Skeletal Dysplasia Research at Children's Hospital 麻豆传媒高清
Principal Investigators
Klane K. White, MD, MSc
Professor
Janet Bell, PhD, CGC
Elizabeth Rausch, PA-C
Shelley Brandstetter, DNP, ARNP
Research Professional
Kim Sungmin, BS,
Research Professional
Skeletal Dysplasia Research
The Skeletal Dysplasia Program at Children's Hospital 麻豆传媒高清 conducts groundbreaking research across multiple rare bone disorders, including promising clinical trials for achondroplasia growth therapy and studies on early onset scoliosis and osteogenesis imperfecta. Our multifaceted approach encompasses innovative treatment evaluation, biobank development for genetic insights, and comprehensive assessment of complications in skeletal dysplasia patients, all aimed at improving clinical outcomes and quality of life for children with these rare disorders.
Recent Publications
- Savarirayan R, Hoernschemeyer DG, Ljungberg M, Zarate YA, Bacino CA, Bober MB, Legare JM, H?gler W, Quattrin T, Abuzzahab MJ, Hofman PL, White KK, Ma NS, Schnabel D, Sousa SB, Mao M, Smith A, Chakraborty M, Giwa A, Winding B, Volck B, Shu AD, McDonnell C. Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial. EClinicalMedicine. 2023 Nov; 65:102258. PMID: 37823031
This is a phase 2 clinical trial evaluating the benefit of a once-weekly C-type natriuretic peptide (CNP) analog aimed at increasing growth velocity in children with achondroplasia. In this trial, a new therapy was shown to be safe, well tolerated and effective in increasing annualized growth velocity. This work represents one of several clinical trials that our skeletal dysplasia program is participating in at Children’s Hospital 麻豆传媒高清.
Achondroplasia Biobank”, a prospective study. Achondroplasia is a bone growth disorder resulting in short stature and other skeletal differences of the spine and legs. This study aims to allow scientists to study variations in the health of people with achondroplasia by developing a biobank containing biological samples from patients with achondroplasia as well as their family members. This will assist scientists in learning more about what causes variation in health outcomes in achondroplasia, how to prevent them, and how to treat them. Learn more
A Prospective Comparison vs. Laboratory Spirometry for Children with Early Onset Scoliosis”, a multi-center prospective study led by Children’s Hospital 麻豆传媒高清. The primary purpose for this study is to determine the feasibility and reliability of POC spirometry testing in a pediatric spinal deformity clinic relative to standard formal pulmonary function laboratory spirometry for the patients with early onset scoliosis (EOS). .
Incidence of Nephrocalcinosis in the Pediatric Osteogenesis Imperfecta Population”, retrospective study. The aim of this study is to evaluate the incidence of nephrocalcinosis or nephrolithiasis in patients with osteogenesis imperfecta through renal ultrasound evaluation. In addition, to determine the difference in rates of nephrocalcinosis/nephrolithiasis between severity of Osteogenesis Imperfecta (OI).