Baylor College of Medicine

Principal Investigator: V. Reid Sutton, M.D.

Houston, Texas Clinical Site (PI Dr. V. Reid Sutton, co-PI Dr. Brendan Lee). The Houston site consists of Baylor College of Medicine, the new McNair campus of the Baylor College of Medicine Medical Center, and Texas Children’s Hospital. Dr. Sutton will lead the implementation of the Longitudinal Study with co-PI Dr. Frank Rauch, and the training activities with Ms. Tracy Hart, the executive director of the OIF.

• Dianne Nguyen
• Molecular and Human Genetics
  6701 Fannin CC1560
  Houston, Texas 77030
• Phone : 832-822-1572
• Fax : 832-825-1515
• diannen@bcm.edu
• Sub-investigators : Sandesh C.S. Nagamani, M.D

Shriners Hospital for Children, Montreal

Principal Investigator: Frank Rauch, M.D.

Montreal, Canada Clinical Site (PI Dr. Frank Rauch, co-PI Dr. Francis Glorieux). The Montreal site consists of the Shriners Hospital. Dr. Frank Rauch is Director of Clinical Laboratories at the Shriners Hospital and Associate Professor of Pediatrics at McGill University. He and Dr. Glorieux have played leading role in the development of medical therapeutics for OI, including Shriners Hospital sponsored trials on pamidronate for treatment of OI and the Novartis sponsored trial of zoledronic acid for initial treatment of OI. For his outstanding leadership and scientific contribution to the pediatric bone health field, Dr. Glorieux was made an Officer of the Order of Canada. The Montreal Shriners Hospital has been the lead accrual site of the LCRC.

• Michaela Durigova
• 1529 Cedar Avenue
  Montreal, Quebec, Canada H3G
  1A6
• Phone : 514-282-7158
• mdurigova@shriners.mcgill.ca
• Sub-investigators : Francis Glorieux, M.D & Jean-Marc Retrouvey, M.D.

Oregon Health and Science University

Principal Investigator: Eric Orwoll, M.D.

Portland, Oregon Clinical Site (PI- Dr. Eric Orwoll, co-PI Dr. Lindsey Nicol). The Portland site consists of Oregon Health Sciences University (OHSU) and the Shriners Hospital. Dr. Eric Orwoll is Professor of Medicine, Director of the Oregon Clinical and Translational Research Institute, and Assistant Vice President for Research at OHSU. He has cared for patients with bone and mineral disorders for many years. He led the largest adult OI trial performed to date on the use of parathyroid hormone (Forteo) therapy (in part sponsored by the OI Foundation). Dr. Orwoll leads one of the largest clinics for adults with OI in North America. His major research interests include the epidemiology, etiology and therapy of osteoporosis; the effects of sex steroids on skeletal biology; and skeletal genetics. He has been active in a variety of national research and clinical organizations. Dr. Orwoll is a member of the Board of Trustees, National Osteoporosis Foundation.

• Melanie Abrahamson
• 3181 SW Sam Jackson Park
  Road, CR113
  Portland, OR 97239
• Phone : 503-494-0225
• Fax : 503-494-6595
• Orwoll@ohsu.edu

University of California Los Angeles

Principal Investigator: Deborah Krakow, M.D.

Los Angeles, California Clinical Site (PI Deborah Krakow). The L.A. clinical site consists of UCLA, Orthopedic Institute for Children, and the Shriners Hospital. Dr. Deborah Krakow is Professor of Obstetrics and Gynecology, Human Genetics, and Orthopedic Surgery and is leading the transfer of the Skeletal Dysplasia Registry from Cedars Sinai Medical Center. Since Dr. David Rimoin’s passing, she has taken over the lead on the International Skeletal Dysplasia Registry. The Registry is the largest collection of available radiographs, cell lines, frozen bone and cartilage and histomorphology on individuals with skeletal dysplasias and dysostoses and there are more than 20,000 cases for review. Approximately, five percent of the Registry represents cases with various forms of OI. In collaboration with Dr. Lee, she and the Registry have driven many of the new gene discoveries in OI. In addition, she has reviewed more than 1,000 ultrasound cases and she and collaborators have authored the guideline statement on the prenatal detection of the skeletal dysplasias for the American College of Medical Genetics. Dr. Krakow will lead the pregnancy component of the longitudinal study.

• Samantha Alon
• 615 Charles E. Young Drive South,
  Room 410
  Los Angeles, CA 90095-7358
• Phone : 310-794-6420
• Fax : 310-206-5266
• salon@mednet.ucla.edu

Kennedy Krieger Institute / Hugo W. Moser Research Institute

Principal Investigator: Mahim Jain, M.D.

The Baltimore site consists of Kennedy Krieger Institute (KKI)/John Hopkins University School of Medicine. Dr. Mahim Jain is an Assistant Professor in the Department of Pediatrics at the John Hopkins University School of Medicine. He joined KKI in 2016 and is the Director of the Bone and Osteogenesis Imperfecta Department and the director of the OI Clinic. Dr. Jain is a clinical geneticist that sees both children and adults with OI and has a strong clinical and research interest in treating and understanding disorders of low bone density. During training he was involved in clinical research efforts focused on studying clinically-relevant outcomes in a large multi-center cohort of patients with osteogenesis imperfecta. Dr. Jain is a clinical geneticist who also has identified and contributed to efforts that have identified genetic variants, whether common or rare, that contribute to human disorders, including OI, other skeletal disorders and attention-deficit/hyperactivity disorder. 

• Jennifer Nagy, R.N.
• 801 North Broadway
  Baltimore, MD 21205
• Phone : 443-923-2704
• Fax : 443-923-2705
• Nagy@kennedykrieger.org 

Children’s National Medical Center

Principal Investigator: Laura Tosi, M.D.

Washington D.C. Clinical Site (PI Dr. Laura Tosi). The Washington D.C. site is based at the Children’s National Health System and will be led by Dr. Laura L. Tosi. She is the Director and Founder of the Bone Health Program at Children’s National. Her clinical practice focuses on the orthopedic care of children with physical disabilities and/or issues related to bone health. She currently serves on the Medical Advisory Committee of the OIF and chair of the Rare Bone Disease working group of the National Bone Health Alliance. She also serves on the Boards of the U.S. Bone and Joint Initiative and the Society for Women’s Health Research as well as the “Own the Bone” Steering Committee of the American Orthopedic Association. Taking advantage of PROMIS and in collaboration with the OIF and members of the OI patient and physician community, she developed the OI Adult Natural History Initiative and performed a preliminary survey of over 900 adults with OI in order to capture a snapshot of their health status, needs, and priorities.

• Christina Dollar
• 111 Michigan Avenue, NW
  Washington, DC 21205
• Phone : 301- 980- 5461
• cdollar@childrensnational.org 

Hospital for Special Surgery

Principal Investigator: Cathleen Raggio M.D.

New York City Clinical Site (PI Dr. Cathleen Raggio). The NYC site will be at the Hospital for Special Surgery and be led by Dr. Cathleen Raggio. Dr. Raggio directs the Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasia Research Registry for implementing clinical research in conditions such as OI. She participated in the assessment of oral bisphosphonates in the treatment of OI in the recently published paper in Lancet on use of oral risedronate.

• Elizabeth Yonko
• 535 East 70th Street
  New York, NY 10021
• Phone : 212-774-7332 or 212-774-2355
• YonkoE@HSS.edu

Shriners Hospital for Children, Chicago / Marquette University

Principal Investigator: Peter Smith, M.D.
Co-PI: Gerald Harris, PhD, PE

Milwaukee/Chicago Clinical Site (PIs Drs. Gerald Harris and Peter Smith, respectively). This site consists of Marquette University and the Shriners Hospital Chicago. Dr. Gerald F. Harris is Professor in Biomedical Engineering at Marquette University and is the Director of the Orthopedic and Rehabilitation Engineering Center. Dr. Harris is a Fellow of the IEEE Engineering in Medicine and Biology Society (EMBS) and the Biomedical Engineering Society. His expertise and research interests include orthopedic biomechanics, rehabilitation engineering, fracture prediction, analysis of gait, measurement of human performance, mechanical design, and computerized data acquisition and analysis. Dr. Peter Smith is head of the Osteogenesis Imperfecta Clinic at Shriners Hospitals for Children Chicago Hospital since 1991. He directs one of the busiest OI clinics in the US for children, founded over 40 years ago, and has expertise in orthopedic surgery for the correction of deformity of the long bones and spine. He has collaborated on multicenter research projects in the past on the use of bisphosphonates and also the results of femoral rodding in OI.

• Angela Caudill, MPT
• P.O. Box 1881
  Milwaukee, WI 53201
• Phone : 773-385-5868
• acaudill@shrinenet.org
• Sub-investigators : Gerald Harris, PhD, PE

University of South Florida

Principal Investigator: Jeff Krischer Ph.D.

BIOSTATISTICS & EPIDEMIOLOGY CORE
This Core (PI Dr. Jeffery Krischer) is based at the University of South Florida. Dr. Jeffrey Krischer is a Professor and Head of the Division of Biostatistics & Informatics and Director of the Pediatrics Epidemiology Center. He has more than twenty years of experience in the design and conduct of multi-institutional epidemiological studies and clinical trials. He lists among his 200 publications several that are focused on the design of trials in rare diseases with limited accrual possibilities. Over the last 10 years, Dr. Krischer has served as the lead biostatistician and Principal Investigator of the Data Management Coordinating Center for the Rare Diseases Network. Under the scope of this RFA, the responsibilities for statistical and epidemiological support have been shifted to the Consortia and Dr. Krischer will continue to provide these essential functions as a co-investigator of the BBD Consortium under subcontract. He has already been collaborating with many of the BBD investigators as part of the OIF Linked Clinical Research Center as the Data Coordinating Center. As part of this network, Dr. Krischer served similar function as he would for us in the DMCC including protocol development, data collection and management, and statistical analyses.

• Amoy Fraser, CCRP, PMP, CRA-USF
• Statistician : David Cuthbertson, MS
• Health Informatics Institute
  3650 Spectrum Blvd, Suite 100
  Tampa, 33612
• Phone : 813-396-9479
• Fax : 813-910-5997
• Amoy.Fraser@epi.usf.edu

University of Washington

Principal Investigator: David Eyre Ph.D.

MASS SPECTROMETRY CORE
The mass spectrometry core proposes to serve as the main area of technology development for biomarkers. It is led by Dr. David Eyre at the University of Washington who is the director of the Burgess Chair Research Program in the Department of Orthopedics. Dr. Eyre is the leader in the analysis of collagen biochemistry and post-translational modification. He developed the current used clinical markers of bone resorption based one collagen processing. He has also pioneered the mass spectrometric analyses of collagen that has facilitated the study of human and mouse models of the disorders of collagen posttranslational modification. As part of these studies, he will measure new markers of type I collagen processing specifically as part of the pilot program to assess cross linking peptides in the different forms of OI.

• Kae Ellingsen
• 4333 Brooklyn Ave., NE (17th Floor)
  Seattle, WA 98195
• Phone : 206-543-4700
• Fax : 206-685-4700
• kaep@uw.edu

Osteogenesis Imperfecta Foundation:

PATIENT ADVOCACY GROUP
The Patient Advocacy Site will be led by Ms. Tracy Hart, the executive director of the Osteogenesis Imperfecta Foundation. The OIF has been the leader in the development of the Linked Clinical Research Centers on which this BBD RDCRC is developed. OIF participation has been integrated into the design of this network (participation in the planning of this grant), the future governance of the program (seats on the Operational and Executive Committees), and the implementation of the protocols at the level of recruitment, and education (OIF family meeting and OIF scientific meeting). The OIF has been critical in the development of the infrastructure of this network, the design of the clinical trials, the establishment of a patient contact registry, and the support of two of the 8 clinical sites. Since 1970 the Osteogenesis Imperfecta Foundation has been providing support to people living with OI and those trying to find cures and treatments for the disorder. The Foundation’s principal education event is the Biennial National Conference on OI, which in 2008 provided more than 750 people with medical, research and coping information. This year as part of the OI conference, a delegation of conference attendees visited Capitol Hill and visited 44 congressional offices in an effort to educate them about OI and priorities of the Foundation.

• Tracy Hart
• 804 West Diamond Avenue
  Gaithersburg, MD 20878
• Phone : 301-947-0083
• thart@oif.org

University of Nebraska Medical Center in affiliation with Children’s Hospital & Medical Center

Principal Investigator: Paul Esposito, M.D.

The Omaha, Nebraska Clinical Site (Co PI-Dr. Eric Rush, Co-PI-Dr. Paul Esposito) consists of Children's Hospital and Medical Center and University of Nebraska Medical Center. Dr. Eric Rush is the Medical Director of the Osteogenesis Imperfecta and Metabolic Bone clinics and Assistant Professor of Pediatrics, Internal Medicine, and Orthopedic Surgery. He and Dr. Esposito lead a multidisciplinary, patient-centered OI clinic that includes physical therapy, occupational therapy, nutrition, dental and social work and is now one of the largest in North America. Dr. Rush is the Principal Investigator on several investigator-initiated and industry-sponsored trials studying OI and other rare diseases. Both Drs. Rush and Esposito frequently educate colleagues and the public about the diagnosis and treatment of patients with OI.

• Elizabeth Strudthoff, RN
• Address: 985456 Nebraska Medical Center,
• Omaha, NE 68198-5456
• Phone: 402-559-0681
• Fax: 402-559-2920
• Email: Elizabeth.Strudthoff@UNMC.edu

Shriners Hospital for Children, Tampa

Principal Investigator: Danielle Gomez, MD

• Margaret Gross-King
• 12502 USF Pine Drive,
  Tampa, Florida 33612
• Phone : 813-972-2250 x7538
• MGKing@ShrineNet.org
• Sub-investigators : Sureka Bollepalli, MD; Chris Rossbach, MD; Richard Radeki, MD; Lisa Green, NP.

Alfred I. duPont Hospital for Children

Principal Investigator: Michael B. Bober, M.D., Ph.D.

Wilmington, Delaware Clinical Site (PI Dr. Michael Bober, co-PI Dr. Richard Kruse). The Delaware site consists of the A.I. duPont Hospital for Children and its outpatient clinics. Dr. Bober is the Director of the Skeletal Dysplasia Program and a Professor of Pediatrics at Thomas Jefferson University’s Stanley Kimmel Medical College. He is board certified in Pediatrics, Clinical Genetics and Molecular Genetics. His clinical practice focuses on the diagnosis and management of all children with skeletal dysplasia including OI. Dr. Kruse is Vice Chairman, Department of Orthopaedics at AIDHC and a Professor of Orthopaedics at Thomas Jefferson University’s Stanley Kimmel Medical College. Dr. Kruse is board certified in Orthopedics and a Member of the OI Foundation’s Medical Advisory Board. Together they run a comprehensive clinic program for children and young adults with OI.

• Cassondra Brown
• 1600 Rockland Road,
  Wilmington, DE 19803
• Phone : 302-298-7930
• Cassondra.Brown@nemours.org
• https://www.nemours.org/locations/nemours-dupont.html