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OpenTrials
Active, Not Recruiting

NCT Number: NCT04875416

Phenotype, Genotype and Biomarkers 2

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, the investigator wants 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). The investigator also wants to identify biomarkers of ALS and related diseases.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Amyotrophic Lateral Sclerosis Brain Diseases Central Nervous System Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dementia Frontotemporal Dementia Frontotemporal Lobar Degeneration Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Hereditary Spastic Paraplegia Heredodegenerative Disorders, Nervous System Mental Disorders Metabolic Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Nervous System Malformations Neurocognitive Disorders Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Peripheral Nervous System Diseases Polyneuropathies Primary Lateral Sclerosis Progressive Muscular Atrophy Proteostasis Deficiencies Spastic Paraplegia, Hereditary Spinal Cord Diseases TDP-43 Proteinopathies

Age range

7 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Cape Town, Cape Town, South Africa

Loading trial locations.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

for affected individuals (primary participants) include:

  • Clinical diagnosis or suspicion of ALS or a related disorder, including, but not limited to, ALS-FTD, PLS, HSP, FTD, Multisystem Proteinopathy (MSP) and PMA.
  • Subject is able and willing to comply with study procedures

Exclusion criteria

for affected individuals (primary participants) include:

  • Subjects with a condition or who are in a 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 -- including but not limited to neurological, psychological and/or medical conditions

Inclusion criteria

for biological family members (secondary participants) include:

  • Family member of an enrolled affected primary participant

Exclusion criteria

for biological family members (secondary participants) include:

  • Subjects with a condition or who are in a 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 -- including but not limited to neurological, psychological and/or medical conditions

Treatment and study plan

Primary outcomes

  1. Rates of change in revised ALS functional rating scale (ALSFRS-R)

    Time frame: 48 months

    Prepare motor outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease

  2. Rates of change in Slow vital capacity (SVC)

    Time frame: 48 months

    Prepare motor outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease

  3. Rates of change in Spastic paraplegia rating scale (SPRS)

    Time frame: 48 months

    Prepare cognitive and behavioral outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease

  4. Rates of change in Edinburgh Cognitive and Behavioral ALS Screen (ECAS)

    Time frame: 48 months

    Prepare cognitive and behavioral outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease

  5. ALS Health Index (ALS-HI)

    Time frame: 48 months

    Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure

  6. Serum

    Time frame: 48 months

    Determine the diagnostic utility of serum neurofilament concentrations

  7. Cerebrospinal Fluid (CSF)

    Time frame: 48 months

    Determine the diagnostic utility of CSF neurofilament concentrations

Sponsors and collaborators

Lead sponsor

University of Miami

Other

Collaborators

  • National Institute of Neurological Disorders and Stroke (NINDS)
  • National Institutes of Health (NIH)

Registry information

Acronym: PGB2

Important dates

Study start
2021
Primary completion
2031
Study completion
2031
First posted
May 6, 2021
Registry last updated
Jun 15, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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