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.
(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
: (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