Observing the natural history of genetic Creutzfeldt-Jakob Disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Teleneurology assessment for Creutzfeldt-Jakob disease

  This study tests how well remote videoconference visits work to track adults with Creutzfeldt-Jakob disease over time, with input from a trusted study partner.

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• Identifying biomarkers in individuals at risk for prion disease

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• Efavirenz for Creutzfeldt-Jakob Disease (CJD)

  This study tests whether efavirenz can help people with Creutzfeldt-Jakob disease compared with a placebo, across multiple centers.

  Recruiting Phase 3 Xuanwu Hospital, Beijing · Beijing · NCT07482085

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.