Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

Scientists hunt for clues to predict rare brain disease before symptoms strike

NCT ID NCT05124392

Knowledge-focused Sponsor: Massachusetts General Hospital Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 24, 2026 · Last updated Aug 14, 2026 · Updated 3 times

Summary

This study aims to find biological markers in spinal fluid and blood that could signal the start of prion disease before symptoms appear. Researchers will follow 150 people who carry a genetic mutation for prion disease, along with family members and healthy volunteers. Participants will undergo cognitive tests, blood draws, and lumbar punctures over time. The goal is to better predict when the disease will begin and help design future treatment trials.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could help predict when prion disease will start in people who carry the genetic mutation, enabling earlier treatment in future trials.
What could go wrong
This is an observational study, not a treatment trial. It may not find reliable biomarkers, and results may not apply to all forms of prion disease.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 150 people

The number the study aims to enrol. It can still change while the study runs.

Started

Dec 2017

Expected to finish

Jun 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

100 people ages 18-85 with history of genetic prion disease and 50 non-carrier healthy controls

Ages

18 to 85 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: 1. Aged 18 - 85, 2. 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 3. Medically safe to undergo blood draw, lumbar puncture and cognitive testing, 4. Adequate visual and auditory acuity to complete cognitive testing, 5. Fluent in English, 6. At least 5 years of education, 7. Capable of providing informed consent and following study procedures, Exclusion Criteria: 1. 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, 2. History of alcohol or other substance abuse or dependence within the past two years, 3. Any significant systemic illness or unstable medical condition or pregnancy that could represent safety risk or affect participation in the study, 4. 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.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for CJD (Creutzfeldt Jakob disease) are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

fatal familial insomnia Gerstmann-Straussler-Scheinker syndrome inherited Creutzfeldt-Jakob disease prion disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

CJD (Creutzfeldt Jakob disease) Familial fatal insomnia FFI GSS Prion diseases

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    1 site. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

Locations

  • Alzheimer's Clinical and Translational Research Unit

    RECRUITING

    Charlestown, Massachusetts, 02129, United States

    Contact Email: •••••@•••••

More trials for these conditions

Other studies related to the condition(s) this trial covers.