performed as soon as possible after diagnosis. Patients with SOD1 mutations can consider tofersen (Qalsody) gene silencing therapy; the treatment window suggests that tofersen should be activated as soon as possible when lung function is acceptable, and it is recommended to start evaluation when FVC is greater than 50%; Respiratory management: Regularly monitor FVC, non-invasive ventilation needs to be evaluated when FVC is less than 50%, and invasive ventilation options should be considered when FVC is less than 30%; Nutritional support: Nutritional assessment is required immediately after diagnosis, and percutaneous gastrostomy (PEG) is recommended to be completed before FVC drops to 50%. Multidisciplinary management: collaboration between neurology, respiratory department, nutrition department, rehabilitation department, and psychology department is required. Liliole and Edaravone should be started as soon as possible after diagnosis, which can delay disease progression for 2-3 months. 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: Phase III clinical. Prognosis: Death due to respiratory failure 3-5 years after onset.
Frequently Asked Questions
What is ALS, ALS, ALS)?
The etiology of ALS is highly heterogeneous: about 10% are familial (fALS), and more than 30 pathogenic genes such as SOD1, C9orf72, TARDBP, and FUS have been identified;90% are sporadic (sALS), which may be related to the coordinated pathogenesis of multiple factors such as glutamate excitotoxicity, oxidative stress, mitochondrial dysfunction, neuroinflammation and abnormal RNA metabolism. The core pathogenic mechanism is selective apoptosis of upper and lower motor neurons. Core dilemmas: ① The existing drug riluzole can only delay the course of the disease by about 2-3 months;② The tofersen approved in 2023 only covers about 2% of the SOD1 mutant population;③ The blood-brain barrier drug delivery is difficult, and the ability to regenerate motor neurons is extremely low.
What are the symptoms of ALS, ALS, ALS)?
Irreversible death of motor neurons,Progressive muscle atrophy and paralysis,Eventually affects breathing and swallowing function,The patient is conscious throughout the entire process
How is ALS, ALS, ALS) treated?
SOD1/FUS antisense oligonucleotide (ASO) gene silencing therapy: Targeting reduction of SOD1 or FUS mutant mRNA levels by intrathecal injection of antisense oligonucleotides. Biogen's tofersen has received accelerated FDA approval for SOD1-ALS in 2023, making it the world's first ALS disease-modifying therapy.; Intrathecal injection transplantation of neural stem cells/mesenchymal stem cells: The in vitro expanded neural stem cells or umbilical cord mesenchymal stem cells are transplanted through intrathecal injection to delay the apoptosis of motor neurons through paracrine neurotrophic factors and immunoregulatory effects.; Multi-target neuroprotection joint program: These include cutting-edge neuroprotection strategies such as AMX0035 (sodium phenylbutyrate + taurodeoxycholic acid combination) and retigabine, and comprehensive programs such as combined ventilator assistance and percutaneous gastrostomy nutritional support.
What is the prognosis for ALS, ALS, ALS)?
Died of respiratory failure 3-5 years after onset