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

NCT02759913 | Unknown

• 1 other identifier: IronHorseDx001
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Amyotrophic Lateral Sclerosis (ALS)

Keywords

neuromuscular diseases

Outcome Measures

Primary Outcomes (1)

• Biomarker Measurement of phosphorylated neurofilament heavy chain (pNfH) and complement C3 in CSF

  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.

  Baseline

Secondary Outcomes (1)

• ALS Functional Rating Scale (ALSFRS-R)

  At baseline

Study Arms (2)

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

ALS mimics

Other motorneuron disorders, isolated upper and lower motoneuron disorders Lumbar puncture (LP) for cerebro-spinal fluid (CSF) collection

Procedure: Lumbar puncture

Interventions

Lumbar puncture PROCEDURE

Collection of biofluids to determine the accuracy, sensitivity and specificity of a diagnostic test developed by Iron Horse Diagnostics

ALS mimics; Amyotrophic lateral sclerosis

Eligibility Criteria

• Age: 21 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

ALS and other motoneuron diseases (ALS mimics)

You may qualify if:

• To be eligible to participate in this study, candidates must meet the following eligibility criteria at the Screening Visit:
• 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.
• Aged 21 to 80 years old, inclusive.
• 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.
• Willingness and medical ability to comply with scheduled visits, LP for CSF collection, laboratory tests, and other study procedures.

You may not qualify if:

• 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.
• If undergoing skin biopsy, evidence of topical or other skin infection at the biopsy site.
• History of allergy or other adverse reaction to local anesthetics used in the study.
• History of traumatic central nervous system injury or stroke.
• History of chronic liver or renal failure.
• Requirement for artificial respiration, including tracheostomy and any use of bilevel positive airway pressure (BiPAP) therapy.
• Female subjects who are pregnant or currently breastfeeding.
• Current enrollment in any other investigational drug, medical devices, or disease study.
• Other unspecified reasons that, in the opinion of the Investigator or Iron Horse, make the subject unsuitable for enrollment.

Sponsors & Collaborators

• Iron Horse Diagnostics, Inc.: lead

Study Sites (1)

Cleveland Clinic

Cleveland, Ohio, 44195, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Cerebrospinal fluid, EDTA plasma, serum, whole blood (optional) and PAX gene tubes will be collected

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Neuromuscular Diseases

Interventions

Spinal Puncture

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Biopsy; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Techniques, Neurological; Punctures; Therapeutics; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Andreas Jeromin, PhD

  Iron Horse Diagnostics

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Andreas Jeromin, PhD

CONTACT

3526727358; andreasjeromin@ironhorsedx.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief Scientific Officer

Study Record Dates

• First Submitted: April 4, 2016
• First Posted: May 3, 2016
• Study Start: January 1, 2015
• Primary Completion: August 1, 2016
• Study Completion: December 1, 2016
• Last Updated: May 3, 2016

Record last verified: 2016-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)