Research

Our unique environment provides us with the latest technologies, collaborative expertise in diagnosis, and access to cutting-edge therapies. We are passionate about what we do and are engaged in several research and clinical programs. We can always improve the status quo.

    • To collaborate across the institution and within established and not-yet established consortia to discover mechanisms of disease, describe previously unrecognized phenotypes/ genotypes, and to provide clinical trials opportunities for patients with rare metabolic bone diseases.

    • To become the world’s experts on rare metabolic bone diseases by capitalizing on leadership opportunities within consortia and on clinical trials as well as performing quality local research.

    • To actively pursue gobal and national collaborations

    • Leverage BioVue and Precision Medicine resources to promote discovery in these rare diseases.

    • Create a successful research infrastructure to support multiple registries, observation studies and clinical trials.

    • To create a collaborative med-peds and multispecialty clinic that receives international and national referrals due to clinical expertise and excellence.

    • Establish best practices and clinical practice guidelines for rare bone diseases

    • To provide individualized clinical care coordination with a nurse case management approach

    • To streamline visits to maximize multiple evaluations for patients traveling long distances and/or for multiple family members

    • To work collaboratively with Vanderbilt Eye Institute, Vanderbilt Imaging, Vanderbilt Dental and Oral Surgery Clinic, Vanderbilt Orthopedic Institute, Vanderbilt Pi Beta Phi, Vanderbilt Pediatric PT/OT/ST, Vanderbilt Dayani Center

    • To promote education, networking and support opportunities for patients/families with rare diseases.

    • To incorporate Telemedicine

    • To Incorporate quality improvement strategies to ensure clinical outcomes optimized and appropriate implementation practices made

    • To integrate research and academics with clinical care.

    • To provide training for MDs both within the institution and across institutions as well as training for APRNs, RNs, PTs, and dental providers regarding rare genetic/ metabolic bone disease.

  • Enrolling Now

    • Ultragenyx Pharmaceuticals A Randomized, Double Blind, Placebo-controlled, Phase 2/3 Study to Assess the Efficacy and Safety of Setrusumab in Subjects with Osteogenesis Imperfecta.

    • Ultragenyx Pharmaceuticals : An Open-Label, Randomized, Acitve-controlled, Phase 3 Study of Setrusumab Compared with Bisphosphonates in Pediatric Subjects 2 to <5 Years of Age with Osteogenesis Imperfecta Types 1, III, or IV.
       

    Closed to Enrollment

    • X-linked Hypophosphatemia Disease Monitoring Program for Pediatric Patients with XLH

  • Enrolling Now

    • A randomized, placebo-controlled study to assess the safety, tolerability, pharmacokinetics, and effects on heterotopic bone formation of regn2477 in patients with fibrodysplasia ossificans progressiva
       
    • A Phase 2/3, Multicentre, Multinational, Double-blind, Dose-finding Study, incorporating an open label substudy, in Adult Patients ages 12 to 26 with Type I, III or IV Osteogenesis Imperfecta Treated with setrusumab (BPS804)
       
    • ALX-HPP-501 An Observational, Longitudinal, Prospective, long term registry of Patients with Hypophosphatasia
       
    • A Prospective Observational Sub-Study of the Global Hypophosphatasia Registry to Describe the Potential Risk of Immune-Mediated Loss of Pharmacological Effect of Asfotase Alfa in Participants with Hypophosphatasia
       
    • A Phase 1b, single ascending dose, randomized, double-blind study to evaluate the safety, tolerability, and activity of SAR439459 in adults with osteogenesis imperfecta
       

    Closed to Enrollment

    • X-linked Hypophosphatemia Disease Monitoring Program for Adults with XLH
       
    • Tumor-induced Osteomalacia Disease Monitoring Program (TIO DMP)