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A Study to Evaluate the Performance of a Diagnostic Test in ALS

This study is currently recruiting participants.
Verified April 2016 by Andreas Jeromin, Iron Horse Diagnostics, Inc.
Sponsor:
ClinicalTrials.gov Identifier:
NCT02759913
First Posted: May 3, 2016
Last Update Posted: May 3, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
Andreas Jeromin, Iron Horse Diagnostics, Inc.
  Purpose

Prospective multicenter study of subjects who were recently diagnosed with amyotrophic lateral sclerosis (ALS) or another neurodegenerative disease (including spinal cord diseases, muscle diseases and neurological diseases such as multiple sclerosis, multifocal motor neuropathy, myasthenia gravis and spinal muscular atrophy) or who are currently undergoing diagnostic procedures for the aforementioned diseases.

Approximately 300 subjects will be enrolled. Subjects will undergo a lumbar puncture (LP) for cerebro-spinal fluid (CSF) collection; blood collection for serum, plasma, RNA, and DNA (optional); urine collection (optional); and skin biopsy (optional) in a single visit. No study treatment will be administered.

Subjects will be managed and treated by their respective physicians; choice of therapy or laboratory tests will not be impacted by the study. Clinical diagnosis may be confirmed by the subject's physician and communicated to the study's Principal Investigator (PI) by scheduled telephone calls.


Condition Intervention
Amyotrophic Lateral Sclerosis (ALS) Procedure: Lumbar puncture

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Study to Evaluate the Sensitivity, Specificity, and Overall Accuracy of an Amyotrophic Lateral Sclerosis Diagnostic Test Developed by Iron Horse Diagnostics

Resource links provided by NLM:


Further study details as provided by Andreas Jeromin, Iron Horse Diagnostics, Inc.:

Primary Outcome Measures:
  • Biomarker Measurement of phosphorylated neurofilament heavy chain (pNfH) and complement C3 in CSF [ Time Frame: Baseline ]
    Sensitivity, specificity, and overall accuracy of cerebro-spinal fluid (CSF) phosphorylated neurofilament (pNfH) pNfH/C3 ratio to identify ALS in a cohort of subjects who were recently diagnosed with ALS or another neurodegenerative disease or who are currently undergoing diagnostic procedures in the US. These are quantitative measurements of 2 proteins (pNfH) and C3 in cerebrospinal fluid (CSF), pNfH and C3 measurements will be reported in ng/ml and a single quantitative protein measurement of pNfH in ng/ml in plasma. In CS. The ratio of pNfH to C3 will be determined, both measurements for pNfH and C3 in CSF were made in ng/ml. In addition, the single biomarker measurements of pNfH and C3 in ng/ml will be presented. These biomarkers will be measured post-hoc and not for diagnostic decisions.


Secondary Outcome Measures:
  • ALS Functional Rating Scale (ALSFRS-R) [ Time Frame: At baseline ]
    ALSFRS-R is a quickly administered (5 min) ordinal rating scale used to determine a subject's assessment of their capability and independence in 12 functional activities. There are 12 questions, graded by the subject 0-4 (4 is normal). Score of 0 (worst) to 48 (best). Reflects speech and swallowing, fine motor skills, large motor skills, and breathing.


Biospecimen Retention:   Samples With DNA
Cerebrospinal fluid, EDTA plasma, serum, whole blood (optional) and PAX gene tubes will be collected

Estimated Enrollment: 300
Study Start Date: January 2015
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: August 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Amyotrophic lateral sclerosis
Participants recently diagnosed with ALS in a neuromuscular clinic, using the ALS functional rating scale (ALSFRS-R). Lumbar puncture (LP) for cerebro-spinal fluid (CSF) collection The ALSFRS-R is a quickly administered (5 min) ordinal rating scale used to determine a subject's assessment of their capability and independence in 12 functional activities. There are 12 questions, graded by the subject 0-4 (4 is normal). Score of 0 (worst) to 48 (best). Reflects speech and swallowing, fine motor skills, large motor skills, and breathing.
Procedure: Lumbar puncture
Collection of biofluids to determine the accuracy, sensitivity and specificity of a diagnostic test developed by Iron Horse Diagnostics
ALS mimics
Other motorneuron disorders, isolated upper and lower motoneuron disorders Lumbar puncture (LP) for cerebro-spinal fluid (CSF) collection
Procedure: Lumbar puncture
Collection of biofluids to determine the accuracy, sensitivity and specificity of a diagnostic test developed by Iron Horse Diagnostics

  Show Detailed Description

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   21 Years to 80 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
ALS and other motoneuron diseases (ALS mimics)
Criteria

Inclusion Criteria:

  • To be eligible to participate in this study, candidates must meet the following eligibility criteria at the Screening Visit:

    1. Ability to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use protected health information (PHI) in accordance with national and local subject privacy regulations.
    2. Aged 21 to 80 years old, inclusive.
    3. Must meet one of the following:

      • Recent diagnosis of sporadic or familial ALS (within 18 months of first visit for ALS symptoms) according to the World Federation of Neurology El Escorial criteria (revised according to the Airlie House Conference 1998 [Brooks 1999] ).
      • Recent diagnosis of neuromuscular disease other than ALS (within 12 months of first visit for neurologic symptoms).
      • Undergoing diagnostic procedures for neuromuscular disease.
    4. Willingness and medical ability to comply with scheduled visits, LP for CSF collection, laboratory tests, and other study procedures.

Exclusion Criteria:

  • Candidates will be excluded from study entry if any of the following exclusion criteria exist at the Screening Visit:

    1. Any contraindications to having an LP, including but not limited to:

      • Platelet count <100,000/µL.
      • History of bleeding disorder.
      • Use of platelet antiaggregant or anticoagulant drugs, including but not limited to clopidogrel, dipyridamole, ticlopidine , and warfarin. Use of aspirin at a prophylactic dose of 75-325 mg r less is acceptable.
      • History of intolerance to the LP procedure.
      • Evidence of topical or other skin infection at the LP site.
      • Prior spinal fusion surgery or other spinal surgery at the LP site.
    2. If undergoing skin biopsy, evidence of topical or other skin infection at the biopsy site.
    3. History of allergy or other adverse reaction to local anesthetics used in the study.
    4. History of traumatic central nervous system injury or stroke.
    5. History of chronic liver or renal failure.
    6. Requirement for artificial respiration, including tracheostomy and any use of bilevel positive airway pressure (BiPAP) therapy.
    7. Female subjects who are pregnant or currently breastfeeding.
    8. Current enrollment in any other investigational drug, medical devices, or disease study.
    9. Other unspecified reasons that, in the opinion of the Investigator or Iron Horse, make the subject unsuitable for enrollment.
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02759913


Contacts
Contact: Andreas Jeromin, PhD 3526727358 andreasjeromin@ironhorsedx.com

Locations
United States, Ohio
Cleveland Clinic Recruiting
Cleveland, Ohio, United States, 44195
Contact: Irys Caristo    261-444-0173    caristi@ccf.org   
Sponsors and Collaborators
Iron Horse Diagnostics, Inc.
Investigators
Principal Investigator: Andreas Jeromin, PhD Iron Horse Diagnostics
  More Information

Responsible Party: Andreas Jeromin, Chief Scientific Officer, Iron Horse Diagnostics, Inc.
ClinicalTrials.gov Identifier: NCT02759913     History of Changes
Other Study ID Numbers: IronHorseDx001
First Submitted: April 4, 2016
First Posted: May 3, 2016
Last Update Posted: May 3, 2016
Last Verified: April 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Andreas Jeromin, Iron Horse Diagnostics, Inc.:
neuromuscular diseases

Additional relevant MeSH terms:
Sclerosis
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Pathologic Processes
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases