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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: A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy (FSHD)

Study Details: The purpose of this study is to establish a standardized functional testing protocol and measure longitudinal changes in muscle strength and function among patients with infantile onset FSHD, to describe the longitudinal changes in clinical phenotypes of infantile FSHD, to evaluate the long-term impact of physical impairment, secondary health conditions, activity limitations and disability caused by FSHD on health-related quality of life and disability, and to evaluate genetic modifiers and biomarkers of clinical phenotypes and disease progression in infantile FSHD.

The study includes four study visits; the first visit with be at baseline, with follow-up visits occurring at 12, 18, and 24-months following baseline. Participants are seen at a participating CINRG center. Assessments include: a physical exam, cognitive testing, eye exam, hearing test, strength testing and speech evaluations.

Inclusion Criteria and Participants: Fifty patients with infantile onset (symptom onset age < 11 years) and genetically confirmed FSHD will be enrolled. Age and gender matched controls will be recruited for genetic testing only.

Status: In follow-up

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: Mathula Thangarajh, MD)
  3. Washington University, St. Louis, MO (Principal Investigator: Anne Connolly, MD)
  4. Alberta Children's Hospital, Calgary, Canada (Principal Investigator: Jean Mah, MD)
  5. University of Newcastle, Newcastle Upon Tyne, United Kingdom (Principal Investigator: Michela Guglieri, MD)
  6. The Royal Children's Hospital Melbourne, Melbourne, Australia (Principal Investigator: Monique Ryan, MD)
  7. Additional CINRG sites may be added to this list

Questions: Please contact Marni Jacobs at (202) 476-2253 (MJacobs@childrensnational.org)

Sponsorship: This study is sponsored by FSH Society Inc., FSHD Global Research Foundation, and aTyr Pharma Inc.

This study is listed on clinicaltrials.gov at: https://clinicaltrials.gov/ct2/show/NCT01437345?term=FSHD&rank=10


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. 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 a documented out-of-frame deletion in the dystrophin gene.

Status: In follow-up.

Participating CINRG Sites:

  1. University of Pittsburgh / Children's Hospital of Pittsburgh of UPMC located in Pittsburgh, PA (Principal Investigator: Paula R. Clemens, MD)
  2. Children's National Medical Center, Washington, DC (Principal Investigator: Mathula Thangarajh, MD)
  3. University of Tennessee, Memphis, TN (Principal Investigator: Tulio Bertorini, MD)
  4. Washington University, St. Louis, MO (Principal Investigator: Anne Connolly, MD)
  5. University of Minnesota, Minneapolis, MN (Principal Investigator: Peter Karachunski)
  6. Carolinas Medical Center, Charlotte, NC (Principal Investigator: Susan Sparks, MD)
  7. Alberta Children's Hospital, Calgary, Canada (Principal Investigator: Jean Mah, MD)
  8. Texas Children's Hospital, Houston, TX (Principal Investigator: Timothy Lotze, MD)
  9. Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL (Principal Investigator: Nancy Kuntz, MD)
  10. University of California Davis, Sacramento, CA (Principal Investigator: Craig McDonald, MD)
  11. Duke University, Durham, NC (Principal Investigator: Edward Smith, MD)
  12. Additional CINRG sites may be added to this list

Questions: Please contact Lauren Morgenroth at 412-224-2030 (LMorgenroth@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

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: 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: In analysis.

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: Christopher Spurney)
  3. University of Tennessee, Memphis, TN (Principal Investigator: TulioBertorini, MD)
  4. Hadassah, Hebrew University Hospital, Jerusalem, Israel (Principal Investigator: YoramNevo, MD) Pending regulatory approval
  5. Carolinas Medical Center, Charlotte, NC (Principal Investigator: Susan Sparks, MD)
  6. Alberta Children's Hospital, Calgary, Canada (Principal Investigator: Jean Mah, MD)
  7. National Center of Neurology and Psychiatry , Tokyo, Japan (Principal Investigator: Shin'Ichi Takeda, MD)
  8. Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL (Principal Investigator: Nancy Kuntz, MD)
  9. University of California Davis, Sacramento, CA (Principal Investigator: Craig McDonald, MD)
  10. University of California Los Angeles, Los Angeles, CA (Principal Investigator: Perry Shieh, MD)
  11. Other CINRG sites may be added to this list

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

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

This study is listed at clinicaltrials.gov: https://www.clinicaltrials.gov/ct2/show/NCT01126697?term=PITT0908&rank=1


Last Updated: December 20, 2016

 

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