CJD (Creutzfeldt Jakob Disease)NCT05124392
OBSERVE: Biomarkers in Individuals at Risk for Prion Disease
An observational study of CJD (Creutzfeldt Jakob Disease) and Prion Diseases, run by Massachusetts General Hospital at 1 site in United States.
Trial summary
We are doing this research to identify biomarkers in individuals who are at-risk for familial prion disease. We hope to use these biomarkers to predict timing of disease onset in pre-symptomatic individuals and to guide the direction of future clinical trials. Read more about this study
- Who is it for?
- Ages 18 to 85 years
- Conditions the study is for
- CJD (Creutzfeldt Jakob Disease), Prion Diseases, GSS
- How many people
- 150 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Dec 2017to 1 Jun 2027
- How long will I take part?
- 8 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 85 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: 100 people ages 18-85 with history of genetic prion disease and 50 non-carrier healthy controls
Who may be able to join
- Aged 18 - 85,
- One of the following:
- a. Known carrier of pathogenic PRNP mutation
- b. History of probable or definite prion disease in biological parent and other family members
- c. Non-carrier family members and/or unrelated previously enrolled negative control volunteers
- Medically safe to undergo blood draw, lumbar puncture and cognitive testing,
Show all 10Show fewer
- Adequate visual and auditory acuity to complete cognitive testing,
- Fluent in English,
- At least 5 years of education,
- Capable of providing informed consent and following study procedures,
Who cannot join
- Any CNS disease other than asymptomatic or early prion disease, such as clinical stroke, brain tumor, multiple sclerosis, significant head trauma with persistent neurological or neurocognitive deficits, Alzheimer's disease, Parkinson's disease, frontotemporal lobar degeneration or other known neurodegenerative disease,
- History of alcohol or other substance abuse or dependence within the past two years,
- Any significant systemic illness or unstable medical condition or pregnancy that could represent safety risk or affect participation in the study,
- Coagulopathy or anti-coagulant therapy (such as Coumadin) increasing the risk for phlebotomy or lumbar puncture resulting in PT/PTT and INR within 1.5 standard deviation over the upper normal limit.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Alison McManus, DNP contact
United States1 site, 1 recruiting
- Recruiting
Alzheimer's Clinical and Translational Research Unit
Charlestown, Massachusetts, 02129
Sophia D'Alessandro, 617-726-4026, MGHPrionStudy@partners.org
Alison McManus, DNP, 6176434848, AJMCMANUS@mgh.harvard.edu
About this study
We are doing this research to identify biomarkers in individuals who are at-risk for familial prion disease. We hope to use these biomarkers to predict timing of disease onset in pre-symptomatic individuals and to guide the direction of future clinical trials.
Read the detailed description
This study aims to measure biomarkers longitudinally in individuals at risk of developing genetic prion disease to identify clinical assays and molecular markers that: can inform our understanding of pre-clinical pathology, predict timing of disease onset in pre-symptomatic individuals, and enable development and evaluation of novel treatment efficacy in pre-symptomatic or early symptomatic individuals.
Participation in the study involves annual visits to the clinic site in Charlestown, MA. Study visits include: a medical exam, blood draws, cognitive tests and questionnaires, and spinal fluid collection.
Travel support and stipend is provided for interested individuals.
- Medical subject headings
- Insomnia, Fatal Familial, Prion Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Individuals with a family history of Prion disease | Individuals with a family history of Prion disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
CSF YKL40
Levels of YKL40
Measured: 1 year
CSF Tau
Levels of Tau
Measured: 1 year
CSF Nfl
Levels of Nfl
Measured: 1 year
CSF GFAP
Levels of GFAP
Measured: 1 year
CSF Prion protein
Levels of Prion protein
Measured: 1 year
CSF Prion biomarkers
RT-QuIC levels
Measured: 1 year
Cognition
NIH Toolbox measures of cognition
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Nov 2021
- Study start1 Dec 2017
- Primary completion1 Jun 2027 (estimated)
- Study completion1 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for CJD (Creutzfeldt Jakob Disease)Studies of the same condition, open and under way.
- More trials run by Massachusetts General HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 150 participants (estimated)
- Target duration
- 8 Years
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Broad Institute of MIT and Harvard
- Responsible party
- Principal investigator, Steven E Arnold, MD, Massachusetts General Hospital
- Investigators
- Steven E Arnold, MD, Principal investigator, MGH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05124392
- Sponsor's protocol ID
- 2017P000214
- Status last verified
- Aug 2026
- First submitted
- 27 Oct 2021
- Last updated
- 13 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: No plan
Publications
Vallabh SM, Mortberg MA, Allen SW, Kupferschmid AC, Kivisakk P, Hammerschlag BL, Bolling A, Trombetta BA, Devitte-McKee K, Ford AM, Sather LE, Duffy G, Rivera A, Gerber J, McManus AJ, Minikel EV, Arnold SE. Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion. Neurology. 2024 Jul 23;103(2):e209506. doi: 10.1212/WNL.0000000000209506. Epub 2024 Jun 19.
PubMed 38896810
Study at a glance
From the registry record, last updated by the sponsor on 13 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- OBSERVE: Biomarkers in Individuals at Risk for Prion Disease
- ClinicalTrials.gov ID
- NCT05124392
- Acronym / sponsor ID
- 2017P000214
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Collaborators
- Broad Institute of MIT and Harvard
- Study start
- 1 Dec 2017 (actual)
- Primary completion
- 1 Jun 2027 (estimated)
- Study completion
- 1 Jun 2027 (estimated)
- First posted
- 18 Nov 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
We are doing this research to identify biomarkers in individuals who are at-risk for familial prion disease. We hope to use these biomarkers to predict timing of disease onset in pre-symptomatic individuals and to guide the direction of future clinical trials.
Detailed description
This study aims to measure biomarkers longitudinally in individuals at risk of developing genetic prion disease to identify clinical assays and molecular markers that: can inform our understanding of pre-clinical pathology, predict timing of disease onset in pre-symptomatic individuals, and enable development and evaluation of novel treatment efficacy in pre-symptomatic or early symptomatic individuals.
Participation in the study involves annual visits to the clinic site in Charlestown, MA. Study visits include: a medical exam, blood draws, cognitive tests and questionnaires, and spinal fluid collection.
Travel support and stipend is provided for interested individuals.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 8 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Individuals with a family history of Prion disease | – | –Individuals with a family history of Prion disease |
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 100 people ages 18-85 with history of genetic prion disease and 50 non-carrier healthy controls
Key inclusion criteria (10 listed)
- Aged 18 - 85,
- One of the following:
- Medically safe to undergo blood draw, lumbar puncture and cognitive testing,
- Adequate visual and auditory acuity to complete cognitive testing,
- Fluent in English,
Key exclusion criteria (4 listed)
- Any CNS disease other than asymptomatic or early prion disease, such as clinical stroke, brain tumor, multiple sclerosis, significant head trauma with persistent neurological or neurocognitive deficits, Alzheimer's disease, Parkinson's disease, frontotemporal lobar degeneration or other known neurodegenerative disease,
- History of alcohol or other substance abuse or dependence within the past two years,
- Any significant systemic illness or unstable medical condition or pregnancy that could represent safety risk or affect participation in the study,
- Coagulopathy or anti-coagulant therapy (such as Coumadin) increasing the risk for phlebotomy or lumbar puncture resulting in PT/PTT and INR within 1.5 standard deviation over the upper normal limit.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
CSF YKL40
Time frame: 1 year
Levels of YKL40
CSF Tau
Time frame: 1 year
Levels of Tau
CSF Nfl
Time frame: 1 year
Levels of Nfl
CSF GFAP
Time frame: 1 year
Levels of GFAP
CSF Prion protein
Time frame: 1 year
Levels of Prion protein
CSF Prion biomarkers
Time frame: 1 year
RT-QuIC levels
Cognition
Time frame: 1 year
NIH Toolbox measures of cognition
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Aug 2026.
- Derived from this study: PubMed 38896810Vallabh SM, Mortberg MA, Allen SW, Kupferschmid AC, Kivisakk P, Hammerschlag BL, Bolling A, Trombetta BA, Devitte-McKee K, Ford AM, Sather LE, Duffy G, Rivera A, Gerber J, McManus AJ, Minikel EV, Arnold SE. Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion. Neurology. 2024 Jul 23;103(2):e209506. doi: 10.1212/WNL.0000000000209506. Epub 2024 Jun 19.
- Individual participant dataSharing planned: No. No plan
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alison McManus, DNP contact
Steven E Arnold, MD principal investigator
MGH
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of CJD (Creutzfeldt Jakob Disease) and Prion Diseases, run by Massachusetts General Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sophia D'Alessandro (617-726-4026, MGHPrionStudy@partners.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
CSF YKL40 (time frame: 1 year). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05124392, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Aug 2026.