The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2015 by University of Miami
ALS Association
Information provided by (Responsible Party):
Michael Benatar, University of Miami Identifier:
First received: April 24, 2006
Last updated: September 22, 2015
Last verified: September 2015
Pre-fALS is a prospective natural history and biomarker study of people not yet affected with ALS, but who are at genetic risk for developing ALS. The investigators aim to recruit unaffected (healthy) people from familial ALS (fALS) pedigrees in which a known genetic mutation associated with ALS has been identified; for this study, a fALS pedigree is one with two biologically related individuals who have or have had ALS and/or FTD. Individuals who may be at genetic risk for ALS and who belong to families with at least one affected family member who has tested positive for a known ALS genetic mutation may also be eligible to participate. Our goal is to study the pre-symptomatic phase, onset and progression of ALS and to learn more about genetic and environmental factors that put people at risk for developing ALS.

Amyotrophic Lateral Sclerosis

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study

Resource links provided by NLM:

Further study details as provided by University of Miami:

Primary Outcome Measures:
  • Risk Factors for Progression to familial ALS [ Time Frame: Years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA
Serum, Plasma, CSF, DNA, Urine, Cell lines

Estimated Enrollment: 500
Study Start Date: April 2006
Estimated Primary Completion Date: December 2019 (Final data collection date for primary outcome measure)
Detailed Description:
Healthy individuals from fALS families with a known genetic mutation will be included in this study. We encourage people who have previously undergone genetic testing and were found to carry the mutation that affects their family as well as those who do not know their genetic status to contact us. Those who wish to participate and to learn the results of genetic testing, may do so after undergoing genetic counseling. It is also possible to participate without learning the results of genetic testing. Participants eligible to complete study visits will travel to Miami (at our expense) approximately every 12-24 months for a period of up to 10 years and will perform various biomarker procedures. Between visits, participants will complete phone calls about their health.

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Healthy individuals who harbor a mutation in a gene associated with ALS.

Inclusion Criteria

  • A member of a family in which a mutation in a gene associated with ALS has been identified.
  • No symptoms to suggest the presence of ALS (i.e. study participants must currently be healthy).
  • Having at least 50% probability of carrying an ALS associated gene mutation based on family pedigree.
  • Willingness to undergo genetic testing, with the option of whether or not to learn the results.
  • Willingness and availability to travel to Miami for a few days approximately every 12 to 24 months to complete biomarker procedures (e.g, MRI, blood draws, spinal tab/lumbar puncture, cognitive testing)

Exclusion Criteria

  • Diagnosis of ALS
  • Any condition or situation which, in the PI's opinion, could confound the biomarker data or may interfere with the individual's participation and compliance with the study protocol, including but not limited to neurological, psychological and/or medical conditions.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00317616

Contact: Eliana M Reyes 1-888-413-9315
Contact: Danielle Dauphin 1-888-413-9315

United States, Florida
University of Miami Recruiting
Miami, Florida, United States, 33136
Contact: Eliana Reyes    888-413-9315   
Contact: Danielle Dauphin         
Sponsors and Collaborators
Michael Benatar
ALS Association
Principal Investigator: Michael G Benatar, MD, PhD. University of Miami
  More Information

No publications provided

Responsible Party: Michael Benatar, MBChB, MS, DPhil, University of Miami Identifier: NCT00317616     History of Changes
Other Study ID Numbers: 1369-2005
Study First Received: April 24, 2006
Last Updated: September 22, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by University of Miami:
genetic testing
genetic counseling

Additional relevant MeSH terms:
Amyotrophic Lateral Sclerosis
Motor Neuron Disease
Central Nervous System Diseases
Metabolic Diseases
Nervous System Diseases
Neurodegenerative Diseases
Neuromuscular Diseases
Pathologic Processes
Proteostasis Deficiencies
Spinal Cord Diseases
TDP-43 Proteinopathies processed this record on November 30, 2015