Neuromuscular Clinical Studies :: Nationwide Children's Hospital

Neuromuscular Clinical Studies

Investigators with the Center for Gene Therapy at Nationwide Children's are currently conducting numerous clinical research studies in Neuromuscular Disorders including Muscular Dystrophy. Each study is described in detail below.

Interested in learning more information or enrolling in a study? You may also contact the study coordinator by calling (614) 722-2203.

FOR Duchenne Muscular Dystrophy Study (FOR DMD Study)

This study will investigate the best corticosteroid regime in boys with Duchenne Muscular Dystrophy.

  [read more...]

The Newcastle University and the University of Rochester, in collaboration with the United States National Institutes of Health, and the National Institute of Neurological Disorders and Stroke, are conducting a phase III study with corticosteroids in boys with Duchenne Muscular Dystrophy (FOR DMD study).

Corticosteroids are currently the only medicine that has been shown to increase muscle strength in boys with DMD. Doctors have tried different ways of prescribing corticosteroids in order to decrease undesirable side effects. Currently, different doctors in different countries prescribe the drugs in different ways, and some do not prescribe corticosteroids at all.

The FOR DMD study aims to compare three ways of giving corticosteroids to boys with DMD to determine which increases muscle strength the most, and which causes the fewest side effects.

Using the results of this study, we aim to provide patients and families with clearer information about the best way to take these drugs.

This study will look at three ways of taking corticosteroids by the mouth:

  1. Prednisone 0.75mg/kg/day
  2. Prednisone 0.75mg/kg/day switching between 10 days on and 10 days off treatment
  3. Deflazacort 0.9mg/kg/day

All three dosages are commonly used in boys with DMD and have shown to be beneficial.

In this study there is no placebo group, which means that all participants will receive active drugs (Prednisone or Deflazacort). However, neither the boys nor the clinicians will know which treatment or regime the boy is taking.

The study will recruit 300 boys around Europe, United States and Canada.

In North America, 16 centers will take part in the study:

Alberta Children's Hospital Penn State Children's Hospital
Children's Memorial Hospital, Chicago SUNY Downstate Med Center
Health Sciences Centre Winnipeg University of California, Davis
Kansas University Medical Center University of California Los Angeles
Kennedy Krieger Institute University of New Mexico
London Health Sciences Center University of Rochester Medical Center
Nemours Children’s Hospital, Orlando University of Texas Southwestern Medical Center
Nationwide Children’s Hospital Vanderbilt Children's Hospital


Patients who do not attend one of these hospitals for their routine follow-up can also participate, but will have to travel to their closest participating site to receive the study drug and for the check-ups.

Participants will receive study medication for a minimum of three years and a maximum of five years (depending on how early the boy was recruited into the study) and participation involves visits to the study hospital every three months for the first 6 months and every six months thereafter. At these visits we will be repeating many of the tests your child usually has in clinic for his routine DMD follow up.

How do you know if you are eligible to take part?

In order to take part in the study boys need to fulfil a number of criteria. These can only be checked when you come into the clinic. However, at this stage if your child may be eligible if he

  • Has a genetically confirmed diagnosis of DMD
  • Is aged 4-7 years (before 8th birthday)
  • Has never taken steroids (by mouth)

If you feel that your child might be able to participate in this trial, please feel free to discuss it with your doctor locally. Alternatively, if you would like further information, please contact the University of Rochester Medical Center: Kim Hart  |  Phone: 1 (585) 275-3767.


Prosensa Natural History Study (PRO DMD Study)

This is a prospective natural history study of the progression of physical impairment, activity limitation and quality of life in Duchenne Muscular Dystrophy

  [read more...]

What is this study about?

This study is to:

  • Determine the muscle strength and function of subjects with (DMD) and its evolution with time
  • Assess the quality of life of DMD patients
  • Measure biomarkers (some proteins found in the blood and urine that may be linked to disease progression)

There is no medication being tested in this study

What do we do in this study?

During a study visit, patients are asked to:

  • Perform some muscle testing with a physical therapist to see how well they can:
    • Walk, run, jump, climb stairs
    • Move their arms, legs, hands, fingers
    • Breathe in a machine
  • Answer surveys about quality of life and how they think they can perform daily tasks
  • Provide blood and urine samples

Who can participate?

  • DMD patient with any type of mutation (exon deletion, du-plication, stop codon…)
  • Age range at enrolment: between 3 and 18 years
  • It is acceptable to take medications during the study. Only investigational drug products are excluded
  • If a drug study becomes available, patients will be able to leave the natural history study and move into the drug study
  • 250 patients will be enrolled in 16 hospitals in 10 countries

For more information: - Study ID: NCT01753804

Or you can contact: Dr. Kevin Flanigan or Susan Gailey
Phone: (614) 355 2897  |  Email:


Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy

This study is a Phase 3, multicenter, randomized, double-blind, placebo-controlled study to determine the efficacy and safety of ataluren 10, 10, 20 mg/kg in patients with nonsense mutation dystrophinopathy. Patients will be randomized in a 1:1 ratio to ataluren 10-, 10-, 20-mg/kg dose level or placebo. It is planned that 220 patients will be enrolled and patients will undergo 48 weeks of blinded treatment prior to the final analysis. Study assessments will be performed at clinic visits every 8 weeks. It is anticipated that an open-label extension study will be available to patients (who successfully complete the double-blind study) in countries where ataluren is not commercially available.

  [read more...]


Ages Eligible for Study: 7 years to 16 years

Genders Eligible for Study: Male

Inclusion Criteria:

  • Age ≥7 and ≤16 years
  • Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing from a laboratory certified by the College of American Pathologists (CAP), the Clinical Laboratory Improvement Act/Amendment (CLIA) or an equivalent organization
  • Use of systemic corticosteroids (prednisone, prednisolone, or deflazacort) for a minimum of 6 months immediately prior to start of study treatment, with no significant change in dosage or dosing regimen (not related to body weight change) for a minimum of 3 months immediately prior to start of study
  • Screening 6-minute walk test. Patients need to be below the protocol-specified threshold for %-predicted 6MWD
  • Results of the 2 Baseline 6MWD results must be determined as valid and results of the Day 2 Baseline 6MWD must be within 20% of the Day 1 Baseline 6MWD
  • Baseline 6MWD (mean of valid Day 1 and Day 2 values) must be no more than a 20% reduction from the valid Screening 6MWD
  • Confirmed screening laboratory values within the central laboratory ranges (hepatic, renal, and serum electrolyte parameters)

Exclusion Criteria:

  • Treatment with systemic aminoglycoside antibiotics within 3 months prior to start of study treatment
  • Initiation of systemic corticosteroids therapy within 6 months prior to start of study treatment
  • Change in systemic corticosteroid therapy (eg, change in type of drug, dose modification not related to body weight change, schedule modification, interruption, or reinitiation) within 3 months prior to start of study treatment
  • Any change (initiation, change in type of drug, dose modification, schedule modification,interruption, discontinuation, or reinitiation) in prophylaxis/treatment for congestive heart failure (CHF) within 3 months prior to start of study treatment
  • Ongoing use of coumarin-based anticoagulants (eg. warfarin), phenytoin, tolbutamide, or paclitaxel
  • Prior therapy with ataluren
  • Exposure to another investigational drug within 3 months prior to start of study treatment
  • History of major surgical procedure within 6 weeks prior to start of study treatment
  • Ongoing immunosuppressive therapy (other than corticosteroids)
  • Ongoing participation in any clinical trial (except for studies specifically approved by PTC Therapeutics)
  • Expectation of major surgical procedure (eg, scoliosis surgery) during the 12-month treatment period of the study
  • Requirement for daytime ventilator assistance. Note: Evening ventilator assistance and use of bi-level positive airway pressure (Bi-PAP) therapy is allowed
  • Uncontrolled clinical symptoms and signs of CHF (American College of Cardiology/American Heart Association Stage C or Stage D)

If you are interested in this study, please contact the Research Coordinator, Susan Gailey, CCRC, phone: (614) 355-2897.

A description of the study is also listed at the website with the identifier NCT01826487.


Natural History Study In Mucopolysaccharidosis Type III

Mucopolysaccharidosis (MPS) type III, also known as Sanfilippo syndrome, is a group of four genetic diseases. We are conducting a natural history study in MPS III. We will enroll a total of 30 subjects in this study; 15 subjects with MPSIIIA and 15 subjects with MPSIIIB.

  [read more...]

Principal Investigator:
Kevin Flanigan, MD

Kim McBride, MD
Haiyan Fu, PhD
Doug McCarty, PhD
Keith Yeates, PhD
Marco Corridore, MD

Mucopolysaccharidosis (MPS) type III, also known as Sanfilippo syndrome, is a group of four genetic diseases. These diseases result in a buildup of specific sugars in the brain and spinal cord. These diseases cause a decrease in mental function and the ability to move. They eventually result in death.

We are looking for patients for a study of the natural history of MPS type III, with the following goals:

  • To find how fast mental function and the ability to move decreases
  • To study the natural history and progress of the disease
  • To establish normal ranges of function in patients who will be potential subjects for a future treatment study using gene therapy
  • To find indicators of disease progression over one year. This will include changes in brain activity and in cerebrospinal fluid


Study Population

We will enroll 30 subjects total in this study. We will enroll 15 subjects with MPSIIIA and 15 subjects with MPSIIIB. All subjects must meet the following criteria:

  • Must be at least 2 years old
  • Must have genetic testing that confirms a diagnosis of MPSIIIA or MPSIIIB
  • Must have symptoms of the disease including mental decline
  • Must be able to participate in three clinical visits over the course of 1 year
  • Must not be taking any medication that prevents a spinal tap or use of anesthetics
  • Must be able to be safely sedated in the opinion of the clinical anesthesiologist


For more information regarding this study, please contact the Study Coordinator Krista Kunkler at 614-722-2238, or by email at


Clinical Outcomes Studies in Becker Muscular Dystrophy (BMD) and Sporadic Inclusion Body Myositis (sIBM)

Nationwide Children’s Hospital is currently recruiting participants to determine the validity of several outcome measures that may be used for future clinical studies. 

  [read more...]

Your participation will help design the tests to be performed to measure patient improvement in future clinical trials.  We will also add your information to our list of patients who you would like to be contacted about upcoming clinical trials for their specific diagnosis.

Participants must be able to walk for 6 minutes and have a documented diagnosis of:

Sporadic Inclusion Body Myositis (sIBM) or
Becker Muscular Dystrophy (BMD)

Participants will be asked to perform timed functional tests such as standing up from a chair, walking for 6 minutes, and having muscle strength tested.

Interested individuals should contact:
Linda Lowes


Lindsay Alfano

or call (614) 722-6881


The United Dystrophinopathy Project: Genotype/Phenotype Correlation and Natural History in the Dystrophinopathies

This NIH-funded project is directed at correlating mutations in the dystrophin gene with the severity and progression of disease in patients with Duchenne and Becker dystrophies.

  [read more...]

Study requirements include providing a blood sample for dystrophin gene mutation analysis, and visiting one of the participating centers for a yearly examination.  Mutation testing is performed at no cost to the patient by collaborators at the University of Utah Genome Center, and patients receive a copy of their genetic testing results.

Participating centers include:

  • Nationwide Children’s Hospital, Columbus, OH
  • Washington University, St. Louis, MO
  • University of Utah, Salt Lake City, UT
  • University of Iowa, Iowa City, IA
  • Children’s Hospital of Philadelphia, Philadelphia, PA
  • University of Minnesota, Minneapolis, MN
  • University of California, Davis, Sacramento, CA

Additional information is available at

Study Doctors

·         Kevin M. Flanigan, MD

·         Jerry R.Mendell, MD

Chelsea Rankin
(614) 355-2897


Featured Physician


Jerry Mendell, MD Jerry Mendell, MD
In 2004, Jerry Mendell, MD, was awarded the S. Mouchly Small Scientific Achievement Award from the Muscular Dystrophy Association, recognizing researchers who make significant contributions to neuromuscular disease research.

Learn more »

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