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 (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.
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
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.
(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
(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)