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Open Research Studies

Below is a list and brief description of ongoing CINRG research studies that are enrolling. This list is updated at frequent intervals. Additional information is available at Clinical Trials.gov, by sending an email to info@cinrgresearch.org and requesting information on current CINRG studies.

We are currently performing a two-year clinical trial that is looking to see if people with certain types of muscular dystrophy who are given Coenzyme Q10 (a nutritional supplement) or lisinopril (a drug) have less heart problems compared to people who receive enhanced standard care with being given a drug or nutritional supplement.

Title: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies (PITT0908)

Study Details: The purpose of the research study is to test an angiotensin converting enzyme (ACE) inhibitor, lisinopril, and an anti-oxidant, coenzyme Q10 (CoQ10), to ameliorate the decline in cardiac muscle function that occurs in muscular dystrophies.

The research study will include 120 participants aged 8 and up years old with Duchenne, Becker, or autosomal recessive limb-girdle (specifically: LGMD 2C-2F and 2I) muscular dystrophies. Participants will be seen at a participating CINRG center. This will be a 24-month, prospective, randomized study comparing a lisinopril arm, a CoQ10 arm (serum level of ≥ 2.5 µg/mL) and a combination arm with an enhanced standard of care arm.

Inclusion Criteria and Participants: 120 participants will be enrolled in this study. Participants must be over the age of 8 and must have a confirmed diagnosis of Duchenne, Becker, or autosomal recessive limb-girdle muscular dystrophies. Participants already taking an ACE inhibitor or CoQ10 are not eligible to participate.

Status: Enrollment pending regulatory approvals.

Participating CINRG Sites:

  1. University of Pittsburgh / Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA (Principal Investigator: Paula R. Clemens, MD)
  2. Children's National Medical Center, Washington, DC (Principal Investigator: Carolina Tesi-Rocha, MD)
  3. University of Tennessee, Memphis, TN (Principal Investigator: Tulio Bertorini, MD)
  4. University of Puerto Rico, San Juan, Puerto Rico (Principal Investigator: Jose Carlo, MD) Pending regulatory approval
  5. Hadassah, Hebrew University Hospital, Jerusalem, Israel (Principal Investigator: Yoram Nevo, MD) Pending regulatory approval
  6. Carolinas Medical Center, Charlotte, NC (Principal Investigator: Susan Sparks, MD)
  7. Unidad de Enfermedades Neuromusculares, Argentina (Principal Investigator:) Pending regulatory approval
  8. Children's Hospital of Westmead, Sydney, Australia (Principal Investigator: Andrew Kornberg, MD) Pending regulatory approval
  9. University of Minnesota Minneapolis, MN (Principal Investigator: John Day, MD)
  10. Alberta Children's Hospital, Calgary, Canada (Principal Investigator: Jean Mah, MD)
  11. National Center of Neurology and Psychiatry , Tokyo, Japan (Principal Investigator: Shin'Ichi Takeda, MD)
  12. 12. Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL (Principal Investigator: Nancy Kuntz, MD)
  13. Other CINRG sites may be added to this list

Questions: Please contact Andrea Smith at 412-383-7207 (smithal7@upmc.edu) or Lauren Hache at 412-224-2030 (LHache@childrensnational.org )

Sponsorship: This study is sponsored by the Department of Defense (DoD).


We have re-opened enrollment in our established Natural History Study of Duchenne muscular dystrophy. We are now recruiting a new group of boys with DMD ages 4-7, as well as a group of normally developing males ages 6-30.

Title: Longitudinal Study of the Relationship Between Impairment, Activity Limitation, Participation and Quality of Life in Persons with Confirmed Duchenne Muscular Dystrophy (UCD0305)

Study Details: The purpose of this study is to continue a world-wide, long-term study of people with Duchenne muscular dystrophy (DMD) that has been following over 300 families at universities and clinics around the world since 2005. In this study, we will take a detailed look at people's physical abilities across all ages, medical problems they experience, and how they use healthcare services. We will also look at how families of people with DMD interact with their communities and at their quality of life. One of the first uses of this study will be to see how long-term steroid therapy affects daily activities of study volunteers who use the drug. We will also being recruiting typically-developing male participants' ages 6 to 30 years old without Duchenne muscular dystrophy ("healthy male controls") to complete strength and function evaluations.

A second purpose of this study is to perform genetic analysis by looking at your genes, or recipes, that tell your body how to work. These genes (recipes) are made up of four letters (A, T, G, C) called DNA which spell out a meaningful code. A single change in the individual letters can sometimes affect how a disease progresses, and how an individual may respond to steroids. These single changes in your genes are called Single Nucleotide Polymorphisms or "SNPs". We would like to perform genetic tests to see how SNPs relate to muscle strength and size, as well as steroid response. In addition, we will look at your genes to determine how they vary from individuals without DMD in studies called genome-wide association studies (GWAS). Both of these tests can be done by collecting a small blood sample at the first study visit.

Another purpose of this study is to collect a sample of blood to study whether certain proteins are present in people with DMD and not in healthy controls. Proteins are the "workers" in our organs and cells and help the parts of the body do their jobs correctly. When people have a disease like DMD, those proteins can be different or out of balance compared to people without the disease. Then they are called "biomarkers". Very few biomarkers are available for DMD and this part of the study may help identify important biomarkers found in the blood. Those biomarkers might be used to tell researchers and doctors more about DMD and how it progresses.

Inclusion Criteria and Participants: This study is has re-opened enrollment for two groups of individuals:

  1. 100 boys between ages 4-7 years
  2. 370 typically developing males between ages 6 and 30

Status: Enrollment pending regulatory approvals for the two new groups. Active protocol visits for the individuals who were previously enrolled.

Participating CINRG Sites:

  1. Children's National Medical Center located in Washington, DC (Principal Investigator: Mathula Thangarajh)
  2. Children's Hospital of Virginia located in Richmond, VA (Principal Investigator: Jean Teasley, MD)
  3. University of Pittsburgh / Children's Hospital of Pittsburgh of UPMC located in Pittsburgh, PA (Principal Investigator: Paula R. Clemens, MD)
  4. University of Tennessee-Memphis located in Memphis, TN (Principal Investigator: Tulio Bertorini, MD)
  5. University of Puerto Rico located in San Juan, PR (Principal Investigator: Jose Carlo, MD)
  6. Washington University located in St. Louis, MO (Principal Investigator: Anne Connolly, MD)
  7. Bloorview MacMillan Medical Center located in Toronto, ON, Canada (Principal Investigator: Laura McAdams, MD)
  8. Apollo Hospitals located in Chennai, India (Principal Investigator: Dr. V.Viswanathan.,MRCP,P.hd)
  9. Royal Children's Hospital located in Melbourne, Australia (Principal Investigator: Andrew Kornberg, MD)
  10. Muscular Dystrophy Association clinic located in Buenos Aires, Argentina (Principal Investigator: Alberto Dubrovsky, MD)
  11. Mayo Clinic located in Rochester, MN (Principal Investigator: John Bodensteiner, MD)
  12. University of California, Davis located in Sacramento, CA (Principal Investigator: Craig McDonald, MD)
  13. Queen Silvia Children's Hospital-Linkoping located in Goteborg, Sweden (Principal Investigator: Mar Tulinius, MD)
  14. Children's Hospital at Westmead-Sydney located in Sydney, Australia (Principal Investigator: Richard Webster, M.B.B.S. Hon (NSW), M. Sc., F.R.A.C.P)
  15. University of Minnesota located in Minneapolis, MN (Principal Investigator: Peter Karachunski)
  16. Alberta Children's Hospital located in Calgary, AB, Canada (Principal Investigator: Jean Mah, MD)
  17. Texas Children's Hospital located in Houston, TX (Principal Investigator: Timothy Lotze, MD)
  18. University of Alberto located in Edmonton, AB, Canada (Principal Investigator: Hannah Kolski, MD)
  19. Centro Clinico Nemo located in Milano, Italy (Principal Investigator: Ksenija Gorni, MD)
  20. Carolinas Medical Center, Charlotte, NC (Principal Investigator: Susan Sparks, MD)
  21. Lurie Children's Hospital of Chicago, IL (Principal Investigator: Nancy Kuntz, MD)
  22. Duke University, NC, (Principal Investigator: Edward Smith, MD)
  23. Additional CINRG sites may be added to this list

Questions: For questions about this research study please contact Zoe Sund at (202) 476-4110/ZSund@childrensnational.org .

Sponsorship: This study is sponsored by the National Institutes of Health (NIH), and the Department of Defense (DoD), and Department of Education and Parent Project Muscular Dystrophy

This study is listed at clinicaltrials.gov:
http://www.clinicaltrials.gov/ct2/show/NCT00468832?term=duchenne&rank=33


We are currently performing a three year study to learn more about the disease progression and quality of life in patients with Becker muscular dystrophy (BMD) who have particular types of changes in their dystrophin gene.

Title: Becker Muscular Dystrophy — A Natural History Study to Predict Efficacy of Exon Skipping (PITT0112)

Study Details: The purpose of this study is to understand the disease progression and quality of life in patients with BMD who have certain changes to their dystrophin gene. The dystrophin changes that we are studying are those that correspond to the changes created by certain exon skipping treatments for individuals with Duchenne muscular dystrophy (DMD). The information collected will help us understand the clinical progression and quality of life that would result from treating individuals with DMD with exon skipping therapies.

Participants will be seen at a participating CINRG center. This study will include four study visits over the course of three years. The first visit will be at baseline, and then study visits will occur at 12, 24, and 36 months.

Inclusion Criteria and Participants:
A total of 80 participants with BMD ages 4 years and older will be enrolled. Participants must have one of five different changes to the dystrophin gene that are most commonly seen in patients with BMD, and which correspond with dystrophin changes in DMD patients treated with exon skipping therapies. These specific gene changes are:

  • Deletion of exons 45-47, or
  • Deletion of exons 45-48, or
  • Deletion of exons 45-51, or
  • Deletion of exons 45-53, or
  • Deletion of exons 48-51

Status: Enrollment pending regulatory approvals.

Participating CINRG Sites:

  1. University of Pittsburgh / Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA (Principal Investigator: Paula R. Clemens, MD)
  2. Additional sites to be added pending regulatory approval

Questions: Please contact Lauren Hache at 412-224-2030 (LHache@childrensnational.org) or Andrea Smith at 412-383-7207 (smithal7@upmc.edu).

Sponsorship: This study is sponsored by the National Institutes of Health (NIH)

This study is listed at clinicaltrials.gov: http://www.clinicaltrials.gov/ct2/show/NCT01539772?term=becker+muscular+dystrophy&recr=Open&rank=3


We are currently performing a one visit study to learn more about the clinical presentation and quality of life in patients with infantile onset facioscapulohumeral muscular dystrophy.

Title: A multicenter collaborative study on the clinical features, expression profiling, and quality of life of infantile onset facioscapulohumeral muscular dystrophy (ACH0311)

Study Details: The purpose of this study is to better understand the rare infantile onset form of facioscapulohumeral muscular dystrophy (iFSHD), including the clinical features, cross-cultural presentation, and the psychosocial impact of iFSHD on affected individuals. We also want to establish a standardized clinical assessment panel that may be used in future treatment studies. This study will look at how iFSHD affects several parts of the body and how it affects quality of life for people living with this health condition. Finally, this study will explore biological variations in individuals that may affect their clinical symptoms.

Participants will be seen at a participating CINRG center. This study will include one study visit, with the possibility of a second study visit within 30 days if all assessments could not be completed initially.

Inclusion Criteria and Participants:
A total of 50 participants with iFSHD will be enrolled in the study. Participants of any age are eligible as long they had an onset FSHD symptoms prior to age 11. Participants must have genetic confirmation of their FSHD diagnosis.

Status: Enrollment pending regulatory approvals.

Participating CINRG Sites:

  1. Children's National Medical Center located in Washington, DC (Principal Investigator: Mathula Thangarajh)

  2. University of Pittsburgh / Children's Hospital of Pittsburgh of UPMC located in Pittsburgh, PA (Principal Investigator: Paula R. Clemens, MD)

  3. University of Tennessee-Memphis located in Memphis, TN (Principal Investigator: Tulio Bertorini, MD)

  4. Washington University located in St. Louis, MO (Principal Investigator: Anne Connolly, MD)

  5. Royal Children's Hospital located in Melbourne, Australia (Principal Investigator: Andrew Kornberg, MD)

  6. University of California, Davis located in Sacramento, CA (Principal Investigator: Craig McDonald, MD)

  7. Queen Silvia Children's Hospital-Linkoping located in Goteborg, Sweden (Principal Investigator: Mar Tulinius, MD)

  8. Children's Hospital at Westmead-Sydney located in Sydney, Australia (Principal Investigator: Richard Webster, M.B.B.S. Hon (NSW), M. Sc., F.R.A.C.P)

  9. University of Minnesota located in Minneapolis, MN (Principal Investigator: Peter Karachunski)

  10. Alberta Children's Hospital located in Calgary, AB, Canada (Principal Investigator: Jean Mah, MD)

  11. Texas Children's Hospital located in Houston, TX (Principal Investigator: Timothy Lotze, MD)

  12. University of Alberto located in Edmonton, AB, Canada (Principal Investigator: Hannah Kolski, MD)

  13. Carolinas Medical Center, Charlotte, NC (Principal Investigator: Susan Sparks, MD)

  14. Lurie Children's Hospital of Chicago, IL (Principal Investigator: Nancy Kuntz, MD)

  15. Duke University, NC, (Principal Investigator: Edward Smith, MD)

  16. Newcastle University, Newcastle (Principal Investigator: Michela Guglieri, MD)

  17. Additional sites to be added pending regulatory approval

Questions: Please contact Zoe Sund at (202) 476-4110/ZSund@childrensnational.org

Sponsorship: This study is sponsored by the United States FSH Society and Muscular Dystrophy Canada

This study is listed at clinicaltrials.gov: http://clinicaltrials.gov/ct2/show/NCT01437345?term=FSHD&rank=2


We are collecting blood and skin samples of participants who are diagnosed with Duchenne muscular dystrophy (DMD) and carry one of nine specific changes in the dystrophin gene to create a tissue bank for future research purposes.

Title: Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping (CHAR0312)

Study Details: The purpose of this tissue bank is to collect blood and skin samples from participants who are diagnosed with Duchenne muscular dystrophy (DMD) and carry one of nine specific changes in the dystrophin gene. The specific dystrophin changes that we are interested in studying are those that would work with exon-skipping therapies in patients with DMD, specifically deletions of the follow exons: 44, 45-50, 45-52, 46-47, 46-48, 46-51, 48-50, 48-52, and 49-50. These blood and skin samples will be held in a tissue bank at Carolinas Medical Center for future DMD research.

Inclusion Criteria and Participants: 60 participants will be enrolled in this study. Participants must be over the age of 4 and must have a confirmed diagnosis of DMD with one of the nine listed dystrophin deletions.

Status: Enrollment pending regulatory approvals.

Participating CINRG Sites:

  1. Carolinas Medical Center, Charlotte, NC (Principal Investigator: Susan Sparks, MD)
  2. University of Pittsburgh / Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA (Principal Investigator: Paula R. Clemens, MD)
  3. Additional sites to be added pending regulatory approval

Questions: Please contact Lauren Hache at 412-224-2030 (LHache@childrensnational.org) or Andrea Smith at 412-383-7207 (smithal7@upmc.edu)

Sponsorship: This study is sponsored by the National Institutes of Health (NIH)

Last Updated: June 30, 2014

 

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