PEARLS

Phenotyping and Exploring biomarkers in Asymptomatic Relatives of ALS variants - PEARLS

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON53346

Enrollment

200

Registered

2023-01-17

Start date

2023-07-25

Completion date

Unknown

Last updated

2026-01-27

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

ALS ALS

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Age = 18 year - Being either an ALS/PLS/PSMA patient carrying a pathogenic mutation OR being a relative of such a patient. - Participant in the NMZ Biobank

Exclusion criteria

Exclusion criteria: None

Design outcomes

Primary

Measure	Time frame
Multimodal biomarkers are being researched in order to identify early signs of disease onset in asymptomatic carriers of ALS-relatedmutations. To validate the efficacy of potential biomarkers they will be compared between ALS/PMA/PLS patients, asymptomaticcarriers and non-carriers. Difference in investigational biomarkers between non-carrier, presymptomaticasymptomatic carrier, phenoconverter and ALS patientlevels, and genotype-related differences: - Liquid biomarkers (based on CSF and urine): e.g. Neurofilament light (NfL), Chitinases, Monocyte chemoattractant protein-1(MCP-1), p75 extracellular domain (p75ECD) Neurotrophin receptor. - Fasciculation incidence, muscle wasting - Eye movement abnormalities	—

Measure

Time frame

Multimodal biomarkers are being researched in order to identify early signs of disease onset in asymptomatic carriers of ALS-relatedmutations. To validate the efficacy of potential biomarkers they will be compared between ALS/PMA/PLS patients, asymptomaticcarriers and non-carriers. Difference in investigational biomarkers between non-carrier, presymptomaticasymptomatic carrier, phenoconverter and ALS patientlevels, and genotype-related differences: - Liquid biomarkers (based on CSF and urine): e.g. Neurofilament light (NfL), Chitinases, Monocyte chemoattractant protein-1(MCP-1), p75 extracellular domain (p75ECD) Neurotrophin receptor. - Fasciculation incidence, muscle wasting - Eye movement abnormalities

—

Countries

Netherlands

Contacts

Public ContactK.C. Demaegd

Universitair Medisch Centrum Utrecht

ALS-onderzoek@umcutrecht.nl0887577777

Outcome results