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Answers to commonly asked questions about prion diseases.

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At the present time, there is no confirmed effective treatment to arrest or cure CJD. Currently, the disease is inevitably fatal. The only treatments available for CJD patients focus on easing their symptoms and discomfort. Such measures may include drugs to control distress, myoclonus and hallucinations, catheters to collect urine, intravenous fluids and frequent repositioning of the patient to avoid bedsores.

Families are encouraged to contact hospice once they receive a diagnosis of CJD. Hospice can help keep the patient comfortable through the various stages of the disease and can rapidly adjust caregiving approaches at each stage; one example is providing pureed foods and liquid thickeners.

Researchers have experimented with drugs like doxycycline, prograf, quinacrine, pentosan polysulphate, chlorpronazine and flupertine as potential therapies for CJD. Scientists are also examining the use of certain antibodies for the prevention and treatment of prion diseases. The development of a vaccine is also being studied.

Prion diseases are not infectious in the usual way. For example, they are not spread by airborne droplets like colds and flu, or by body fluids or sexual contact like HIV. The overall evidence suggests that there is no increased risk of developing CJD from contact with a person suffering from the condition. Special precautions are not required by anyone coming into contact with a CJD patient, however, it is sensible for anyone who might be exposed to the blood of a CJD patient to wear gloves and take standard precautions. For more information from the Centers for Disease Control and Prevention (CDC), click here.

For a layman’s explanation of a recently reported study, click here.

Each individual case of CJD can be assigned to one of three forms: sporadic, genetic, or acquired (variant or iatrogenic). The diagnostic methods may vary depending on the type. In sporadic CJD, the spinal fluid test has improved the diagnostic accuracy while the patient is alive, and it is now included as one of the diagnostic criteria along with the electroencephalogram (EEG) and MRI.

Spinal fluid and MRI have become increasingly reliable methods of diagnosing classic CJD. In recent years, RT-QuIC has been developed and fine-tuned to detect CJD with sensitivity and specificity in the high 90 percentile. Recent studies have identified methods of reaching virtually 100% accuracy through RT-QuIC. MRI images, when reviewed by a neuroradiologist trained to detect CJD, can also be very accurate indicators of CJD. Examination of brain tissue is the only known method of detecting CJD with 100% certainty. While brain biopsy is an option, it is not recommended for CJD patients unless used to rule out other treatable conditions (and biopsy could potentially miss affected areas of the brain). Full brain biopsy post mortem is recommended to confirm any prion disease diagnosis, as well as to determine the subtype and to determine whether the disease is a genetic form. (Note: In the U.S., RT-QuIC is available only from through the National Prion Disease Pathology Surveillance Center. For information on RT-QuIC, second opinions on MRIs, and full brain autopsy, contact our HelpLine, or follow this link for the latest news reported in the Annals of Neurology.)

However, the only way to currently be sure of the diagnosis is by brain biopsy or autopsy. In genetic CJD, the diagnosis depends on development of particular neurological symptoms and the identification of a PrP gene mutation by genetic analysis. In acquired CJD, iatrogenic CJD is diagnosed on the basis of symptoms developing in someone with a relevant exposure. In vCJD, diagnosis is very difficult while the patient is alive, unless the diagnosis of vCJD is suspected and tonsil biopsy is carried out. An MRI scan may prove to be useful, however, a definitive diagnosis depends on examination of brain tissue or lymphoreticular tissue such as the tonsils.

When it became evident in the mid 1990s that a significant proportion of plasma pools used in the production of therapeutic protein derivatives were “contaminated” by donations from individuals who later died of sporadic CJD, regulatory agencies responded with guidance about quarantine and/or destruction of implicated product lots. These precautions were based upon laboratory evidence that low levels of infectivity were present in blood during both the incubation and clinical phases of disease in experimental rodent models.

However, it was also noted that there was a serious discrepancy between the experimental data and epidemiological observations that, although anecdotal, failed to identify any instance of a human case of sCJD that could be traced to blood or blood products. With the passage of time, systematically collected epidemiological data substantiated the absence of sCJD transmissions in blood recipients, and began to weigh more heavily on the perception of risk to humans. Although it was finally decided that any such risk was negligible and plasma pools were no longer discarded, upon knowledge of a contributing CJD donor, new evidence from the U.K. shows a transmission risk from vCJD cases, although deferrals designed to eliminate “high risk” donor categories, such as human growth hormone and dura mater recipients remained in force.

Follow this link for Blood & Organ Donation Information for Families from the American Red Cross

The risk of contracting CJD from organ transplants is not known with certainty, with the possible exception of a case of CJD occurring after liver transplant (Creange et al Ann. Neurol. 1995), there are no reported instances in which such an event has occurred. As for tissue, there is only a single known instance in 1972 in which a transplant was proven to be the cause of disease from a corneal donor who had died of undiagnosed CJD. In the past 30-40 years, we know of one case in which a CJD patient had some years earlier received a bone transplant and it was investigated in detail. None of more than two dozen other individuals who had received transplants from the same donor ever developed the disease. In the second case, corneal and scleral tissue from a patient with unrecognized CJD were used for grafting procedures in three individuals, none of whom developed the disease. Although the tissue banking community is perhaps less well regulated than the blood banking community, everyone is much more aware today than in the past of the small but finite risks involved with tissue transfers, and donor criteria have been strengthened. In the vast majority of cases, the benefit of having the transplant far outweighs the risk of contracting CJD from a donor who has no symptoms but could be in the incubation period for CJD. Note also that there is a risk of infection in any transplant. *

* Paul Brown, MD, Former Senior Researcher, NIH

Click on this link for Blood & Organ Donation Information for Families from the American Red Cross

A lumbar puncture is performed with a single use kit which is destroyed after the test, so there is no risk of CJD transmission through spinal tap.

Instruments used on the brain or nervous tissue of someone known to have or suspected of having CJD must be destroyed. Ideally, single use disposable instruments should be used.

Clinical observation of people in the later stages of CJD indicates that they lose awareness of their condition as the disease progresses. Obviously this saves them, but not their families, from suffering. However, in the early stages, patients with CJD can develop marked fear which can be very distressing and is probably associated with visual hallucinations. They may feel discomfort, and some of the symptoms of the disease such as myoclonus are distressing to caregivers. Neurologists believe there is no pain associated with the disease itself. For example, there is no rise in pressure in the head which could cause headache or any other obvious cause of pain.

Assistance from hospice should be sought to ensure the patient is kept as comfortable as possible.

Post-mortem examination is not mandatory in the U.S. but is recommended to give the family the answers they need. When CJD is suspected, the doctor will need the permission of the legal next of kin. An autopsy helps the family to know the definite cause of death, including the disease subtype and whether it could be a genetic form. Furthermore, autopsy examination to confirm the diagnosis of CJD helps protect public health and makes tissue available for research. The NPDPSC, in cooperation with the Centers for Disease Control and Prevention (CDC), examines tissue from as many cases as possible of suspected CJD in order to confirm or exclude the diagnosis of prion disease. The purpose of the NPDPSC is to detect, in a timely manner, the presence of atypical cases in the U.S. such as human cases of prion disease acquired from animals, i.e. BSE infected beef, deer and elk, and monitor the number and distribution of cases of prion disease in the U.S. to identify other possible sources of infection such as the use of contaminated surgical instruments or tissue implants. Tissue examination from as many cases as possible is needed for the NPDPSC to provide effective surveillance. The NPDPSC provides a free autopsy to any suspected case of CJD. For more information, contact the NPDPSC at 216-368-0587.*

* Brian Appleby, M.D., Director, National Prion Disease Pathology Surveillance Center

The number cases of sporadic CJD in the United States have been slightly increasing over time, but remains consistent with an aging population and improved diagnostic tests (e.g., brain MRI and CSF RT-QuIC). 

For more information, view the National Prion Disease Pathology Surveillance Center’s Table of Cases Examined (updated quarterly) or the Centers for Disease Control and Preventions’ index entry on Classic Creutzfeldt-Jakob Disease.

At present, there is no way of protecting people from sporadic CJD. Iatrogenic CJD can be prevented by destroying surgical instruments that have been used on people suspected of having CJD, and by not using their organs for transplant.

Yes, public and private institutions and government agencies around the world are engaged in researching all aspects of CJD for the ultimate purpose of finding the means for preventing, treating and curing this disease.

Among the many areas being studied are the unique nature of the infectious agent and how it destroys the brain. Scientists are also trying to ascertain which factors affect infectivity, susceptibility to disease and the onset of symptoms. Many researchers are trying to develop new, reliable diagnostic tests that can detect the disease before symptoms of the disease occur. Such pre-clinical tests in people can be useful, not only for the development of therapies before significant damage occurs, but also to ensure the safety from transmissible agents to blood, blood products, organs and surgical instruments.

Each year, hundreds of researchers gather somewhere in the world for the international Prion conference (in 2016, in Tokyo, Japan; in 2017, in Edinburgh, Scotland).  These scientists and their colleagues around the world collaborate regularly on studies seeking to understand the science of prion diseases, and improve diagnosis and treatment.  The CJD Foundation sponsors research each year, funding the most promising of the proposed studies reviewed by the Foundation’s Scientific Advisory Committee.

Brian Appleby, MD, Medical Director, CJD Foundation, and Director, National Prion Disease Pathology Surveillance Center discusses this during the 2021 Virtual Conference Keynote session. Learn More.

Brian Appleby, MD, Medical Director, CJD Foundation, and Director, National Prion Disease Pathology Surveillance Center discusses this during the 2021 Virtual Conference Keynote session. Learn More.