Ignite Creation Date:
2024-05-06 @ 6:40 PM
Last Modification Date:
2024-10-26 @ 2:52 PM
Study NCT ID:
NCT05746715
Status:
RECRUITING
Last Update Posted:
2023-02-28
First Post:
2023-02-15
Brief Title:
A Natural History Study of Preclinical Genetic Creutzfeldt-Jakob Disease CJD
Sponsor:
Tel-Aviv Sourasky Medical Center
Organization:
Tel-Aviv Sourasky Medical Center
Study Overview
Official Title:
A Natural History Study of Preclinical Genetic Creutzfeldt-Jakob Disease CJD
Status:
RECRUITING
Status Verified Date:
2023-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
NHS_CJD
Brief 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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None