We are proud to announce that Prion Alliance has sponsored a clinical research study now launching at Massachusetts General Hospital (MGH), with the goal of enabling preventive clinical trials in genetic prion disease. This study is a collaboration between our team at the Broad Institute and Dr. Steven Arnold, Dr. Aaron Koenig, and their clinical team at MGH, and is being funded by your generous donations to Prion Alliance.

Note that this is not a clinical trial and participants will not be receiving any drugs intended to treat prion disease.

What is the goal of this study?

Our goal is to lay the groundwork to test future prion disease therapeutics in people at risk for genetic prion disease — before they ever experience symptoms.

Before misfolded, disease-causing prions ever form, the normal prion protein is present in the brain, in all of us. There is strong evidence that reducing levels of this normal prion protein with a drug, if such a drug were to be developed, would delay the onset of genetic prion disease.

There is also strong evidence that such a drug would be most effective if given to at-risk individuals before they experienced symptoms. But to test a drug in this group, we need a way to measure whether it is having its intended effect, without relying on symptoms. Therefore, we are gathering data on prion protein levels in cerebrospinal fluid (CSF). We already know that prion protein can be measured in CSF. Now we need to understand more about how stable it is over time in order to understand how well we could measure a drug-dependent reduction. And we need to gather data from the population that we would someday hope to treat.

Who is eligible to participate?

You may be eligible for this study if any of the following apply to you:

  • Have a family history of genetic prion disease, including genetic Creutzfeld-Jakob Disease (CJD), fatal familial insomnia (FFI), or Gerstmann-Straussler-Scheinker syndrome (GSS). Note: you do not need to know your genetic status to participate.
  • Have received predictive testing indicating that you are at risk for one of the above diseases.
  • Are from a genetic prion disease family, though not at risk yourself
  • Wish to volunteer as a control

In addition, participants must be:

  • Between the ages of 18 and 85
  • Fluent in English

What does participation involve?

Potential volunteers first have a phone conversation with the study team to answer any questions, confirm eligibility, and collect some baseline information. For eligible individuals who decide to participate, the study involves two visits to Massachusetts General Hospital in Boston, MA, with an interval between visits of 8-16 weeks.

The study visits would include the following components, performed over 1.5 days:

  • Routine physical exam
  • Health questionnaires
  • Lumbar puncture
  • Blood draw
  • Brain imaging scans
  • Cognitive tests
  • Eligible participants will receive compensation and financial assistance with travel costs. All participation is strictly voluntary.

Who should I contact to learn more or volunteer?

Contact the study staff at MGHPrionStudy@partners.org or 617-726-4026.

See the current study flyer for up-to-date eligibility and participation information.