Research

submenu

Clinical Research

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Natural History study – CINRG (Cooperative International Neuromuscular Research Group)
Longitudinal Study of the Relationship between Impairment, Activity Limitation, Participation and Quality of Life in Persons with Confirmed Duchenne Muscular Dystrophy (DMD)

Participants: males 2-30 years of age with DMD AND typically-developing males (controls)

This is a multicenter collaborative study looking at physical impairment and activity limitation over time. These research visits will occur every 3 months during the first year and once per year thereafter. During the visits, subjects will participate in a physician exam, physical therapy exam which will include muscle strength testing, timed functional testing, and pulmonary function testing, and be asked to complete quality of life questionnaires. To be eligible for this study, you must be male between the ages of 2-30 years old with DMD. This particular study is also looking for control participants which would involve typically-developing males. For more information or to participate in this study, please contact the MD Center office at 612-626-0822 or mdcenter@umn.edu to be forwarded to the research coordinator.

Steriod study - FOR-DMD

Steriod study - FOR-DMD

Duchenne muscular dystrophy: double-blind randomized trial to find optimum steroid regimen

Participants: males 4-7 years of age with DMD

Many boys with DMD start a corticosteroid regimen treatment of either Prednisone or Deflazacort in order to slow down the disease progression. While we know that corticosteroids can slow down disease progression, we do not know which steroid does a better job at maintaining function with the least amount of side effects and we do not know whether daily or intermittent dosage is more effective. The purpose of this study is to gain more knowledge on which steroid regimen is most effective. The study is a multicenter, double blind study where neither patient nor the evaluators know which regimen the child is on. This study is designed to be completed during your regular scheduled clinic appointments and will include a physician assessment, physical therapy evaluation assessing lung function and muscle function, urine analysis, DXA scan, spine x-ray, Echocardiogram, EKG and blood draw. To be eligible for this study, you need to have a genetically confirmed diagnosis of DMD, be steroid naïve, have the ability to swallow pills and be between the ages of 4-7. For more information on this study or interest in participating in this study please contact the MD Center office at 612-626-0822 ormdcenter@umn.edu to be forwarded to the research coordinator.

Ataluren phase 3 – PTC therapeutic study

Ataluren phase 3 – PTC therapeutic study

A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients with Nonsense Mutation Dystrophinopathy

Participants: Males 7-16 years of age with a nonsense mutation dystrophinopathy and ambulatory

This is a multicenter, double-blind study conducted by PTC therapeutics looking at the effectiveness on improving function for those subjects with a dystrophinopathy and genetically confirmed as a nonsense mutation. Subjects will either be given the treatment drug (Ataluren) or will be given the placebo for 1 year. Assessments are completed every 2 months and consist of a physician examination, blood draw, urine sample, renal ultrasound, EKG, 6 minute walk test along with other timed functional tests, muscle strength testing and quality of life questionnaires. To qualify for this study, subjects must still be ambulatory and be on a stable corticosteroid regimen. For more information regarding this study or for interest in participating in this study, please contact the MD Center office at 612-626-0822 ormdcenter@umn.edu to be forwarded to the research coordinator.

Becker Muscular Dystrophy (BMD)

Becker Muscular Dystrophy (BMD)

Natural History study – CINRG study (Cooperative International Neuromuscular Research Group)
Becker Muscular Dystrophy – A Natural History Study to Predict Efficacy of Exon Skipping

Participants: Male with a diagnosis of BMD and a positive DMD deletion for exons 45-47, 45-48, 45-51, 45-53 OR 48-51.

This is a multicenter study looking at the natural history of disease progression in males with BMD in order to further predict efficacy of exon skipping treatments with common exon deletions. This study involves one yearly examination for four years. Each examination consists of a physician exam, a physical therapy assessment involving lung function testing and strength testing, as well as quality of life questionnaires. There is also a one-time optional blood draw, skin biopsy and muscle biopsy (for adult subjects only) that you may also participate in. If interested in participating in this study or for more information regarding this study, contact the MD Center office at 612-626-0822 ormdcenter@umn.edu to be forwarded to the research coordinator.

Facioscapulohumeral Muscular Dystrophy (FSHD)

Facioscapulohumeral Muscular Dystrophy (FSHD)

Infantile FSHD – CINRG study (Cooperative International Neuromuscular Research Group)
A multicenter collaborative study on the clinical features, expression profiling, and quality of life of infantile onsent facioscapulohumeral muscular dystrophy

Participants: Individuals with FSHD and symptoms prior to age 11

This is a multicenter collaborative study looking at the clinical features and quality of life of those with infantile FSHD. It is a one visit study which includes a physician assessment, ophthalmologic assessment, hearing assessment, speech assessment, cognitive assessment, functional evaluation, strength assessment, pulmonary function assessment and an optional blood draw. The study will take one to two days to complete. To be eligible for this study, you need to have genetically confirmed FSHD and you need to have had your first symptoms of the disease prior to age 11. For more information or to participate in this study, please contact the MD Center office at 612-626-0822 or mdcenter@umn.edu to be forwarded to the research coordinator.

FSHD - U of MN study

FSHD - U of MN study

Participants: Individuals with FSHD AND their family members

To better understand what causes the muscle weakness in FSHD, Michael Kyba, PhD, a researcher at the MD Center, would like to evaluate muscle by performing muscle biopsies on both affected and unaffected individuals. The unaffected individuals can be a sibling or a spouse. This muscle biopsy would be done on a research basis at our research clinic. The study requires fresh tissue, so unfortunately we cannot use samples from past biopsies. Muscle biopsies from affected and unaffected individuals would have to be done the same day. Ideally, unaffected individuals should be roughly the same age as the affected individual. For more information or to participate in this study, please contact the MD Center office at 612-626-0822 or mdcenter@umn.edu to be forwarded to the research coordinator. 
The University of Minnesota P30-funded Core Center provides research methods, specimens and support to help University of Minnesota MD Center investigators study muscle function and disease more thoroughly and efficiently.

 

Greg Marzolf Jr. Foundation Research Grant

The primary objective of the Greg Marzolf Jr Foundation grant program is to support new and existing innovative studies that focus on research in Muscular Dystrophy. The awards will be given in the form of seed grants (Approximately $25K, although subject to change) to assist investigators in the early or pilot phase of their studies. Preference will be given to those studies that focus on clinical trials and novel therapeutics for Duchenne MD.