Phenotype, Genotype & Biomarkers in ALS and Related Disorders

a study on Amyotropic Lateral Sclerosis (ALS) Dementia Primary Lateral Sclerosis Hereditary Spastic Paraplegia Progressive Muscular Atrophy Multisystem Proteinopathy

Summary

healthy people welcome
at UCSD
study started
estimated completion
John Ravits, MD (ucsd)

Description

Summary

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.

Details

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.

Keywords

Amyotrophic Lateral Sclerosis Frontotemporal Dementia Primary Lateral Sclerosis Hereditary Spastic Paraplegia Progressive Muscular Atrophy Multisystem Proteinopathy natural history, biomarkers, phenotype, genotype Sclerosis Atrophy Motor Neuron Disease Muscular Atrophy Aphasia, Primary Progressive Pick Disease of the Brain Paraplegia Spastic Paraplegia, Hereditary Muscular Atrophy, Spinal Affected Unaffected

Eligibility

You can join if…

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

You CAN'T join if...

  • 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.

Locations

  • University of California San Diego (UCSD) accepting new patients
    San Diego California 92093 United States
  • California Pacific Medical Center (CPMC) accepting new patients
    San Francisco California 94115 United States

Lead Scientist

  • John Ravits, MD (ucsd)
    Professor Of Clinical, Neurosciences. Authored (or co-authored) 70 research publications. Research interests: ALS neuroanatomic propagation · ALS molecular neuropathology · ALS genomics and transcriptome · C9orf72 ALS · Antisense oligonucleotide therapies · ALS clinical trials

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of Miami
ID
NCT02327845
Study Type
Observational
Last Updated