Official Title:  Answer ALS: The Individualized ALS Treatment Initiative (IATI)

Purpose of the Study: The purpose of this research is to create a large repository of cells, bio-fluid samples (blood and spinal fluid (optional)), and cell lines for ALS gene identification. Samples and information will be used mainly to study ALS and other motor neuron diseases. This will be combined carefully with collected measures of the pattern of the symptoms people with ALS have and how these change over time. This research is a stepping-stone to understanding ALS and through AnswerALS.org.

Eligibility Criteria:

• Diagnosis of Amyotrophic Lateral Sclerosis (ALS) 
• Age 18 and over

Study Status: recruiting participants

Principal Investigator: Stephen Kolb, M.D., Ph.D.

Contact: Ify Okoh, 614-688-7837, Ifeanyi.okoh@osumc.edu

Funding/Study Sponsor: Packard Center for ALS Research at Johns Hopkins and ALS Finding a Cure

Purpose of the Study: Interventional/Observational: to determine if DPS is associated with improved survival or diaphragm function

Eligibility Criteria:

1. Age 21 years or older
2. Sporadic or familial ALS
3. Evidence of hypoventilation at screening with at least one of the following:

1. Maximal static inspiratory pressure (MIP) <60 cm H20
2. Upright or supine forced vital capacity (FVC) <50% predicted for gender, age and height

4. Subjects must not have taken riluzole for at least 30 days, or be on a stable dose of riluzole for at least 30 days, prior to randomization (riluzole-naïve subjects are permitted in the study)
5. Geographically accessible to the site
6. Negative urine pregnancy test

Study Status: recruiting participants

Principal Investigator: Adam Quick, MD

Contact: Ify Okoh, 614-688-7837, Ifeanyi.okoh@osumc.edu

Funding: Barrow Neurological Institute, ALS Association, Muscular Dystrophy Association, Synapse Biomedical

Purpose of the Study: Observational: to derive induced pluripotent stem (iPS) cells from cells in the skin of patients with motor neuron diseases for the purpose of understanding the basic mechanisms of disease

Eligibility Criteria:
Inclusion for healthy control group:

• 18 years of age
• Individuals who do not have a diagnosis of a motor neuron disease (including those with other neurological diseases)

• 18 years of age
• Individuals who have a diagnosis of amyotrophic lateral ssclerosis (ALS), spinal muscular atrophy (SMA), progressive bulbar palsy (PBP) or other related diseases

Study Status: currently recruiting

Principal Investigator: Stephen Kolb, MD, PhD

Contact: Ify Okoh, 614-688-7837, Ifeanyi.Okoh@osumc.edu

Funding: OSU faculty development funds

Purpose of the Study: Observational: to evaluate the soluble factors in the cerebral spinal fluid in individuals with motor neuron disease

Eligibility Criteria:
Inclusion Criteria for Affected Participants:

1. Diagnosis of ALS
2. 18 years of age at the time of consent
3. Medically safe to have lumbar puncture

1. Absence of a known neurological disorder
2. 18 years of age at the time of consent
3. Medically safe to have lumbar puncture

Study Status: recruiting participants

Principal Investigator: Stephen Kolb, MD, PhD

Contact: Ify Okoh, 614-688-7837, Ifeanyi.Okoh@osumc.edu

Funding: OSU faculty development funds

Official Title: A Phase 3, Multi-National, Double-Blind, Randomized, Placebo-Controlled, Stratified, Parallel Group, Study to Evaluate the Safety, Tolerability and Efficacy of tirasimtiv in Patients with Amyotrophic Lateral Sclerosis (ALS)

Purpose of the Study: This is a Phase 3, placebo-controlled clinical trial testing the effectiveness of a medication called tirasemtiv to slow the rate of decline of respiratory, muscle, and physical function in individuals with ALS.

Description: CY 4031 is a multi-national, double-blind, randomized, placebo-controlled, study in patients with ALS with study medication, tirasemtiv. The study includes three phases; an open-label phase (2 weeks), a double-blind, placebo-controlled phase (48 weeks), and a double-blind, placebo-controlled tirasemtiv withdrawal phase (4 weeks). Patients who can complete two weeks of treatment with open-label tirasemtiv (125 mg twice daily) will be randomized to placebo and three different dose levels of tirasemtiv. Patients who enter the study on riluzole 50 mg twice daily will continue on riluzole but at a reduced dose of 50 mg once daily.

Eligibility Criteria: 

• Male or female 18 years of age or older
• A diagnosis of familial or sporadic ALS ≤ 24 months prior to screening
• Upright SVC ≥ 70 % of predicted for age, height and sex
• Able to swallow tablets without crushing

Study Status: currently recruiting

Principal Investigator: Stephen Kolb, MD, PhD

Contact: Sharon Chelnick, 614-293-4973, Sharon.chelnick@osumc.edu

Funding/Study Sponsor: Cytokinetics, Inc.

Purpose of the Study: Observational: to validate clinical outcome measures in FA and build a DNA/RNA bank for future research

Eligibility Criteria:

1. Males or females age 7 to 80 years
2. Genetically confirmed diagnosis of FA, or clinically confirmed diagnosis of FA, pending confirmatory genetic testing

Study Status: Recruiting participants

Principal Investigator: J. Chad Hoyle, MD

Contact: Amy Barlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: Friedreich’s Ataxia Research Alliance

Purpose of the Study: Interventional: to evaluate the safety and tolerability of RTA-408 and the change in peak work in maximal exercise testing in individuals with Friedreich’s Ataxia

Eligibility Criteria:

1. Genetically confirmed Friedreich’s ataxia
2. Male or female, age 16-40 inclusive
3. No changes to their exercise regimen within 30 days prior to study day 1 and willing to remain on the same exercise regimen during the study
4. Ability to complete maximal bicycle testing
5. Adequate kidney function
6. Able to swallow capsules

Study Status: Recruiting participants

Principal Investigator: J. Chad Hoyle, MD

Contact: Amy Barlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: Reata Pharmaceuticals, Inc.

Purpose of the Study: Interventional: to evaluate the safety and efficacy of fingolimod for the treatment of CIDP

Eligibility Criteria:

1. Patients must either have a clinical diagnosis of CIDP
2. A documented history of disability sufficient to require treatment within the past 2 years following reduction or interruption of CIDP treatment
3. Receiving IVIg treatment or corticosteroids
4. History of documented clinically meaningful deterioration confirmed by clinical examination
5. Stable CIDP symptoms without significant change in treatment regimen
6. Male or female, aged 18 years or older

• Electrophysiological criteria for demyelinating
• Have documented clinically meaningful response to treatment with steroids, IVIg or plasma exchange, confirmed by clinical examination within previous year

Study Status: recruiting participants

Principal Investigator: Stanley Iyaduari, PhD, MD

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: Novartis Pharmaceuticals

Purpose of the Study: Interventional: to evaluate the safety and efficacy of two different doses of subcutaneous immunoglobulin for the treatment of CIDP

Eligibility Criteria:

1. Definite or probable CIDP
2. An IVIG treatment during the past 8 weeks prior to enrollment
3. Age ≥18 years
4. Male or female

• Positive IgG dependency test

• Maintenance of INCAT score

Study Status: Recruiting participants

Principal Investigator: Miriam Freimer, MD

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: CSL Behring, ICON Clinical Research

Purpose of Study: Observational: to evaluate outcome measures for future clinical trials in FSHD

Eligibility Criteria:

• Clinical diagnosis of FSHD with genetic confirmation as previously described (19, 20)
• Age: 18-75 years
• Symptomatic: The subject has to have symptomatic limb weakness
• Independently ambulatory: able to walk 30 feet without the support of another person

Study Status: Recruiting participants

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Purpose of the Study: Interventional: to evaluate the safety, tolerability and biological activity of ATYR 1940-C-002 in individuals with FSHD

Eligibility Criteria:

• Patient is a male or female aged 18 to 65, inclusive
• Patient has an established, genetically confirmed diagnosis of FSHD
• Patient has imaging findings meeting defined criteria for muscle inflammation in at least 1 skeletal muscle

Study Status: Recruiting participants

Principal Investigator: Stanley Iyadurai, MD, PhD

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: aTyr Pharma, Inc.

Purpose of the Study: Interventional: to test the safety, tolerability and pharmacokinetics of multiple escalating doses of ISIS-DMPKRx

Eligibility Criteria:

1. Males or females aged 20 to 55
2. BMI < 35.0 kg/m2/li>
3. Genetic confirmation of DM1 with DMPK CTG repeat length ≥ 100
4. Onset of DM1 symptoms after the age of 12/li>
5. Ambulatory (orthoses allowed, canes and walkers not allowed) and able to walk at least 25 meters at screening

Study Status: Recruiting participants

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: Isis Pharmaceuticals

Purpose of the Study: Observational: to identify biomarkers for myotonic dystrophy

Eligibility Criteria:

1. Men and women, 18 to 70, inclusive
2. BMI ≤33
3. Onset of DM1 after age 10
4. Clinical diagnosis of DM1 or prior genetic testing with confirmation of DMPK CTG repeat length ≥70
5. Ability to complete a 6-minute walk test (ankle foot orthoses are allowed, but canes and walkers are not)

Study Status: Recruiting participants

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: National Institute of Neurological Disorders and Stroke (NINDS)

Purpose of the Study: Observational: a candidate gene approach to discover mutations responsible for non-acquired neuropathies

Eligibility Criteria: Patients with inherited neuropathies

Study Status: Recruiting participants

Principal Investigator: Stephen Kolb, MD, PhD

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: OSU faculty development funds

Purpose of the Study: Interventional: to evaluate, safety, tolerability, efficacy and preliminary dose-response of BAF312 in individuals with active dermatomyositis

Eligibility Criteria:

• Male and female patients between 18-65 (inclusive)
• Patients defined as “definite” or “probable” for dermatomyositis
• Patients must have active disease as defined by dermatomyositis skin rash AND muscle weakness
• Patients must have responded inadequately to previous standard of care or have demonstrated significant toxicity or intolerance to such therapies.
• Negative cancer screening conducted in the 6 months prior to screening visit

Study Status: Recruiting participants

Principal Investigator: Miriam Freimer, MD

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: Novartis Pharmaceuticals

Purpose of the Study: Interventional: to evaluate the efficacy and safety of BMN 701-301/GILT-tagged recombinant human GAA in rhGAA-exposed individuals with late on-set Pompe disease

Eligibility Criteria:

• Genetically confirmed diagnosis of late-onset Pompe
• ≥ 18 years of age at the time of enrollment in the study
• Prior treatment with commercial rhGAA as defined by the following:

• Has received treatment with commercial rhGAA for ≥ 48 weeks
• Has received and completed the last 2 infusions without a drug-related adverse event resulting in dose interruption

• Able to ambulate at least 40 meters on the 6-minute walk (use of assistive devices such as walkers, canes or crutches is permitted)

Study Status: Currently recruiting participants

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: BioMarin Pharmaceutical

Purpose of the Study: Interventional: open-label trial of ranolizine in myotonia congenita

Eligibility Criteria:

1. Male and female subjects, age 18 years old or greater
2. Diagnosis of myotonia congenita or paramyotonia congenita established by genetic testing in the subject or in a first-degree relative
3. Clinically evident myotonia

Study Status: Recruiting participants

Principal Investigator: W. David Arnold, MD

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: The Ohio State University

Purpose of the Study: Interventional: to evaluate the safety, tolerability and preliminary efficacy of BVS857 in patients with SBMA

Eligibility Criteria:

• Males with genetic diagnosis of SBMA with symptomatic muscle weakness
• Age 18 years or greater
• Able to complete 2-minute timed walk
• Serum IGF-1 levels less than or equal to 170 ng/mL

Study Status: Recruiting participants

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: Novartis Pharmaceuticals

Purpose of the Study: Observational: to enhance the understanding of the natural history of the disease to better manage and treat patients with TTR amyloidosis

Eligibility Criteria:

1. Males and females 18 years of age or older
2. Confirmed genotyped TTR mutation with or without a diagnosis of ATTR, or wild-type TTR amyloidosis

Study Status: Recruiting participants

Principal Investigator: Stanley Iyadurai, PhD, MD

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: Pfizer

Purpose of the Study: Interventional: to evaluate the efficacy and safety of rituximab in individuals with MG

Eligibility Criteria:

1. Male or female patients, age 21 to 90 years old
2. Patients must be on a stable standard immunosuppressive regimen
3. No history of thymoma, tumor, infection or interstitial lung disease on chest CT, MRI or chest X-ray

Study Status: Currently recruiting participants

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: Yale University, National Institutes of Health

Purpose of the Study: Interventional: to evaluate the efficacy and safety of eculizumab in individuals with generalized MG

Eligibility Criteria:

1. Male or female patients aged ≥18 years old
2. Diagnosis of MG
3. Subjects who have failed treatment over 1 year or more

Study Status: Recruiting participants

Principal Investigator: Miriam Freimer, MD

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: Alexion Pharmaceuticals

Purpose of the Study: Interventional: to evaluate the efficacy and safety of belimumab in individuals with generalized MG

Eligibility Criteria:

1. Subjects aged 18 years and older
2. Diagnosis of MG
3. Stable dose of treatment medication
4. Normal liver function

Study Status: Active, not recruiting

Principal Investigator: Miriam Freimer, MD

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: GlaxoSmithKline

Purpose of the Study: Interventional: to evaluate the efficacy and safety of bimagrumab/BYM338 in individuals with IBM

Eligibility Criteria:

• Male and female patients age 36 to 85 (inclusive)
• Diagnosed with pathologically defined or clinically defined sporadic inclusion body myositis
• Must not be wheelchair-bound (intermittent use of wheelchair is allowed)

Study Status: Ongoing, but not recruiting participants

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu

Funding: Novartis Pharmaceuticals

Purpose of the Study: Observational: to use DNA sequencing to identify the mechanism that causes Sporadic Inclusion Body Myositis

Eligibility Criteria:

• Male or female patients
• Definite or possible IBM

Study Status: recruiting participants

Contact: Amy Bartlett, 614-366-9050, Amy.bartlett@osumc.edu