Summary

Eligibility
for people ages 18-85 (full criteria)
Healthy Volunteers
healthy people welcome
Location
at San Francisco, California and other locations
Dates
study started
estimated completion
Principal Investigator
by Adam Boxer, MD, PhDHowie Rosen, MD
Photo of Adam Boxer
Adam Boxer
Photo of Howie Rosen
Howie Rosen

Description

Summary

This is a biomarker study designed to collect and analyze blood specimens from individuals carrying known familial frontotemporal lobar degeneration (f-FTLD) mutations compared to a control group of individuals without known f-FTLD mutations. The NSP is an ancillary study to the ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration" (ALLFTD) study, NCT04363684. More information can be found at https://www.allftd.org/.

Official Title

Remote Blood Biomarker Monitoring in Frontotemporal Lobar Degeneration: Neurofilament Surveillance Project (NSP)

Details

Frontotemporal Lobar Degeneration (FTLD), a group of clinically heterogeneous neurodegenerative diseases characterized by progressive deterioration of the frontal and temporal cortices as well as basal ganglia and brainstem structures, is a common cause of neurodegenerative dementia in people who are less than 60 years old at onset. It is uniformly fatal. FTLD is a rare disease, with an estimated prevalence of approximately 5-22 per 100,000. There are no approved treatments, however several investigational agents are in human trials and a variety of novel agents are poised to enter human development. Experience from other neurodegenerative diseases suggests that potential disease modifying treatments are most likely to be efficacious if initiated before the onset of symptoms.

Approximately 25% of FTLD cases are familial (f-FTLD) and due to autosomal dominant mutations in one of three genes: C9orf72, progranulin (GRN) or microtubule associated protein tau (MAPT). Many of the new therapies entering the clinic directly target one of these genetic causes and raise the possibility that the clinical features of FTLD could be delayed or prevented in these individuals if an efficacious therapy was initiated prior to the onset of symptoms. The major barrier to determining efficacy of novel therapeutic agents for f-FTLD in such prevention trials is the lack of an endpoint that can indicate therapeutic efficacy prior to the onset of symptoms. Our preliminary data strongly suggest that plasma neurofilament light chain (NfL) could serve as such a biomarker.

This non-interventional study is in preparation for pivotal clinical trials. Up to 335 participants will provide blood remotely via visits from traveling mobile research nurses four times a year for three years (4355 samples total) to enable the observation of peripheral NfL levels longitudinally during disease onset and progression, with the ultimate goal of qualifying plasma NfL as an endpoint for f-FTLD prevention trials. The NSP study is an ancillary study to ALLFTD, and biomarker data collected in the NSP will be correlated with ALLFTD clinical data. More information on the NSP study may be found at https://www.allftd.org/nsp.

Keywords

Frontotemporal Dementia Frontotemporal Lobar Degeneration FTD-GRN C9orf72 GRN MAPT Aphasia, Primary Progressive Pick Disease of the Brain f-FTLD mutation carriers

Eligibility

You can join if…

Open to people ages 18-85

  1. Male or female
  2. Ages 18-85
  3. Provision of signed and dated informed consent form
  4. Stated willingness to comply with all study procedures and availability for the duration of the study
  5. Is enrolled in ALLFTD
  6. Is a member of a family with a known mutation in C9orf72, GRN or MAPT

You CAN'T join if...

  1. Any permanent contra-indication to repeated blood draws, such as poor venous access.
  2. Any conditions or circumstances which, in the opinion of the investigator, would not allow participation in the study.

Locations

  • University of California, San Francisco not yet accepting patients
    San Francisco California 94158 United States
  • Mayo Clinic accepting new patients
    Rochester Minnesota 55905 United States

Lead Scientists at UCSF

  • Adam Boxer, MD, PhD
    Adam L. Boxer, MD, PhD is Endowed Professor in Memory and Aging in the Department of Neurology at the University of California, San Francisco (UCSF). He directs UCSF’s Neurosciences Clinical Research Unit and the Alzheimer’s Disease and Frontotemporal Degeneration (FTD) Clinical Trials Program at the UCSF Memory and Aging Center.
  • Howie Rosen, MD
    Professor, Neurology. Authored (or co-authored) 262 research publications.

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
The Bluefield Project to Cure Frontotemporal Dementia
ID
NCT04516499
Study Type
Observational
Last Updated