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

  • 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.

  • 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

  • (Active and open for enrollment) SoftBones Hypophosphatasia Research Grant $25,000. Comprehensive Assessment of Functional Performance in Adolescents and Adults with HPP including 3D Motional Analysis of Gait

  • (Active) Impact of Treatment of Asphotase Alpha in Adults Diagnosed with Pediatric-onset HPP – Experience from Two US Centers

  • (Active, active for enrollment) X-linked Hypophosphatemia Disease Monitoring Program for Adults with XLH

  • (Active, open for enrollment) Hearing Loss in Adults with Hypophosphatasia (HPP)

  • (Active, closed for enrollment) 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

  • (Active, closed for enrollment) A Phase 2b, Multicentre, Multinational, Double-blind, Dose-finding Study, incorporating an open label substudy, in Adult Patients with Type I, III or IV Osteogenesis Imperfecta Treated with setrusumab (BPS804).

  • (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

Current Research Programs - Pediatric

  • : (Active, active for enrollment) X-linked Hypophosphatemia Disease Monitoring Program for Pediatric Patients with XLH

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

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