Click here to download a PDF of all current clinical trials

We are seeking volunteers for a clinical trial testing effects of Eplerenone (a medicine used in patients with heart disease) on the heart in boys and young men with DMD. We are using MRI and blood tests to measure the amount of scar and injury present in your heart before and after taking study medication. This study is sponsored by Dr. Subha Raman at Ohio State University and Dr. Nancy Halnon from the Division of Pediatric Cardiology at UCLA. If you have questions please email nhalnon@mednet.ucla.edu or call (310) 825-5296 for information. Please click below for more information.

Flyer

FAQ's about this study

Research Study for Males 7 Years or Older with Duchenne Muscular Dystrophy
Investigational Drug for the Early Treatment of Cardiomyopathy in DMD
This study is being sponsored by Dr. Subha Raman at Ohio State University (Nationwide Children’s Hospital) with study sites at Cincinnati Children’s Hospital and in Los Angeles at UCLA (Mattel Children’s Hospital)

  • The purpose of this study is to determine if eplerenone, a type of medication typically used for advanced heart failure patients, in combination with another medicine (ACE-I or ARB) can prevent heart muscle damage in people with Duchenne Muscular Dystrophy (DMD).

  • If you are a male with DMD, at least 7 years old and:
    • can undergo a cardiac MRI scan without sedation and follow breath-hold instructions
    • no kidney problems
    • not on eplerenone or other drugs like it
    • have preserved left ventricular systolic function
    • participation is open to boys at any stage of mobility if able to transfer into MRI scanner

  • The study lasts for 12 months

  • After the initial (baseline) screening visit, there are five study visits during a 12-month period.
  • The study visits will happen at 2 weeks, one month, 2 months, 3 months, six months, 9 months, and 1 year.

  • The baseline visit will take place at UCLA. If you have had recent cMRI at Cincinnati Children’s Hospital or Nationwide Children’s Hospital you may be able to complete most study visits at UCLA.

  • Participants will be randomly assigned to receive either eplerenone (the study drug) or a placebo. A placebo is an inactive substance that looks like the study drug, but contains no medication.
  • Participants will take assigned drug every other day for one month.
  • If after one month, levels of potassium and creatinine (markers of kidney function) are normal, participants will continue to take the drug once daily for the remainder of the study.
  • All participants will have blood drawn at the baseline visit as well as at 2 weeks and months 1, 2, 3, 6, 9 and 12.
  • All participants will have a cardiac MRI scan at the baseline, 6 and 12 months.

  • There is no payment for participating in the study but you will be reimbursed for parking and receive a gift card to cover expenses.
  • The blood draws at 2 weeks, and at months 1, 2,3, 6 and 9 will be paid for by the study.
  • The cardiac MRI scan at the 6 month visit will be paid for by the study. The scans at the baseline and 12 month visit may be paid for by the study if your insurance plan will not cover it.
  • The study drug will be provided for free.

  • If the results are promising, your physician may choose to prescribe this medication to you or your child after the study has ended.

  • While no personal benefit can ever be guaranteed, there are other benefits to participating in a research study. You may be able to:
    • play an active role in your own health care (or that of your child)
    • gain access to new research treatments before they are widely available
    • have access to medical specialists who may not normally be available and/or
    • help others by contributing to the better understanding and treatment of DMD-associated heart disease.

Purpose
Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 study is to evaluate the effect of ataluren on walking ability. The effect of ataluren on physical function, quality of life, and activities of daily living will be evaluated. This study will also provide additional information on the long-term safety of ataluren.

Eligibility

  • Ability to provide written informed consent (parental/guardian consent if applicable)/assent per local requirements
  • Male sex
  • Age ≥7 and ≤16 years
  • Phenotypic evidence of dystrophinopathy based on the onset of characteristic clinical symptoms or signs (eg. proximal muscle weakness, waddling gait, and Gowers' maneuver) by 6 years of age, an elevated serum creatinine kinase level, and ongoing difficulty with walking
  • 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
  • Documentation that a blood sample has been drawn for confirmation of the presence of a nonsense mutation in the dystrophin gene
  • 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 treatment and a reasonable expectation that dosage and dosing regimen will not change significantly for the duration of the study
  • Ability to walk ≥150 meters unassisted during the 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)
  • Willingness to abstain from sexual intercourse or employ an approved method of contraception during the period of study drug administration and 6-week follow-up period
  • Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions

Click here for more information

Purpose
The study will include 120 participants aged 8 and up with Duchenne, Becker, or autosomal recessive limb-girdle (specifically: LGMD 2C-2F and 2I) muscular dystrophies that have no clinical cardiac symptoms. Participants will be randomized to one of four arms: Arm 1 CoQ10 alone, Arm 2 Lisinopril alone, Arm 3 CoQ10 and Lisinopril or Arm 4 No study medication. Randomization will be stratified by ambulatory status and corticosteroid use. The primary outcome for the study is the myocardial performance index (MPI), measured by standard Doppler echocardiography. The study will last 24 months with visits at Months 0.5,1.5, 3, 6, 9, 12, 18 and 24.

Eligibility

  • 8 years of age or older
  • Confirmed genetic diagnosis of Duchenne, Becker, or Limb Girdle muscular dystrophy
  • Beta-blocker na├»ve
  • Screening Doppler echocardiographic MPI measurement greater than 0.40
  • Normal left ventricular fractional shortening (≥28%) and no clinical cardiac symptoms
  • Has not participated in other therapeutic research protocol within the last 6 months prior to screening
  • Ability to swallow tablets

Click here for more information

Purpose
The Finding the Optimum Regimen for Duchenne Muscular Dystrophy (FOR DMD) study will compare three ways of giving corticosteroids to boys with Duchenne muscular dystrophy (DMD) to determine which of the three ways increases muscle strength the most, and which causes the fewest side effects. Using the results of this study, the investigators aim to provide patients and families with clearer information about the best way to take these drugs.

Eligibility

  • Male
  • Evidence of signed and dated informed consent form.
  • Confirmed diagnosis of Duchenne muscular dystrophy
  • Age greater than or equal to 4 years and less than 8 years old
  • Ability to rise independently from floor, from supine to standing
  • Willingness and ability to comply with scheduled visits, drug administration plan and study procedures
  • Ability to maintain reproducible FVC measurements.

Click here for more information

Intervention: Comparing dosages of Prednisone and Delfazacort corticosteroids
Participants: Males 4-7 years with DMD who have not previously received corticosteroids
Contact: Katrina Nguyen (310) 206-9089 or KatrinaNguyen@mednet.ucla.edu

Intervention: Measuring the efficacy of weekly Eteplirsen IV infusion
Participants: Males 7-16 years with DMD. Treated group must have genetic confirmation of DMD amenable to exon 51 skipping. Control group will have confirmation of DMD amenable to skipping of an exon other than 51. Six Minute Walk Test distance of 300 meters or greater
Contact: Juan Valderramos (310) 825-3264 or JValderramos@mednet.ucla.edu

Download more information here

Intervention: Measuring the safety and tolerability of Eteplirsen in advanced stage DMD
Participants: Males 7-21 years with DMD amenable to exon 51 skipping. Non-ambulatory or Six Minute Walk Test distance less than 300 meters.
Contact: Juan Valderramos (310) 825-3264 or JValderramos@mednet.ucla.edu

Download more information here

Intervention: Measuring the dosing pharmacokinetics of oral Deflazacort
Participants: Males 4-16 years with DMD who has not previously received Deflazacort
Contact: Juan Valderramos (310) 825-3264 or JValderramos@mednet.ucla.edu

Intervention: Measuring the safety and tolerability of oral Deflazacort
Participants: Males 4-16 years with DMD who participated in the MP-104-CL-005 PK study
Contact: Juan Valderramos (310) 825-3264 or JValderramos@mednet.ucla.edu

Intervention: Measuring the safety and efficacy of PF-06252616
Participants: Ambulatory males 6-9 years with DMD who are able to perform the 4 stair climb in > or = 0.33 but < 1.6 stairs/second
Contact: Juan Valderramos (310) 825-3264 or JValderramos@mednet.ucla.edu

Intervention: Measuring the effects of Eplerenone compared to spironolactone on heart function
Participants: Males 10 years or older, non-ambulatory with DMD
Contact: Dr. Nancy Halnon (310) 267-7667 or nhalnon@mednet.ucla.edu

Intervention: None, patient registry
Participants: Patients with DMD or BMD
Contact: DuchenneConnect Coordinator (201) 937-1408 or coordinator@duchenneconnect.org

Download more information here

Click here to download a PDF of all current clinical trials

This patient registry will determin the rate at which children suffer from sudden cardiac death and whether therapy with internal cardiac defibrillators is beneficial. This is an international, multisite research study.

Qualified participants must be at least 10 years old and have Duchenne muscular dystrophy and a weak heart (ejection fraction less than or equal to 35%) or have a heart device (pacemaker, ICD).

There is not cost to participate in the registry and no payment provided. Participation is voluntary.
This study is sponsored by Nationwide Children's Hospital

If you feel you may be eligible, please contact:
Dr Nancy Halnon
Division of Pediatric Cardiology-Mattel Children's Hospital, UCLA
300 Medical Plaza, Suite 300
Los Angeles, CA 90095
(310) 267-7667

If you wish to contact the investigators by email, please be aware that e-mail communications may not be secure. Do not include any sensitive health information if you choose to communicate with the study team by email.

Protocol ID:IRB#14-001101 | UCLA IRB Approved | Approval Date: 9/5/2014 | Through: 9/4/2015 | Committee: Medical IRB 1

Download more information here

The purpose of this study is to improve the understanding of the changes in function over time in boys with Duchenne Muscular Dystrophy (DMD) using objective outcome measures. Parents complete quality of life, behavior and function questionnaires while child participate in evaluations. If you have questions, please contact Eileen Fowler at (310) 825-4028 or efowler@mednet.ucla.edu

Who is appropriate for the study?

  • Diagnosis of DMD
  • Male
  • Four years of age or older
  • Can be on or off corticosteroids
  • Able to walk independently for 10 minutes at self-selected speed
  • Able to understand directions for testing procedures
  • Able to complete up to four hours of testing

Click here for more information

Recruitment announcement: Genetic modifiers of Duchenne and Becker Muscular Dystrophy

Take our survey

UCLA researchers within the Center for Duchenne Muscular Dystrophy (CDMD) are seeking individuals with Duchenne Muscular Dystrophy to participate in a DNA research study to identify genes and gene variants that may modify the disease process.

All ages may participate. Of high priority, is the recruitment of boys with DMD who require the full time use of a wheelchair prior to age 8, and boys past age 13 still able to walk independently. Individuals affected with Duchenne or Beckers with early onset cardiomyopathy are also of interest. Other people affected by DMD or BMD may be included at the discretion of the study’s principal investigator (PI). Please contact Dr. Stanley Nelson.

Participation consists of completion of

  • a brief one page questionnaire that is emailed to you, and returned by email
  • blood draw or saliva collected near your home, at UCLA or at your local doctors office
  • a signed consent form

UCLA researchers will isolate and purify DNA from the blood/saliva and store this DNA with a coded identifier. The whole genome (all genes) will be sequenced to search for genetic variants that may make some DMD individuals more or less severely affected. The stored DNA can be used for future analysis, and data will be shared with other researchers. Contact information will be stored so that updates to your disease course can be provided. The confidentiality of identifiable data is assured and only the PI and his proxys will have access to them.

For more information please contact:

Stanley F. Nelson, MD (Principal Investigator)
Center for Duchenne Muscular Dystrophy
Professor of Human Genetics
David Geffen School of Medicine at UCLA
Los Angeles, CA 90095
Phone: (310) 991-2635
Email: snelson@ucla.edu

Emilie Douine, MS
Center for Duchenne Muscular Dystrophy
David Geffen School of Medicine at UCLA
Los Angeles, CA 90095
Phone: (310) 267-2416
Email: edouine@mednet.ucla.edu

Why Genetic modifiers of Duchenne? A brief explanation.

This study seeks to study the effect of genetics on the progression of Duchenne muscular dystrophy. To accomplish this, we are seeking boys and men with DMD who have unusual progression in terms of ambulation or cardiomyopathy.

Even though the dystrophin gene (DMD) responsible for Duchenne and Becker was identified in 1987, we still have lots of questions about the progression of the disease. From observational studies, we know the major milestones of Duchenne occur in a predictable order: trouble walking, at an early age, transition to fulltime wheelchair around ages 9 to 13 and heart or respiratory troubles in later years.

What is surprising to researchers is the wide variability in some of these stages. For instance, the age when a DMD patient begins using a wheelchair full time can vary by more than 10 years! Figure 1 shows this for patients in the DuchenneConnect Registry. This is true even among brothers with Duchenne. Such cases are extreme, but they provide fertile ground for research to find other contributing factors.

How to account for such a disparity? As many studies have shown, corticosteroid use can account for 2-3 years of delay in walking ability (Figure 2). Environment certainly plays a role. But another aspect is the genetic contribution from one or more of the other 20,000 genes in the human genome. It is known that some genes can affect how well another gene is activated or repressed. Others genes may be able to compensate for the missing dystrophin protein while others yet may worsen the onset of the disease.

Every human has genetic variants spread across their genome. Even identical twins will have a few variants that the other doesn’t have! We can capitalize on these individual variants by grouping together, for instance, relatively mildly affected Duchenne individuals. If, as a group, they tend to have lots of variants in particular genes more often than the general population, then we have a clue that this gene may be important. This same idea can be applied to severely affected individuals as well, hopefully giving us an idea of another gene involved in Duchenne.

So how do we define severe or mild? This is a difficult question, but for this project we decided to use age at which Duchenne individuals transition to full time use of a wheelchair. This is also called age at loss of ambulation. We like this measure because it is easily remembered and used by many other researchers.

We also can look at other dimension of Duchenne. For cardiomyopathy, for example, we look at boys with an ejection fraction of less than 55% before the age of 17 (a normal heart's ejection fraction may be between 55% and 70%). This is again, unusual among the general group of patients with DMD.

The shape of the plot for age at loss of ambulation (Figure 1) fits very well with a typical bell shaped curve (Figure 3). This is typical of traits under the control of several genes. By focusing on the more extreme tails (the red regions of Figure 3), we are trying to find a smaller number of genes (maybe just one) that contribute a large amount to the trait of interest, age at loss of ambulation in this case. With smaller the number of genes involved, the easier it is to hone in on promising candidates. Crucially, the success of studies like these relies on recruiting enough participants. The larger the study sample, the more power we have to see what genes contribute greatest to disease progression. Once we identify a gene or genes that look promising, we can look for drugs, therapies or strategies that target that gene of interest.

I hope this gives you some insight into our study. Feel free to ask questions and please enroll and pass along to others who might be interested.

Download more information here

UCLA researchers are seeking individuals with Duchenne Muscular Dystrophy and their family members to participate in a research study funded by the National Institutes of Health (NIH) & California Institute for Regenerative Medicine (CIRM).

We want to biopsy skin and/or draw blood to create permanent cell lines for laboratory studies of cells. We will convert the skin biopsy sample into a stem cell lines and make muscle cells in culture, which will permit researchers to have valuable tools to explore the causes of muscular dystrophy and research new therapies.

All ages may participate. To participate, individuals must complete and return informed consent form, available on request from Dr. Nelson. Individuals may be requested to either have skin biopsy performed to remove 3mm of skin and/or have blood draw performed to provide genomic DNA for gene sequencing. Estimated time of participation is 1 hour, and both procedures can typically be performed locally with shipment of samples to UCLA.

If you are interested, please contact:

Stanley F. Nelson, MD
Center for Duchenne Muscular Dystrophy
Professor of Human Genetics
David Geffen School of Medicine at UCLA
Los Angeles, CA
Phone: 310 991 2635
Email: snelson@ucla.edu

Click here for more information

Download the flyer here

The purpose of this study is to develop sensitive outcome measurements for use in clinical trials and to improve understanding of changes in strength, motor function and lean body mass over time in boys with Duchenne Muscular Dystrophy (DMD). Participants will receive evaluations of strength and motor function and a non-invasive body scan every 6 months for 18 months.

Who is appropriate for the study?

  • Diagnosis of DMD
  • Male
  • Four years of age or older
  • Can be on or off corticosteroids
  • Able to walk with or without assistive devices
  • Able to understand directions for testing procedures
  • Able to lie still for approximately 2 minutes

If you are interested, please contact:

Eileen Fowler, PhD
Center for Duchenne Muscular Dystrophy
Professor, UCLA Orthopaedic Surgery
Phone: (310) 825-4028
Email: efowler@mednet.ucla.edu

Click here for more information