Research Studies in Follow-Up
Below is a list and brief description of ongoing CINRG research studies that are in follow-up. This list is updated at frequent intervals. Additional information is available at Clinical Trials.gov or by sending an email to info@cinrgresearch.org and requesting information on current CINRG studies.Title: Cardiac Outcome Measures in Children with Muscular Dystrophy (PITT1109)
The purpose of the research study is to evaluate different cardiac measures that are obtained by echocardiographic tests in patients with muscular dystrophy.
Study Details: The research study will include 50 participants aged 8 to 18 years old (before 18th birthday) with Duchenne, Becker, or autosomal recessive limb-girdle (specifically: LGMD 2C-2F and 2I) muscular dystrophies. Participants will be seen in one of five Cooperative International Neuromuscular Research Group (CINRG) centers located in the United States. All study assessments will be completed in the same day and include reviewing past medical and surgical history, collecting vital signs, collecting cardiac measures through echocardiographic tests. This study may help lead to a better understanding of cardiac measurements in children with muscular dystrophy.
Inclusion Criteria and Participants: Participants must be between the ages of 8 and 18 years old and must have a confirmed diagnosis of Duchenne, Becker, or autosomal recessive limb-girdle muscular dystrophies.
Status: Enrolling in Pittsburgh; enrollment pending at other sites contingent regulatory approvals.
Participating CINRG Sites:
- University of Pittsburgh / Children's Hospital of Pittsburgh of UPMC located in Pittsburgh, PA (Principal Investigator: Paula R. Clemens, MD)
- Children's National Medical Center located in Washington, DC (Principal Investigator: Christopher Spurney, MD)
- Washington University located in St. Louis, MO (Principal Investigator: Anne Connolly, MD)
- Texas Children's Hospital located in Houston, TX (Principal Investigator: Timothy Lotze, MD)
- University of California, Davis located in Sacramento, CA (Principal Investigator: Craig McDonald, MD)
Sponsorship: NIH through CTSA program.
This study is listed at clinicaltrials.gov: http://clinicaltrials.gov/ct2/show/NCT01066455?term=cardiac+outcome+measures+in&rank=1
Title: Comparative Study of Clinical Endpoint in DMD: HHM vs. CQMS (CNMC0609)
Study Details: With increases in the numbers of experimental therapies and clinical trials in Duchenne Muscular Dystrophy (DMD), it is important to define reliable and sensitive endpoints that fulfill FDA requirements for relevance to quality of life. The aim of the proposed research is to compare two commonly used pediatric strength testing measures: handheld myometry (HHM) and CINRG Quantitative Measurement System (CQMS), with the goal of identifying a sensitive and valid tool for measuring muscle strength in children with DMD. The data obtained from this study will be used to make recommendations for strength measurement endpoints in prospective muscular dystrophy trials and provide more reliable and accurate recommendations in the clinic for strength assessment.
Inclusion Criteria and Participants: Thirty participants, between the ages of 5 and 18, with a diagnosis of Duchenne Muscular Dystrophy (DMD) will be enrolled into this study. Participants must be able to transfer to and from a wheel-chair with assistance and not had any surgeries or muscle injuries in the previous 8 weeks.
Status: In analysis.
Participating CINRG Sites:
- Children's National Medical Center located in Washington, DC (Principal Investigator: Tina Duong, MPT)
- Carolina's Medical Center located in Charlotte, NC (Principal Investigator: Mohammed Sanjak, PhD, PT)
- Royal Children's Hospital located in Melbourne, Australia (Principal Investigator: Kate Carroll, PhD, PT)
- Centro Clinico Nemo located in Milano, Italy (Principal Investigator: Ksenija Gorni, MD)
- Washington University located in St. Louis, MO (Principal Investigator: Julaine Florence, DPT)
Sponsorship: This study is sponsored by the Muscular Dystrophy Association (MDA) Crystal Ball Fund.
This study is listed at clinicaltrials.gov: http://clinicaltrials.gov/ct2/show/NCT01125709?term=duchenne&rank=32
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: There are two purposes to this study. The first purpose of this research study is to establish the largest long-term assessment of people with Duchenne muscular dystrophy. 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 over a five (5) year period. We will also look at how families of people with DMD interact with their communities and at their quality of life. For the family part of our study, we will also ask parents questions about their quality of life, and about their attitudes towards different aspects of their children's diagnosis, medical care and other support. One of the first uses of this study will be to see how long-term steroid therapy affects these aspects of lives of study volunteers who use the drug.
The 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 certain medications, specifically steroids. These single changes in your genes are called Single Nucleotide Polymorphisms or "SNPs". DNA (or our body's instructions) can be found within cells of our body including blood, as well as cells within our saliva. We would like to perform a genetic test for SNP's that relate to muscle strength and size, as well as steroid response. This can be done by collecting a small blood sample or a small saliva sample at the first study visit.
Inclusion Criteria and Participants: This study is currently closed to enrollment. 348 participants with DMD between ages 2 and 28 years, along with their parent/caregiver were enrolled into this project.
Status: Enrollment closed. Active protocol visits.
Participating CINRG Sites:
- Children's National Medical Center located in Washington, DC (Principal Investigator: Carolina Tesi-Rocha)
- Children's Hospital of Virginia located in Richmond, VA (Principal Investigator: Jean Teasley, MD)
- University of Pittsburgh / Children's Hospital of Pittsburgh of UPMC located in Pittsburgh, PA (Principal Investigator: Paula R. Clemens, MD)
- University of Tennessee-Memphis located in Memphis, TN (Principal Investigator: Tulio Bertorini, MD)
- University of Puerto Rico located in San Juan, PR (Principal Investigator: Jose Carlo, MD)
- Washington University located in St. Louis, MO (Principal Investigator: Anne Connolly, MD)
- Bloorview MacMillan Medical Center located in Toronto, ON, Canada (Principal Investigator: Doug Biggar, MD)
- Apollo Hospitals located in Chennai, India (Principal Investigator: Dr. V.Viswanathan.,MRCP,P.hd)
- Royal Children's Hospital located in Melbourne, Australia (Principal Investigator: Andrew Kornberg, MD)
- Muscular Dystrophy Association clinic located in Buenos Aires, Argentina (Principal Investigator: Alberto Dubrovsky, MD)
- Mayo Clinic located in Rochester, MN (Principal Investigator: Sherilyn Driscoll, MD)
- University of California, Davis located in Sacramento, CA (Principal Investigator: Craig McDonald, MD)
- Queen Silvia Children's Hospital-Linkoping located in Goteborg, Sweden (Principal Investigator: Mar Tulinius, MD)
- Children's Hospital at Westmead-Sydney located in Sydney, Australia (Principal Investigator: Kathryn North, MD)
- University of Minnesota located in Minneapolis, MN (Principal Investigator John Day, MD)
- Alberta Children's Hospital located in Calgary, AB, Canada (Principal Investigator: Jean Mah, MD)
- Texas Children's Hospital located in Houston, TX (Principal Investigator: Timothy Lotze, MD)
- University of Alberto located in Edmonton, AB, Canada (Principal Investigator: Hannah Kolski, MD)
- Centro Clinico Nemo located in Milano, Italy (Principal Investigator: Ksenija Gorni, MD)
Sponsorship: This study is sponsored by the National Institute of Disability and Rehabilitation Research (NIDRR), National Institutes of Health (NIH), and the Department of Defense (DoD).
Title: National Initiative for Families with Duchenne (NIFD)
Study Details: The purpose of this research study is collected a large-scale needs assessment of the DMD community that is offered to families and physicians. The survey provides information about medical care that families with DMD received and difficulties the families face in getting the services that they need.
Inclusion Criteria and Participants: A total of 237 families have participated, either through the CINRG natural history study or through the NIFD study directly.
Status: Enrollment closed. Active data analyses are underway.
Participating CINRG Sites: n/a as survey information was gathered from participants across the country.
Questions: For questions about this research study please contact Adrienne Arrieta at 202-476-6497 / aarrieta@cnmcresearch.org
Sponsorship: The National Initiative for Families with DMD (NIFD) study is a questionnaire instrument developed by researchers from CINRG and Columbia University in New York through funding from the Centers for Disease Control and Prevention (CDC).
