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

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 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: February 27, 2015
Last verified: February 2015

The investigators aim to recruit unaffected (healthy) people from families with a known genetic mutation in which at least two relatives have been affected with Amyotrophic Lateral Sclerosis (ALS). Our goal is to identify factors, both genetic and environmental, which put people at risk for developing ALS in the future.

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 people from familial ALS families with a known genetic mutation will be included in this study. The investigators encourage people who know that they 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 in the study will travel to Miami (at our expense) approximately every 12-24 months to complete study visits.


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. This may include a family in which at least two relatives have been or currently are affected with ALS.
  • 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.
  • Willingness to undergo genetic testing, with the option of whether or not to learn the results.
  • Willingness to travel to Miami approximately every 12 to 24 months for in-person study evaluations.

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: Sumaira Hussain 1-888-413-9315

United States, Florida
University of Miami Recruiting
Miami, Florida, United States, 33136
Contact: Eliana Reyes    888-413-9315   
Contact: Sumaira Hussain         
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: February 27, 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 August 31, 2015