ALS Amyotrophic lateral sclerosis
Conditions
Interventions
None listed
Sponsors
Washington University in St. Louis
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Age: 18 or older 2. Known positive C9ORF72 status upon enrollment (ALS or asymptomatic carrier) 3. Sporadic or familial ALS diagnosed as possible, laboratory-supported probable, probable, or definite as defined by revised El Escorial criteria, if the subject in included in the study as ALS patient. 4. Capable of providing informed consent and following study procedures. (In the case that a ALS subject lacks the ability to provide informed consent, informed consent will be sought for the subject*s surrogate representative.)
Exclusion criteria
Exclusion criteria: Negative for C9ORF72 gene mutation;Lumbar punctur (optional) 1.Medically unable to undergo lumbar puncture (LP) as determined by the investigator (i.e., bleeding disorder, a skin infection at or near the LP site, or evidence of high intracranial pressure). 2. Pregnant; breastfeeding 3. Any active dermatologic disease at the site of the puncture. 4. Any connective tissue disease including systemic lupus erythematous, Sjögren*s syndrome, scleroderma or mixed connective tissue disease. 5. Any known or suspected abnormal CSF pressure or intracranial/intraspinal tumors. 6. Use of anticoagulant medication (eg. warfarin, dalteparin, enoxaparin, rivaroxaban, fondaparinux, dabigatran) that cannot be safely withheld until coagulation parameters have normalized prior to lumbar puncture and for up to a week following the lumbar puncture. 7. Blood dyscrasia, abnormal bleeding diathesis, or the use of dialysis for renal failure. 8. Clinical judgment of the Site Investigator that the subject would be unable to undergo multiple lumbar punctures.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary outcome measures will be the collection of clinical data (ALS Functional Rating Scale-Revised (ALS-FSR-R and slow vital capacity (SVC)) to determine rates of disease progression and collection of biomarkers samples (blood, cerebrospinal fluid (CSF) to be correlated with the clinical measures. | — |
Secondary
| Measure | Time frame |
|---|---|
| The secondary outcome measures include determination of the C9ORF72 hexanucleotide repeat expansion size and correlating this with the outcome measures of disease progression collected (ALSFRS-R/month, decrease in SVC/month and ALS Cognitive Screen) and determination of C9ORF72 ALS patients that may be available for a clinical trial. | — |
Countries
Netherlands
Outcome results
None listed