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A Natural History Study of Preclinical Genetic Creutzfeldt-Jakob Disease (CJD)

NCT05746715 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 126

Last updated 2023-02-28

No results posted yet for this study

Summary

Creutzfeldt-Jakob Disease (CJD) is the most common prion disease in humans causing a rapidly progressive neurological decline and dementia and is invariably fatal. The familial forms (genetic CJD, gCJD) are caused by mutations in the PRNP gene encoding for the prion protein (PrP). In Israel, there is a large cluster of gCJD cases, carriers of an E200K mutation in the PRNP gene, and therefore the largest population of at-risk individuals in the world. The mutation is not necessarily sufficient for the formation and accumulation of the pathological prion protein (PrPsc), suggesting that other, genetic and non-genetic factors affect the age at symptoms onset. Here we present the protocol of a cross-sectional and longitudinal natural history study of gCJD patients and first-degree relatives of gCJD patients, aiming to identify biological markers of preclinical CJD and risk factors for phenoconversion.

The study includes two groups: Patients diagnosed with gCJD, and first-degree healthy relatives (both carriers and non-carriers of the E200K mutation in the PRNP gene) of patients diagnosed with gCJD. At baseline, and at the end of every year (for 4 years), healthy participants are invited for an "in-depth" visit, which includes a clinical evaluation, blood and urine collection, gait assessment, brain MRI, lumbar puncture, and Polysomnography sleep lab (PSG). At 6 months from baseline, and then halfway through each year, participants are invited for a "brief" visit, which includes a clinical evaluation, short cognitive assessment, and blood and urine collection. gCJD patients will be invited for one "in-depth" visit, similar to the baseline visit of healthy relatives.

Conditions

  • Creutzfeldt-Jakob Disease (CJD)

Sponsors & Collaborators

  • Tel-Aviv Sourasky Medical Center

    lead OTHER_GOV

Principal Investigators

  • Noa Bregman, MD · Tel Aviv Medical Center

Eligibility

Min Age
50 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-06-01
Primary Completion
2028-12-30
Completion
2029-05-30

Countries

  • Israel

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05746715 on ClinicalTrials.gov