Completed Clinical Trials
NIFD: National Initiative for Families with Duchenne
Please click HERE to take the survey!
Purpose:
The purpose of this survey is to collect information about families of people with Duchenne muscular dystrophy (DMD) all over the USA. The survey will ask for information about the impact of DMD on your family, the needs of your family for health services, your use of those health services, the overall wellness of people with DMD in your family and your attitude toward newborn screening for DMD. This survey will assist us to identify areas of need in health care services and research to improve overall DMD management of care.
Further Study Details:
WHY IS THIS SURVEY IMPORTANT?
- DMD is a common disease, affecting about 1 in 3500 boys.
- People with DMD have the highest annual cost for outpatient rehabilitation.
- This is the first time a large-scale survey has been done in the USA.
- There may be differences across the country in the way people with DMD receive their care, and how that care influences their health and quality of life. We will compare your answers to others around the country to look for differences that might help us find out what works best to keep people with DMD as healthy as possible.
- It is not known whether neonatal screening programs that can help families find out that their child has DMD shortly after birth actually help. We would like your opinions about neonatal screening, whether your child was diagnosed with DMD through a screening program or not. It will help us to look for differences between those who have and have not participated in such programs to see whether they are useful or not.
CNMC0601: Prednisone High Dose vs. Daily in Duchenne Muscular Dystrophy
Purpose:
This study was to help determine whether a high-dose weekly course of prednisone therapy is safer than and at least as effective as daily dose therapy for people with Duchenne muscular dystrophy (DMD). Boys enrolled in this study had not taken carnitine, other amino acids, creatine, glutamine, Coenzyme Q10 or any herbal medicines within the last three months. In this study, participants were randomized into groups after being screened to determine eligibility. Participants were then followed for a 12-month period with follow-up visits at month one, three and then every three months.
Further Study Details:
Duchenne muscular dystrophy (DMD) is the most common lethal inherited disorder worldwide. Despite the exponential increase in our understanding of the disorder since the discovery and characterization of the causative gene and its product dystrophin in 1987, current therapeutic management remains largely supportive. Awaiting a final genetic cure to be available in the future, further investments in developing better drug therapies for DMD remain important. The effect of a high dose prednisone regimen was evaluated in comparison to a daily dose regimen in a multi-center, randomized, double-blind placebo-controlled 4-arm study. Ambulant children aged 4-10 years with an established DMD diagnosis were studied. Patients underwent 2 screening evaluations within 1 week. Patients were randomized into treatment groups on the second screening visits, followed by a 12-month treatment period. During the treatment period, patients were evaluated at monthly intervals. The primary endpoints were percentage change in average muscle strength score and QMT performance for specific muscle groups. Secondary endpoints included timed function tests, functional grades for arms and legs, and pulmonary function tests.
Results
Please see http://www.mda.org/research/080415dmd_prednisone.html for the results of this study.
CNMC0705: A Double-Blinded Randomized Placebo Controlled Study of Daily Pentoxifylline as a Rescue Treatment in Duchenne Muscular Dystrophy
Purpose:
In this study Pentoxifylline was added as a rescue treatment to patients who were taking steroids (the same amount for at least 1 year), but were either stable (no improvement of muscle strength over three months) or had continued to slowly deteriorate. Patients were not excluded if they are taking any combination of herbal supplements or vitamins as long as the dosing had been stable for 2 months.
Further Study Details:
Duchenne muscular dystrophy (DMD) is the most common lethal inherited disorder worldwide. Despite the exponential increase in our understanding of the disorder since the discovery and characterization of the causative gene and its product dystrophin in 1987, current therapeutic management remains largely supportive. Awaiting a final genetic cure to be available in the future, further investments in developing better drug therapies for DMD remain important. This study was designed as a randomized, placebo controlled study. Patients were enrolled in the study after showing similar muscle testing results during the screening visit. Sixty-four patients were randomized into the pentoxifylline arm or a placebo arm. Subjects were evaluated by quantitative muscle testing (QMT), manual muscle testing (MMT), timed function testing, functional evaluation and pulmonary function tests, and measurement of contractures. At each visit, subjects also underwent medical history review and safety evaluation
Results
The results of this study show that Pentoxifylline was reasonably well tolerated over the study year. However, the data did not confirm any additional benefit in terms of increasing muscle strength or function, or slowing disease progression in the study population of ambulant boys 7 years and older with DMD who have been on a stable steroid dose. In addition, we were unable to find any benefit in prevention of contractures. The group of boys who received Pentoxifylline showed significantly more mild side effects which included increased bruising, mild nose bleeds and nausea. Consequently, we do not recommend Pentoxifylline as an adjunct to steroid treatment.
PITT0503: Clinical Trial of CoenzymeQ10 and Prednisone in Duchenne Muscular Dystrophy
Status: Currently Recruiting
Purpose:
This study will help determine if CoQ10 and prednisone, alone and as a combination decrease the decline in cardiopulmonary and skeletal muscle function that occurs in the wheelchair confined phase of DMD. Participants who are enrolled in this study should not have taken any corticosteroids within the last six months. This is a 13-month, prospective, randomized study comparing daily prednisone, CoQ10 and a combination (prednisone and CoQ10) with an enhanced standard of care in wheelchair confined males age 10 to 18 years with an established DMD diagnosis.
Further Study Details:
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy affecting 1:3500 male births worldwide. Despite an increase in our understanding of the disorder since the discovery and characterization of the causative gene and its product dystrophin in 1987, current therapeutic management remains largely supportive. Improvement in the treatment of DMD will depend upon the development of better therapies. Affected boys become symptomatic at 3 to 5 years of age with proximal leg weakness that impairs mobility, ability to get up from a squat, and precludes a normal ability to run. By 8 years of age, some affected boys begin to lose the ability to walk and resort to a wheelchair for mobility. This shift from the ambulant to non-ambulant phase occurs in all boys with a diagnosis of DMD by age 12 years. In this study, participants will be randomized into groups after being screened to determine eligibility. Participants will then be followed for a 12-month investigation period.
CNMC0599: A multicenter randomized placebo-controlled double-blind study to assess the efficacy and safety of glutamine and creatine monohydrate in Duchenne muscular dystrophy
Purpose:
1. To establish a collaborative group of clinical trial centers, with standardized equipment and protocols, able to conduct both drug and gene therapy trials in DMD. 2. To evaluate the therapeutic effect of glutamine and creatine monohydrate on muscle strength in children with DMD. 3. To validate the use of QMT (quantitative muscle strength testing) and gait analysis in children with DMD as reliable tools to quantify muscle strength, monitor disease progression and assess therapeutic response.
Further Information:
The effect of glutamine (0.6 g/kg/day) and creatine monohydrate (5 g/day) on muscle strength was evaluated in a multicenter randomized double-blind placebocontrolled 3-armed study. Ambulant children aged 5 to 10 years with an established DMD diagnosis were studied. Patients underwent 2 screening evaluations within 2 weeks. Patients were randomized into treatment groups on the second screening visit, followed by a 6-month treatment period. During the treatment period, patients were evaluated at monthly intervals.
Results
We found that creatine prevented strength deterioration in the older boys. In the younger group, strength did not deteriorate or got better, but there was a significant improvement in function over the 6 months of treatment. Glutamine also improved function in the younger boys and appeared to decrease strength deterioration in the older boys, but not to the same degree as creatine. There were no significant side effects.
In summary, treatment with creatine or glutamine does not improve strength to the same degree as treatment with a corticosteroid (prednisone or deflazacort), however both compounds might decrease deterioration and improve function in the younger boys. The treatments were found to be safe. Larger, age-stratified studies are needed to further confirm these results.
CNMC0301: An open-label pilot study of Coenzyme Q10 in steroid-treated Duchenne muscular dystrophy
Purpose
To evaluate the therapeutic effect of Coenzyme Q10 on muscle strength in children with DMD.
Further Information:
The effect of Coenzyme Q10 on muscle strength, at a therapeutic level of 2.5 ug/ml or higher, was evaluated in an open-label pilot study. Ambulant children aged 5 to 11 years with an established DMD diagnosis, on a stable steroids regimen, were studied. Subjects underwent one screening visit to ensure that they were able to participate in strength testing sessions. Successful subjects were enrolled and placed on oral CoQ10 supplements, after which a dose escalation period assured blood levels in the desired range. During the treatment period, patients were evaluated at monthly intervals.
Results:
This study shows that the addition of CoQ10 to prednisone treatment results in a statistically significant increase in muscle strength after 6 months of treatment. In contrast to the beneficial effect of Coenzyme Q10 observed in cardiomyopathies secondary to non-dystrophic disorders, supplementation with CoQ10 failed to show an improvement in cardiac function measured by LVEF, though this may be in part due to the mild degree of cardiomyopathy exhibited in our study population.
KUL0401: An open-label pilot study of oxatomide in steroid-naive Duchenne muscular dystrophy
Purpose:
To evaluate the therapeutic effect of the mast cell stabilizer oxatomide on muscle strength in children with DMD, through the CINRG network of clinical trial centers with standardized equipment/protocols and web-based data and safety review infrastructure.
Further Information:
Oxatomide has been widely used in humans as an anti-histaminic (Tinset®, Janssen-Cilag N.V.). Its mechanism of action is twofold: oxatomide inhibits the release of mediators from mast cells, and it acts as an H1-antihistaminic.
Results:
Please see http://www.ncbi.nlm.nih.gov/pubmed/17459739 for the results of this study.