Kujak's syndrome
Dr.
Chen: Hello, I heard that you are an expert in researching Creutzfeldt-Jakob disease (CJD).
My father has been ill since the end of February this year, and it has been five months.
He was previously treated at your hospital and is currently in a nursing home, unconscious and unable to care for himself.
I have seen your discussions about CJD online.
I would like to know if there are any experimental drugs available for CJD, or if they are still in animal testing.
Father's Day is approaching, and I really hope to bring my father some good news so we can celebrate together next year.
I rely on your assistance, thank you.
jessica, 30~39 year old female. Ask Date: 2004/07/30
Dr. Chen Shunsheng reply Rare Disease
A potential new treatment for Creutzfeldt-Jakob Disease (CJD) has finally been discovered.
CJD and human transmissible spongiform encephalopathies are both fatal conditions and currently classified as untreatable rare diseases.
A research group led by Nobel laureate Prusiner at the University of San Francisco published findings in the Proceedings of the National Academy of Sciences in 2001, suggesting that an existing malaria treatment combined with a sedative could be used to treat CJD and human transmissible spongiform encephalopathies.
In laboratory experiments, they found that combining the malaria treatment acridine with the sedative phenothiazine inhibited the disease in neuroblastoma cells infected with scrapie prions.
Notably, the combination of quinacrine and chlorpromazine demonstrated the greatest therapeutic effect.
Historically, quinacrine was used to treat malaria, while chlorpromazine was used for psychiatric disorders; both can penetrate the blood-brain barrier, leading to the immediate consideration of their use for treating CJD and human transmissible spongiform encephalopathies, including a new variant of CJD associated with bovine spongiform encephalopathy (mad cow disease).
Shortly thereafter, a report in the August issue of the Weekly revealed that a 20-year-old British woman with a new variant of CJD related to mad cow disease received this new treatment in San Francisco with promising results (the original text used the term "cured").
Her family noted significant neurological improvement.
For this untreatable condition, any effective therapy would be welcomed.
However, further formal efficacy evaluations and optimal usage methods are necessary, thus a well-designed clinical trial is currently underway.
In April 2002, during the American Academy of Neurology annual meeting, I had an in-depth discussion with Dr.
Michael D.
Geschwind from Prusiner's research group, who strongly recommended this new therapy and suggested participation in the clinical trial.
Once the treatment program begins in Taiwan, all neurologists will be promptly informed.
Regardless, patients with CJD and the new variant, along with their families worldwide, will likely seek further information and consider allowing patients to use this medication directly, rather than participating in a randomized clinical trial that distinguishes between treatment and placebo groups.
In Taiwan, quinacrine has not yet been approved for use in treating CJD and the new variant.
While waiting for the clinical trial, patients may potentially apply for rare disease programs in the future.
Currently, the suggested dosage is 200 mg of quinacrine every six hours for five doses, followed by 100 mg daily.
However, this regimen requires further research before a final decision can be made.
Reply Date: 2004/07/30
More Info
Creutzfeldt-Jakob Disease (CJD) is a rare and fatal neurodegenerative disorder caused by prions, which are misfolded proteins that induce abnormal folding of normal cellular proteins in the brain. This leads to brain damage and the characteristic symptoms of CJD, including rapidly progressive dementia, personality changes, and motor dysfunction. Unfortunately, CJD is currently considered untreatable, and the prognosis is generally poor, with most patients succumbing to the disease within a year of diagnosis.
Recent research has explored potential treatment options, but there is no definitive cure available yet. One of the most promising avenues involves the use of existing medications that have shown some efficacy in laboratory settings. For instance, a combination of quinacrine (an antimalarial drug) and chlorpromazine (an antipsychotic) has been studied for its potential to penetrate the blood-brain barrier and inhibit prion replication. In laboratory studies, these drugs have demonstrated the ability to suppress the infectivity of prions in neuroblastoma cells infected with scrapie prions.
In 2022, a notable case was reported involving a young woman in the UK who was treated with this combination therapy and showed significant neurological improvement. This case has sparked interest in conducting formal clinical trials to evaluate the efficacy and safety of these treatments in humans. However, as of now, quinacrine and chlorpromazine have not been approved for the treatment of CJD in many countries, including Taiwan, where the drug is still awaiting regulatory approval.
Currently, the best approach for patients diagnosed with CJD is supportive care, which focuses on managing symptoms and providing comfort. This includes pain management, nutritional support, and assistance with daily activities. Families often seek clinical trials or experimental treatments, but participation in such studies can be complex and may not guarantee access to new therapies.
For your father, it is understandable to hope for positive news, especially during significant occasions like Father's Day. While there are no approved treatments available at this time, the ongoing research into potential therapies provides a glimmer of hope for future advancements. It is essential to stay in close contact with healthcare providers who can offer the latest information on clinical trials and emerging treatments.
In summary, while there are no current treatments that can cure CJD, research is ongoing, and some experimental therapies show promise. Supportive care remains the cornerstone of managing this devastating disease. It is crucial to maintain open communication with healthcare professionals and stay informed about any new developments in the field. Your father's situation is undoubtedly challenging, and I hope that you can find comfort and support during this difficult time.
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