Phenotype, Genotype & Biomarkers in ALS and Related Disorders

Study Purpose:

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.

Study Status:

Not recruiting

Disease:

Amyotrophic Lateral Sclerosis (ALS) , Familial ALS , Sporadic ALS , Primary Lateral Sclerosis (PLS) , Hereditary Spastic Paraplegia (HSP) , Healthy Volunteer , Healthy Volunteer with a Family History of ALS

Study Type:

Observational

Type of Intervention:

N/A

Intervention Name:

N/A

Placebo:

N/A

Phase:

N/A

Study Chair(s)/Principal Investigator(s):

Michael Benatar, University of Miami

Clinicaltrials.gov ID:

NCT02327845

Neals Affiliated?

No

Coordinating Center Contact Information

University of Miami

Sumaira Hussain / email hidden; JavaScript is required / 844-837-1031

Miami, Florida, 33136 United States

Full Study Summary:

This study will recruit patients with ALS, ALS-FTD, PLS, HSP, and PMA, with a focus on incident cases. Patients with both familial and sporadic forms of these diseases will be enrolled and followed longitudinally using a standardized set of evaluations. Biological samples (blood, urine, CSF) will be collected from all study participants, and will be used for biomarker discovery and validation. Family members of affected individuals may also be enrolled and asked to contribute DNA and biological samples to aid genetic and biomarker discovery.

Study Sponsor:

University of Miami

Estimated Enrollment:

700

Estimated Study Start Date:

04 / 01 / 2015

Estimated Study Completion Date:

06 / 30 / 2021

Posting Last Modified Date:

01 / 07 / 2021

Date Study Added to neals.org:

08 / 18 / 2015

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

Inclusion Criteria:

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

Exclusion Criteria:

  • 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.

Stanford University

Michael Nguyen / 650-724-6147 / email hidden; JavaScript is required

Palo Alto, California 94304
United States

University of California San Diego (UCSD)

Gil Gutierrez / 858-246-2325 / email hidden; JavaScript is required

San Diego, California 92093
United States

California Pacific Medical Center (CPMC)

Simon Carty / 415-600-1368 / email hidden; JavaScript is required

San Francisco, California 94115
United States

University of Miami

Jessica Hernandez / 305-243-2345 / email hidden; JavaScript is required

Miami, Florida 33139
United States

University of Iowa

Jeri Sieren / 319-356-8744 / email hidden; JavaScript is required

Iowa City, Iowa 52242
United States

Kansas University Medical Center (KUMC)

Collin Gerringer / 913-748-5701 / email hidden; JavaScript is required

Kansas City, Kansas 66160
United States

Twin Cities ALS Research Consortium

Cindy Rohde / 612-873-2607 / email hidden; JavaScript is required

Minneapolis, Minnesota 55415
United States

Wake Forest University

Mozhdeh Marandi / 336-713-8577 / email hidden; JavaScript is required

Winston-Salem, North Carolina 27157
United States

Cleveland Clinic

Debbie Hastings / 216-445-3353 / email hidden; JavaScript is required

Cleveland, Ohio 44195
United States

University of Pennsylvania

Luis Rosario / 215-898-3081 / email hidden; JavaScript is required

Philadelphia, Pennsylvania 19104
United States

University of Texas Southwestern (UTSW)

Amy Conger / 214-648-0214 / email hidden; JavaScript is required

Dallas, Texas 75390
United States

University of Texas Health Science Center San Antonio (UTHSCSA)

Pamela Kittrell / 210-450-0524 / email hidden; JavaScript is required

San Antonio, Texas 78229
United States

University of Virginia (UVA)

Amruta Joshi / 434-982-0293 / email hidden; JavaScript is required

Charlottesville, Virginia 22908
United States

Eberhard Karls University of Tubingen

Tubingen
Germany

University of Cape Town

Cape Town
South Africa