Creutzfeldt-Jakob disease (CJD)
About
CJD is the most common prion disease, with sporadic forms accounting for 85%, genetic forms accounting for 10-15%, and iatrogenic forms <1%. The pathogenesis is similar to FFI, both of which are neurodegeneration caused by abnormal folding of PrP into PrP. The etiology of sporadic CJD is unknown and may be related to spontaneous conformational transformation or somatic mutation of PrP. Treatment dilemmas: ① The disease progresses rapidly and is often in advanced stages at the time of diagnosis;② There is no effective treatment;③ Very rare (annual incidence rate is about 1-2/million), the commercial feasibility of new drug research and development and subject recruitment are faced with huge difficulties.
Features & Symptoms
- Rapidly progressive dementia
- of myoclonus
- cerebellar ataxia
- The disease progresses rapidly
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| PRNP基因ASO疗法 | In the same strategy as FFI, antisense oligonucleotides reduce PrP production. Ionis Pharmaceuticals is developing ASOs for inherited prion diseases, but the core concern is the normal physiological function of PrP. | 临床前 | $300K - $700K/年 |
Prognosis
Death 6-12 months after onset
Additional Notes
Notes: Confirmed testing: It is recommended to perform CSF 14-3-3 protein, tau protein testing and RT-QuIC (Real-time vibration-induced transformation) testing, RT-QuIC sensitivity>95%; Infection control: CJD prion is infectious, and surgical instruments require special disinfection (Autoclave at 134℃ for 18 minutes); EEG monitoring: Periodic triphasic waves are a characteristic manifestation of sCJD and can be used as an auxiliary diagnosis basis; differential diagnosis: need to be differentiated from treatable dementia such as autoimmune encephalitis, hashimoto encephalopathy, lymphoma; palliative care: After diagnosis, palliative care should be the main focus, focusing on myoclonic management and pain control.; 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.; Research phase: Preclinical research. Prognosis: Death 6-12 months after onset.
Frequently Asked Questions
What is Creutzfeldt-Jakob disease (CJD)?
CJD is the most common prion disease, with sporadic forms accounting for 85%, genetic forms accounting for 10-15%, and iatrogenic forms <1%. The pathogenesis is similar to FFI, both of which are neurodegeneration caused by abnormal folding of PrP into PrP. The etiology of sporadic CJD is unknown and may be related to spontaneous conformational transformation or somatic mutation of PrP. Treatment dilemmas: ① The disease progresses rapidly and is often in advanced stages at the time of diagnosis;② There is no effective treatment;③ Very rare (annual incidence rate is about 1-2/million), the commercial feasibility of new drug research and development and subject recruitment are faced with huge difficulties.
What are the symptoms of Creutzfeldt-Jakob disease (CJD)?
Rapidly progressive dementia,of myoclonus,cerebellar ataxia,The disease progresses rapidly
How is Creutzfeldt-Jakob disease (CJD) treated?
PRNP基因ASO疗法: In the same strategy as FFI, antisense oligonucleotides reduce PrP production. Ionis Pharmaceuticals is developing ASOs for inherited prion diseases, but the core concern is the normal physiological function of PrP.
What is the prognosis for Creutzfeldt-Jakob disease (CJD)?
Death 6-12 months after onset