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8008: Biomarkers of Axonal Degeneration in Hereditary Spastic Paraplegia


Hereditary Spastic Paraplegias and Primary Lateral Sclerosis are neurodegenerative disorders primarily affecting upper motor neurons. Patients experience progressive weakness and spasticity, but may also experience additional neurological deficits. The purpose of this study is to identify biological markers in blood, spinal fluid or urine of patients with these diseases that can indicate the severity of the disease and potentially reflect or predict disease progression. These biological markers are important for future therapeutic clinical trials as they can be used to measure treatment response.

About This Study

This longitudinal study will recruit approximately 700 people who are affected with ALS or a related disorder (primary participants). Patients with both familial and sporadic forms of these diseases will be enrolled. In addition, where possible, we will collect a blood sample and limited clinical information from family members of affected individuals (secondary participants); we expect to enroll ~700 secondary participants.

Study involvement (for primary participants) entails five in-person assessments over two years and annual remote assessments thereafter:

  • Providing information about your family so a pedigree (family tree) may be drawn
  • Sharing your medical history
  • Having genetic testing done (and counseling when appropriate)
  • Undergoing a neurological exam including assessment of breathing muscle strength
  • Donating samples of blood, urine and optionally, cerebrospinal fluid
  • Performing assessments of cognitive function
  • Self-reporting of functional abilities and quality of life

The research questions are:

  • Are levels of selected biological markers elevated in blood, spinal fluid or urine compared to healthy controls?
  • Do levels of biological markers in blood and spinal fluid correlate, thus enabling to avoid repeated spinal tabs in clinical trials?
  • Do levels of selected biological markers correlate with clinical markers of disease severity and disease progression?

About this Study

This is a retrospective study as it utilizes specimens and clinical data that have already been collected and archived for future use in research under separate IRB-approved protocols by collaborators. Samples and data from about 330 individuals will be included in the study, including 250 patients and 80 healthy controls.

Enrollment Criteria

This is a retrospective study and is not enrolling any participants prospectively.

How to Participate:

Not open to prospective enrollment.