Improving health care requires scientific and clinical 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.

Research Goals

  • 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 (Brittle Bone Disorders Consortium, Duke University Genetics, University of Nebraska Genetics, University of East Anglia, UK, University of Wurtzburg, Germany)

  • 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.

Clinical Goals

  • 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:

    • Sponsored Mixer, January 2016

    • July 2016 SoftBones Conference and Picnic

    • (Potential) Magic Foundation Fall Mixer 2016

  • To incorporate Telemedicine

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

Academic Goals

  • 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.

Current Research Programs - Adult

  • (Closed) AA-HPP-208 A Phase 2A, Randomized, Multicenter, Open-Label, Pharmacokinetic, and Dose Response Study of Asfotase Alfa in Adult Patients with Pediatric-Onset Hypophosphatasia

  • (Active) ALX-HPP-501 An Observational, Longitudinal, Prospective, long term registry of Patients with Hypophosphatasia

  • (Pending Contract) BPS804 - Recombinant humanized monoclonal IgG2 lambda antibody against human sclerostin A multicentre, multinational, double blind, placebo controlled and open label active treatment study to assess the efficacy, safety and pharmacokinetics of intravenous BPS804 in patients with osteogenesis imperfecta.

  • (Pending Contract) Impact of treatment of asfotase alfa Adults Diagnosed with Pediatric-onset HPP – Experience from Two US Centers

  • (Pending Contract) An Open-Label, Randomized, Crossover Study to Assess the Pharmacokinetic and Pharmacodynamic Profiles of Once-Daily and Twice-Daily Dose Regimens of recombinant human Parathyroid Hormone (rhPTH[1-84]) Administered Subcutaneously to Subjects with Hypoparathyroidism

Current Research Programs - Pediatric

  • (Active) Protocol ENB-003-08: Extension of Protocol ENB-002-08: ENB-0400 (Human Recombinant Tissue Nonspecific Alkaline Phosphatase Fusion Protein) in Severely Affected Patients with Infantile Hypophosphatasia (HPP)

  • (Active) ALX-HPP-501 - An Observational, Longitudinal, Prospective, long term registry of Patients with Hypophosphatasia

  • (Active) Prospective, Multicenter, Single-arm Study to Evaluate Efficacy, Safety, and Pharmacokinetics of Denosumab in Children With Osteogenesis Imperfecta

  • (Active) Regulation of Bone Pain and Inflammation by Bisphosphonates in Osteogenesis Imperfecta

  • (Active) Stress, Depression, and Quality of Life Among Parents Caring for Children with Osteogenesis Imperfecta

  • (Feasibility Application Submitted) Pediatric Glucocorticoid-induced Osteoporosis (GIOP)

  • (Active) A Randomized, Open-Label, Phase 3 Study to Assess the Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients with X-linked Hypophosphatemia (XLH)