CReATe Consortium: Phenotype, Genotype, & Biomarkers 2 (PGB2) Study

• Individuals with an established or suspected diagnosis of amyotrophic lateral sclerosis (ALS) or a related disorder
• Family member of an enrolled affected individual.

(1) To learn more about 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, to better understand the relationship between the phenotype (observable signs and symptoms) and genotype (genetic information) of ALS and related diseases, including PLS, HSP, PMA, MSP, and FTD.

(2) To identify biomarkers of ALS and related diseases that could speed up development of effective treatments and therapies for these group of disorders.

(3)  To explore the gene-environment relationship in ALS and related disorders.

• 5 half-day study visits in Miami over a 2-year period
  • Family and medical history review
  • Collect blood, urine, and CSF fluid (CSF optional)
  • Neurological exam
  • Cognitive Screening Test
  • Neuropsychological exam
  • Breathing testing
  • Questionnaires/Surveys
  • Speech Testing (Optional)
• Quarterly phone interview after 5th visit