Observing the natural history of genetic Creutzfeldt-Jakob Disease
A Natural History Study of Preclinical Genetic Creutzfeldt-Jakob Disease (CJD)
This study is trying to learn more about genetic Creutzfeldt-Jakob Disease by looking at patients and their family members who carry a specific gene mutation to see how the disease develops and what might trigger symptoms.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 126 (estimated) |
| Ages | 50 Years and up |
| Sex | All |
| Sponsor | Tel-Aviv Sourasky Medical Center Government |
| Locations | 1 site (Tel Aviv) |
| Trial ID | NCT05746715 on ClinicalTrials.gov |
What this trial studies
This study focuses on understanding the natural history of genetic Creutzfeldt-Jakob Disease (gCJD) by examining patients diagnosed with gCJD and their first-degree relatives who carry the E200K mutation in the PRNP gene. It aims to identify biological markers of preclinical CJD and risk factors for the onset of symptoms. The study will involve both cross-sectional and longitudinal assessments to gather comprehensive data on the progression of the disease and its genetic influences.
Who should consider this trial
Good fit: Ideal candidates include first-degree relatives of E200K gCJD patients who are 50 years or older and willing to undergo genetic testing.
Not a fit: Patients with a clinical diagnosis of CJD or other significant neurological disorders may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to earlier detection and better understanding of genetic CJD, potentially improving patient outcomes.
How similar studies have performed: While studies on prion diseases exist, this specific focus on the E200K mutation and its preclinical markers is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * First--degree relative of an E200K gCJD patient. * Age 50 years or older at baseline. * Willingness to undergo genetic testing. * Ability to provide written informed consent under GCP, ICH, and local regulations. * Willingness and ability to comply with scheduled visits, required study procedures, and laboratory tests. Exclusion Criteria: * a clinical diagnosis of CJD * Any other medical or psychiatric condition or laboratory abnormality, which in the opinion of the investigator might preclude participation. * Previously obtained MRI scan with evidence of clinically significant neurological disorder other than CJD. * Current anticoagulant treatment (e.g Non-vitamin K Antagonist Oral Anticoagulants (NOACs), Warfarin, Low Molecular weight Heparin) that might preclude safe completion of LP. * Conditions that preclude the safe performance of LP, such as severe lumbar spinal disease, bleeding diathesis, or clinically significant coagulopathy or thrombocytopenia. * Conditions that preclude the safe performance of MRI scannings such as subjects who have a pacemaker, aneurysm clips, artificial heart valves, ear implants, metal fragments or foreign objects in the eyes, skin, or body, or any other known contra-indication for MRI. * Active malignant disease.
Where this trial is running
Tel Aviv
- Cognitive Neurology Unit — Tel Aviv, Israel (Recruiting)
Study contacts
- Principal investigator: Noa Bregman, MD — Tel Aviv Medical Center
- Study coordinator: Noa Bregman, MD
- Email: NOABR@TLVMC.GOV.IL
- Phone: +972527360163
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.