Neurofilament Surveillance Project (NSP)

NCT04516499 | Active Not Recruiting

• 1 other identifier: NSP001
• Study Type: observational
• Target: 342
• Locations: 1 country
• Sites: 8

Brief 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/.

Conditions

Frontotemporal Dementia; Frontotemporal Lobar Degeneration; FTD-GRN; FTD; FTLD

Keywords

C9orf72; GRN; MAPT

Outcome Measures

Primary Outcomes (1)

• Neurofilament Light Chain Levels

  To determine the longitudinal stability of plasma neurofilament light chain (NfL) measured every 3 months for 36 months in individuals at-risk for symptomatic FTLD

  36 months

Secondary Outcomes (2)

• Intersubject variability of plasma NfL measurements

  36 months

• Logistics measure

  36 months

Other Outcomes (2)

• Clinical and MRI correlates

  36 months

• Other biomarker evaluation

  36 months

Study Arms (2)

f-FTLD mutation carriers

All participants must be from a family with f-FTLD mutations. The f-FTLD mutation carrier group members will have their genetic status tested and included in this group if a f-FTLD mutation is observed. Participants do not need to know or be told their genetic status.

Non-mutation carriers from families with f-FTLD mutations

All participants must be from a family with f-FTLD mutations. The non-mutation carrier group members will have their genetic status tested and included in this group if they do not have a f-FTLD mutation. Participants do not need to know or be told their genetic status.

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study is an ancillary study to ALLFTD. Thus, all NSP participants will be recruited directly from the longitudinal arm of ALLFTD. Roughly equivalent numbers of participants will be enrolled from each of the following groups: * Members of families with known mutations in C9orf72 * Members of families with known mutations in GRN * Members of families with known mutations in MAPT Although participant must be from a family with a known mutation, the participant themselves need not know their personal mutation status.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• The Bluefield Project to Cure Frontotemporal Dementia: lead
• Mayo Clinic: collaborator
• University of California, San Francisco: collaborator

Study Sites (8)

University of California, San Francisco

San Francisco, California, 94158, United States

Location

Mayo Clinic Florida

Jacksonville, Florida, 32224, United States

Location

Johns Hopkins University School of Medicine

Baltimore, Maryland, 21287, United States

Location

Massachusetts General Hospital

Charlestown, Massachusetts, 02129, United States

Location

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Washington University in St. Louis

St Louis, Missouri, 63110, United States

Location

Columbia University

New York, New York, 10032, United States

Location

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

Related Publications (4)

• Saracino D, Dorgham K, Camuzat A, Rinaldi D, Rametti-Lacroux A, Houot M, Clot F, Martin-Hardy P, Jornea L, Azuar C, Migliaccio R, Pasquier F, Couratier P, Auriacombe S, Sauvee M, Boutoleau-Bretonniere C, Pariente J, Didic M, Hannequin D, Wallon D; French Research Network on FTD/FTD-ALS; PREV-DEMALS and Predict-PGRN study groups; Colliot O, Dubois B, Brice A, Levy R, Forlani S, Le Ber I. Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications. J Neurol Neurosurg Psychiatry. 2021 Dec;92(12):1278-1288. doi: 10.1136/jnnp-2021-326914. Epub 2021 Aug 4.

  PMID: 34349004 BACKGROUND

• Wilke C, Reich S, van Swieten JC, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonca A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Frisoni G, Ghidoni R, Sorbi S, Bocchetta M, Todd E, Kuhle J, Barro C; Genetic Frontotemporal dementia Initiative (GENFI); Rohrer JD, Synofzik M. Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study. Ann Neurol. 2022 Jan;91(1):33-47. doi: 10.1002/ana.26265. Epub 2021 Nov 29.

  PMID: 34743360 BACKGROUND

• Rojas JC, Wang P, Staffaroni AM, Heller C, Cobigo Y, Wolf A, Goh SM, Ljubenkov PA, Heuer HW, Fong JC, Taylor JB, Veras E, Song L, Jeromin A, Hanlon D, Yu L, Khinikar A, Sivasankaran R, Kieloch A, Valentin MA, Karydas AM, Mitic LL, Pearlman R, Kornak J, Kramer JH, Miller BL, Kantarci K, Knopman DS, Graff-Radford N, Petrucelli L, Rademakers R, Irwin DJ, Grossman M, Ramos EM, Coppola G, Mendez MF, Bordelon Y, Dickerson BC, Ghoshal N, Huey ED, Mackenzie IR, Appleby BS, Domoto-Reilly K, Hsiung GR, Toga AW, Weintraub S, Kaufer DI, Kerwin D, Litvan I, Onyike CU, Pantelyat A, Roberson ED, Tartaglia MC, Foroud T, Chen W, Czerkowicz J, Graham DL, van Swieten JC, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Finger E, Vandenberghe R, de Mendonca A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Sorbi S, Cash DM, Convery RS, Bocchetta M, Foiani M, Greaves CV, Peakman G, Russell L, Swift I, Todd E, Rohrer JD, Boeve BF, Rosen HJ, Boxer AL; ALLFTD and GENFI consortia. Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration. Neurology. 2021 May 4;96(18):e2296-e2312. doi: 10.1212/WNL.0000000000011848. Epub 2021 Apr 7.

  PMID: 33827960 BACKGROUND

• Gendron TF, Heckman MG, White LJ, Veire AM, Pedraza O, Burch AR, Bozoki AC, Dickerson BC, Domoto-Reilly K, Foroud T, Forsberg LK, Galasko DR, Ghoshal N, Graff-Radford NR, Grossman M, Heuer HW, Huey ED, Hsiung GR, Irwin DJ, Kaufer DI, Leger GC, Litvan I, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Ritter A, Roberson ED, Rojas JC, Tartaglia MC, Wszolek ZK, Rosen H, Boeve BF, Boxer AL; ALLFTD consortium; Petrucelli L. Comprehensive cross-sectional and longitudinal analyses of plasma neurofilament light across FTD spectrum disorders. Cell Rep Med. 2022 Apr 19;3(4):100607. doi: 10.1016/j.xcrm.2022.100607. eCollection 2022 Apr 19.

  PMID: 35492244 BACKGROUND

Related Links

• ALLFTD is the parent study of the NSP.

Biospecimen

Retention: SAMPLES WITH DNA

Plasma will be extracted from participant's whole blood. The plasma will be analyzed for the levels of neurofilament light chain and other potential biomarkers.

MeSH Terms

Conditions

Frontotemporal Dementia; Frontotemporal Lobar Degeneration; Frontotemporal Dementia With Motor Neuron Disease

Condition Hierarchy (Ancestors)

Dementia; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; TDP-43 Proteinopathies; Neurodegenerative Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Neurocognitive Disorders; Mental Disorders

Study Officials

• Adam Boxer, MD, PhD

  University of California, San Francisco

  PRINCIPAL INVESTIGATOR

• Bradley Boeve, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

• Howie Rosen, MD

  University of California, San Francisco

  PRINCIPAL INVESTIGATOR

• Laura Mitic, PhD

  The Bluefield Project to Cure Frontotemporal Dementia

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 11, 2020
• First Posted: August 18, 2020
• Study Start: September 2, 2020
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: October 29, 2025

Record last verified: 2025-10

Locations

US (8)