Phenotype, genotype, and biomarkers (PGB) in ALS and related disorders

What we are studying

The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, we want to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). We also want to identify biomarkers of ALS and related diseases. A biomarker is an indicator of the disease that can easily be measured. Our long-term goal is to use this information to advance the development of therapies for this group of neurodegenerative disorders. You are eligible to participate in the study for one of the following reasons: 1) you have ALS or a related disease, or 2) you have a family member affected with ALS or a related disease who is already taking part in the study.

Who is Eligible

  • Genders:
    • Men
    • Women
  • Races:
    • White
    • African American
    • Asian
    • American Indian or Alaska Native
    • Native Hawaiian or Pacific Islander
    • Other
  • All Ethnicities
  • Ages 1+

Eligibility Criteria

  • The PBG protocol will recruit and evaluate patients with ALS or a related neurodegenerative disorder
  • Including (but not limited) to ALS-frontotemporal dementia (FTD)
  • Primary lateral sclerosis (PLS)
  • Hereditary spastic paraplegia (HSP)
  • Progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP).

What is involved

  • Genetic Testing and Genetic Counseling
  • Symptom Questionnaire
  • Daily Activities and Quality of Life Questionnaires
  • Neurological Examination
  • Respiratory Muscle Function
  • Edinburgh Cognitive and Behavioral ALS Screen (ECAS)
  • Extended Neuropsychological Testing
  • Spastic Paraplegia Rating Scale (SPRS)
  • Collection of Biological Specimens and Survival Assessment


ALS or related-disorder patients will be paid $40 for each of the five scheduled in person study visits. Subjects may be paid up to $240 in total since there are 5 in-person visits scheduled and one additional visit may be required.

Contact Information

Study Coordinator
Mozhdeh Marandi
336 713 8577
Principal Investigator
Dr. James Caress

Disclaimer: The information on this website is for general informational purposes only and SHOULD NOT be relied upon as a substitute for sound professional medical advice, evaluation or care from your physician or other qualified health care provider.