Volunteer for research to help fight prion disease
Prion Registry connects people affected by or at risk for prion disease with clinical studies that are currently enrolling participants.
Below is the current list of studies, split into clinical trials testing experimental drugs, versus observational studies collecting clinical data or samples without any experimental treatment. If one looks like a fit for you, reach out to the study team directly using the contact information provided — enrollment is handled by each study. This site is just a listing.
Last updated October 2026
Clinical Trials
PRiSM | PrP-targeting siRNA Safety & Mechanism Study (NCT07444580)
Status: Recruiting
An open-label, single ascending dose study evaluating the safety, tolerability, pharmacokinetics, and pharmacodynamics of intrathecally administered PrP-siRNA (a PrP-lowering drug) in adults diagnosed with symptomatic prion disease, and in pre-symptomatic adults at high genetic risk for prion disease. This is a first-in-human study. It includes a screening period of up to 3 weeks, administration of a single intrathecal (lumbar puncture) dose, and a 24-week follow-up period. Multiple dose levels will be tested. The trial also includes an observational arm in which symptomatic participants do not receive investigational drug and are instead followed for 8 weeks after baseline.
- Principal Investigator: Eric Minikel
- Study Sites: Massachusetts General Hospital, Boston, MA; University Hospitals Cleveland Medical Center, Cleveland, OH; Vanderbilt University Medical Center, Nashville, TN; Columbia University Irving Medical Center, New York, NY; Mayo Clinic, Rochester, MN
Who can participate:
Symptomatic patients:
- Clinically manifested symptoms of prion disease, in the opinion of the investigator
- A diagnosis of probable prion disease according to CDC criteria
- A positive CSF RT-QuIC or PRNP genetic test
- No more than moderate functional impairment (MRC-PDRS score ≥ 15)
- A caregiver available to assist with study procedures
Pre-symptomatic participants:
- Neurologically healthy, with no symptoms of prion disease
- A positive predictive genetic test showing a PRNP variant causing a high lifetime risk of prion disease
- 18 years of age or older
All participants: additional inclusion and exclusion criteria apply and are evaluated at screening (e.g., pregnancy, contraindication to lumbar puncture, recent participation in a different prion disease trial).
To learn more or enroll: Visit NCT07444580, or contact priontrials@broadinstitute.org.
PrProfile | A Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ION717 (NCT06153966)
Status: Not Recruiting
A Phase 1/2a, first-in-human, randomized, multi-center study of intrathecally administered ION717 in participants with prion disease. Eligible participants receive ION717 and placebo, with dose order randomized and blinded to participants, study sites, and the sponsor. The study consists of a screening period of up to 6 weeks, a 24-week double-blind treatment period, and a 36-week post-treatment period. Multiple dose levels were tested.
- Sponsor: Ionis Pharmaceuticals, Inc.
- Study Sites: Multiple
Who can participate (enrollment is closed; criteria shown for reference):
- A confirmed diagnosis of probable or definite prion disease
- Early-stage prion disease at the time of screening
- Willing to meet all study requirements, including travel to the study center, procedures, measurements, and visits
- A caregiver 18 years or older able and willing to facilitate the patient’s involvement for the duration of the trial
- Aged 18 or older at the time of informed consent
To learn more: Visit NCT06153966 or read Ionis community statement.
ALN-6457 | A Trial of ALN-6457 in Adult Participants With Symptomatic Prion Disease (NCT07832370)
Status: Not Recruiting
A Phase 1/2, open-label trial with extended follow-up evaluating the safety, tolerability, pharmacokinetics, pharmacodynamics, and efficacy of multiple doses of ALN-6457, an investigational siRNA drug designed to reduce the amount of prion protein made in the brain, in adults with symptomatic prion disease (sporadic CJD or genetic prion disease). The trial has not yet begun enrolling and no study sites have been posted.
- Sponsor: Regeneron Pharmaceuticals
- Study Sites: not yet posted
Who can participate (once the trial opens):
- A diagnosis of sporadic CJD, or of genetic prion disease, as defined in the protocol
- Body mass index (BMI) under 35 kg/m² at the screening visit
- Able to understand and complete trial-related questionnaires at screening
- 18 years of age or older
Not eligible if: a significant cardiovascular, respiratory, hepatic, renal, gastrointestinal, endocrine, hematological, psychiatric, or neurological condition (other than prion disease) that could confound results or pose added risk; a history of brain or spinal disease/injury that would interfere with lumbar puncture or CSF circulation; a contraindication to brain MRI; an allergy or intolerance to local anesthetics; a current bleeding disorder that would increase risk during lumbar puncture; a progressing or actively treated malignancy; or a suicide attempt or suicidal ideation with a plan requiring hospital admission or a change in level of care within the past 12 months. Additional protocol-defined criteria apply.
To learn more: Visit NCT07832370, or contact Regeneron’s Clinical Trials Administrator at 844-734-6643 or clinicaltrials@regeneron.com.
Observational Studies
OBSERVE | Biomarkers in Individuals at Risk for Prion Disease (NCT05124392)
Status: Recruiting
This study aims to lay the groundwork to test future prion disease therapeutics in people at risk for genetic prion disease — before they ever experience symptoms. Potential volunteers first have a phone conversation with the study team to answer questions, confirm eligibility, and collect baseline information. Eligible participants who enroll have annual visits to Massachusetts General Hospital in Boston, MA, 9–12 months apart. Visits take place over 1.5 days and include a routine physical exam, health questionnaires, lumbar puncture, blood draw, brain imaging, cognitive tests, and gait analysis. Eligible participants receive compensation and travel assistance. All participation is voluntary.
- Principal Investigator: Steven Arnold
- Study Site: Massachusetts General Hospital, Boston, Massachusetts, USA
Who can participate: you may be eligible if any of the following apply to you —
- A family history of genetic prion disease, including genetic Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), or Gerstmann-Sträussler-Scheinker syndrome (GSS). You do not need to know your own genetic status to participate.
- You have received predictive testing indicating that you are at risk for one of the above diseases.
In addition, participants must be between the ages of 18 and 85, and fluent in English.
To learn more or enroll: see the study flyer (PDF), contact MGHPrionStudy@partners.org, or call 617-726-4026.
TAPCJD | Teleneurology Assessment Program for CJD (NCT07840547)
Status: Recruiting
Recruiting individuals who are suspected of having a prion disease and have at least one diagnostic study suggestive of the condition (e.g., cerebrospinal fluid, brain MRI, or electroencephalogram). The study involves approximately monthly telemedicine visits with the patient and a study partner. Participants share their medical and family history and complete assessment instruments (e.g., memory testing, physical examination) using their own computer, phone, or tablet — similar to a video call. The goal is to collect standardized clinical data to help improve diagnosis, surveillance, and knowledge of these conditions.
- Principal Investigator: Brian Appleby
- Study Site: University Hospitals Cleveland Medical Center, Cleveland, Ohio, USA
Who can participate: individuals who are suspected of having a prion disease and have at least one diagnostic study suggestive of the condition (e.g., cerebrospinal fluid, brain MRI, or electroencephalogram).
To learn more or enroll: Visit NCT07840547 or the TAPCJD home page, contact Katie Glisic (Katie.Glisic@uhhospitals.org) or call 216-368-0587.
PROSPECT | Registry for Individuals at Risk for Genetic Prion Disease (NCT07732608)
Status: Recruiting
PROSPECT is a prospective observational registry and longitudinal natural history study of adults at risk for genetic prion disease. It is open both to people who are known carriers of a PRNP genetic variant and to those who are at risk of inheriting a variant based on family history. Participants who have not already undergone genetic testing will do so as part of the study, using an at-home saliva collection kit mailed in to extract DNA. Participants will undergo at least one session of genetic counseling but are not required to learn their genetic status to participate. The study follows people annually over videoconference and involves standardized surveys taking approximately one hour. The goal is to help determine the lifetime risk and age of onset associated with each genetic variant, in order to enable clinical trials and the development of preventive drugs. This is an open data study: de-identified data will be shared with other researchers and with sponsors developing drugs and running clinical trials.
- Principal Investigator: Brian Appleby, MD
- Study Site: Fully remote / University Hospitals Cleveland Medical Center, Cleveland, OH, USA
Who can participate:
- Age 18 years or older
- A known PRNP genetic variant, or at risk for genetic prion disease based on family history (a known PRNP variant in the family, or two affected family members without a known variant)
- Willing to comply with all study procedures, including genetic testing and longitudinal follow-up
- Resident in the United States
- Sufficiently proficient in English to participate in all study procedures
Not eligible if: lacking capacity to independently consent at initial enrollment, symptomatic of prion disease at initial enrollment, or unable to provide a backup contact.
To learn more or enroll: contact Meg Verba at Margaret.Verba@uhhospitals.org or call 216-368-2062.
Early Diagnosis and Longitudinal Assessment of Human Prion Diseases and Other Rapidly Progressive Neurological Conditions
Status: Recruiting
The primary goal of this study is to develop and test methods for differentiating Creutzfeldt-Jakob disease (CJD) from other diseases and to learn how to diagnose CJD as early as possible. A secondary goal is to learn more about how CJD and other rapid neurological conditions progress by studying these diseases in each patient over time. Because CJD is rare and very rapidly progressive, diagnosis is often made very late in the illness — and if future treatments are to succeed, they will likely need to be given as early as possible.
- Principal Investigator: Michael Geschwind
- Study Site: Memory and Aging Center, University of California San Francisco (UCSF), San Francisco, California, USA
- No ClinicalTrials.gov registration found for this natural-history study as of this writing.
Who can participate: research subjects must fulfill WHO Revised Criteria for CJD, have a family history of familial human prion disease (fCJD, FFI, GSS), or have a history of progressive neurologic decline resulting in dementia or significant functional impairment from the patient’s baseline over two years or less from symptom onset. An informant with frequent contact with the subject must be available to provide information. Those unable to undergo MRI due to a contraindication (e.g., pacemaker, pregnancy) are not eligible.
To learn more or enroll: contact cjdstudies@ucsf.edu or call 415-476-8791.
Tracking Longitudinal Change in Presymptomatic Genetic Prion Disease
Status: Recruiting
The main goal of this project is to identify and develop biomarkers to be used in treatment trials for presymptomatic genetic prion disease (gPrD) — including familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI), and related conditions. Presymptomatic individuals from families with gPrD are ideal candidates for therapeutic trials aimed at delaying or preventing onset.
- Principal Investigator: Michael Geschwind
- Study Site: Memory and Aging Center, University of California San Francisco (UCSF), San Francisco, California, USA
- No ClinicalTrials.gov registration found for this natural-history study as of this writing.
Who can participate: people with a known PRNP mutation, people from a family with gPrD who do not carry a PRNP mutation, and people at risk for gPrD (no PRNP genetic testing, but from a family with gPrD). A study partner with frequent contact with the participant must be available to provide information.
To learn more or enroll: contact cjdstudies@ucsf.edu or call 415-476-8791.
FAQ
What happened to the old site?
From 2017 to 2026, PrionRegistry was an IRB-approved registry study and an interactive site where participants interested in research could create an account, log in, answer survey questions, and provide consent to recontact. As of 2026, that registry study has been sunsetted and this website no longer offers a login or interactive element. It has been converted to the flat study listing page you see above. Participants at risk for genetic prion disease are encouraged to enroll in PROSPECT (listed above). It is expected that studies for symptomatic participants will recruit primarily through surveillance centers, clinical referral networks, patient organizations, and study listings like this one.
I still have more questions!
Contact us at info@prionregistry.org.