NCT02327845

Brief Summary

The goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful in aiding therapy development for this group of disorders.

Trial Health

78
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
700

participants targeted

Target at P75+ for all trials

Timeline
3mo left

Started Apr 2015

Longer than P75 for all trials

Geographic Reach
3 countries

15 active sites

Status
enrolling by invitation

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress98%
Apr 2015Aug 2026

First Submitted

Initial submission to the registry

December 24, 2014

Completed
6 days until next milestone

First Posted

Study publicly available on registry

December 30, 2014

Completed
3 months until next milestone

Study Start

First participant enrolled

April 1, 2015

Completed
11.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2026

Expected
1 month until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2026

Last Updated

July 3, 2025

Status Verified

July 1, 2025

Enrollment Period

11.3 years

First QC Date

December 24, 2014

Last Update Submit

July 1, 2025

Conditions

Amyotrophic Lateral SclerosisFrontotemporal DementiaPrimary Lateral SclerosisHereditary Spastic ParaplegiaProgressive Muscular AtrophyMultisystem Proteinopathy

Keywords

natural history, biomarkers, phenotype, genotype

Outcome Measures

Primary Outcomes (2)

  • Phenotypic correlates of genotype

    Using longitudinally collected deep phenotypic data, this project aims to define the natural history (i.e. temporal rate of disease progression) of the motor and frontotemporal system (behavior, cognition and language) phenotypes of ALS and related disorders in patients with identifiable genetic mutations.

    24 months

  • Genetic determinants of phenotype

    By combining longitudinally collected deep phenotypic data with deep genetic data (e.g. whole exome or whole genome sequencing), this project aims to define genetic variants that are associated with identifiable phenotypic features in patients with ALS and related disorders.

    24 months

Other Outcomes (1)

  • Biomarkers

    24 months

Study Arms (2)

Affected

Affected with any of the diseases that are the focus of study by the CReATe Consortium, including ALS, ALS-FTD, HSP, PLS, PMA and MSP.

Unaffected

Unaffected family members of enrolled affected individuals.

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with ALS or a related neurodegenerative disorder, including FTD, HSP, PLS, PMA and MSP. Select family members of affected participants.

You may qualify if:

  • Member of at least one of the following categories:
  • Individuals with a clinical diagnosis of ALS or a related disorder, including FTD, HSP, PLS, PMA and MSP (sporadic or familial).
  • Family member of an enrolled affected individual.
  • Able and willing to comply with relevant procedures.

You may not qualify if:

  • Affected with end or late stage disease.
  • A condition or situation which, in the PI's opinion, could confound the study finding or may interfere significantly with the individual's participation and compliance with the study protocol. This includes (but is not limited to) neurological, psychological and/or medical conditions.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (15)

Stanford University

Palo Alto, California, 94304, United States

Location

University of California San Diego (UCSD)

San Diego, California, 92093, United States

Location

California Pacific Medical Center (CPMC)

San Francisco, California, 94115, United States

Location

University of Miami

Miami, Florida, 33136, United States

Location

University of Iowa

Iowa City, Iowa, 52242, United States

Location

Kansas University Medical Center (KUMC)

Kansas City, Kansas, 66160, United States

Location

Twin Cities ALS Research Consortium

Minneapolis, Minnesota, 55415, United States

Location

Wake Forest University

Winston-Salem, North Carolina, 27157, United States

Location

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

University of Texas Southwestern (UTSW)

Dallas, Texas, 75390, United States

Location

University of Texas Health Science Center San Antonio (UTHSCSA)

San Antonio, Texas, 78229, United States

Location

University of Virginia (UVA)

Charlottesville, Virginia, 22908, United States

Location

Eberhard Karls University of Tübingen

Tübingen, Germany

Location

University of Cape Town

Cape Town, South Africa

Location

Related Publications (2)

  • Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J; CReATe Consortium PGB1 Study Investigators. Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression: validation and implications for clinical trial design and analysis. EBioMedicine. 2024 Oct;108:105323. doi: 10.1016/j.ebiom.2024.105323. Epub 2024 Sep 12.

    PMID: 39270623DERIVED

  • Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J. Prognostic Clinical and Biological Markers for Amyotrophic Lateral Sclerosis Disease Progression: Validation and Implications for Clinical Trial Design and Analysis. medRxiv [Preprint]. 2024 Aug 13:2024.08.12.24311876. doi: 10.1101/2024.08.12.24311876.

    PMID: 39185513DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

DNA, serum, urine and CSF

MeSH Terms

Conditions

Amyotrophic Lateral SclerosisFrontotemporal DementiaMotor Neuron DiseaseSpastic Paraplegia, HereditaryMuscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurodegenerative DiseasesTDP-43 ProteinopathiesNeuromuscular DiseasesProteostasis DeficienciesMetabolic DiseasesNutritional and Metabolic DiseasesFrontotemporal Lobar DegenerationDementiaBrain DiseasesNeurocognitive DisordersMental DisordersHereditary Sensory and Motor NeuropathyNervous System MalformationsHeredodegenerative Disorders, Nervous SystemPolyneuropathiesPeripheral Nervous System DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, Inborn

Study Officials

  • Michael Benatar, DPhil

    University of Miami

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Chief of the Neuromuscular Division, Professor of Neurology

Study Record Dates

First Submitted

December 24, 2014

First Posted

December 30, 2014

Study Start

April 1, 2015

Primary Completion (Estimated)

July 1, 2026

Study Completion (Estimated)

August 1, 2026

Last Updated

July 3, 2025

Record last verified: 2025-07

Data Sharing

IPD Sharing
Will not share

Locations

DE(1)ZA(1)US(13)