Scholars@Duke
Thomas Joseph Weber

Thomas Joseph Weber

Professor of Medicine
Medicine, Endocrinology, Metabolism, and Nutrition
thomas.weber2@duke.edu
Duke Box 3470, Durham, NC 27710
303 Baker House, Durham, NC 27710

Selected Publications

Switching from active vitamin D and phosphate supplementation to burosumab significantly corrects lower limb malalignment in pediatric X-linked hypophosphatemia.

Journal Article J Bone Miner Res · November 29, 2025 X-linked hypophosphatemia (XLH) is a rare disorder of renal phosphate wasting and dysregulated active vitamin D metabolism, ultimately presenting as rickets and osteomalacia, among other manifestations. Lower extremity deformity (genu valgum and/or varum) ... Full text Link to item Cite

Clinical Pearls From JCEM Case Reports: ENDO 2025.

Journal Article JCEM Case Rep · November 2025 Full text Link to item Cite

Pharmacodynamic Exposure-Response Analysis of Fracture Count Data Following Treatment with Burosumab in Patients with XLH.

Journal Article J Clin Pharmacol · February 2025 X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by excessive fibroblast growth factor 23 (FGF23), leading to low serum phosphate levels resulting in increased risk of fractures and pseudofractures. Burosumab is indicated for the treatment ... Full text Link to item Cite

Approach to the Patient with Metabolic Bone Disease

Chapter · January 1, 2023 Metabolic bone disease encompasses both common (e.g., osteoporosis) and more rare (e.g., X-linked hypophosphatemic rickets) conditions that may be clinically silent or present with fractures and bone pain. Diagnostic assessment of metabolic bone disease in ... Full text Cite

Osteoporosis

Chapter · January 1, 2023 Osteoporosis, which is a skeletal disorder characterized by compromised bone strength, predisposes an individual to an increased risk for fracture and accounts for almost 2 million fractures occurring annually in the United States at an estimated cost of $ ... Full text Cite

Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia.

Journal Article J Clin Endocrinol Metab · December 17, 2022 CONTEXT: Burosumab was developed as a treatment option for patients with the rare, lifelong, chronically debilitating, genetic bone disease X-linked hypophosphatemia (XLH). OBJECTIVE: Collect additional information on the safety, immunogenicity, and clinic ... Full text Link to item Cite

Perception of clinical research among patients and healthy volunteers of clinical trials.

Journal Article Eur J Clin Pharmacol · October 2022 PURPOSE: Clinical research relies on data from patients and volunteers, yet the target sample size is often not achieved. Here, we assessed the perception of clinical research among clinical trial participants to improve the recruitment process for future ... Full text Link to item Cite

Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study.

Journal Article Calcified tissue international · October 2022 The anti-fibroblast growth factor 23 monoclonal antibody burosumab corrects hypophosphatemia in adults with X-linked hypophosphatemia (XLH) and improves pain, stiffness, physical function, and fatigue. This post hoc subgroup analysis used data from the 24- ... Full text Cite

Diagnosis and Management of Tumor-induced Osteomalacia: Perspectives From Clinical Experience.

Journal Article J Endocr Soc · September 1, 2021 PURPOSE: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal phosphate and vitamin D metabolism caused by typically small endocrine tumors that secrete fibroblast growth factor 23 (FGF23). TIO is characterized clinically by progr ... Full text Link to item Cite

Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension.

Journal Article RMD Open · September 2021 OBJECTIVES: To report the impact of burosumab on patient-reported outcomes (PROs) and ambulatory function in adults with X-linked hypophosphataemia (XLH) through 96 weeks. METHODS: Adults diagnosed with XLH were randomised 1:1 in a double-blinded trial to ... Full text Link to item Cite

Burosumab for the Treatment of Tumor-Induced Osteomalacia.

Journal Article J Bone Miner Res · April 2021 Tumor-induced osteomalacia (TIO) is caused by phosphaturic mesenchymal tumors producing fibroblast growth factor 23 (FGF23) and is characterized by impaired phosphate metabolism, skeletal health, and quality of life. UX023T-CL201 is an ongoing, open-label, ... Full text Link to item Cite

Effects of Iron Isomaltoside vs Ferric Carboxymaltose on Hypophosphatemia in Iron-Deficiency Anemia: Two Randomized Clinical Trials.

Journal Article JAMA · February 4, 2020 IMPORTANCE: Intravenous iron enables rapid correction of iron-deficiency anemia, but certain formulations induce fibroblast growth factor 23-mediated hypophosphatemia. OBJECTIVE: To compare risks of hypophosphatemia and effects on biomarkers of mineral and ... Full text Link to item Cite

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period.

Journal Article Calcif Tissue Int · September 2019 Burosumab, a fully human monoclonal antibody to FGF23, is the only approved treatment for X-linked hypophosphatemia (XLH), a rare genetic disorder characterized by renal phosphate wasting and substantial cumulative musculoskeletal morbidity. During an init ... Full text Link to item Cite

Tenofovir Has Minimal Effect on Biomarkers of Bone Health in Youth with HIV Receiving Initial Antiretroviral Therapy.

Journal Article AIDS Res Hum Retroviruses · August 2019 Both HIV infection and tenofovir disoproxil fumarate (TDF) treatment adversely impact bone metabolism and may lead to osteopenia, which has critical implications for youth with HIV (YWH). This study evaluates changes in the biomarkers of bone metabolism an ... Full text Link to item Cite

A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis.

Journal Article J Bone Miner Res · August 2018 In X-linked hypophosphatemia (XLH), inherited loss-of-function mutations in the PHEX gene cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to lifelong renal phosphate wasting and hypophosphatemia. Adults with XLH present with ... Full text Link to item Cite

Impaired calcium sensing distinguishes primary hyperparathyroidism (PHPT) patients with low bone mineral density.

Journal Article Metabolism · September 2017 CONTEXT: A subset of PHPT patients exhibit a more severe disease phenotype characterized by bone loss, fractures, recurrent nephrolithiasis, and other dysfunctions, but the underlying reasons for this disparity in clinical presentation remain unknown. OBJE ... Full text Link to item Cite

Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia.

Journal Article Bone Rep · December 2016 UNLABELLED: X-linked hypophosphatemia (XLH) is characterized by lower extremity deformities that lead to bone and/or joint pain that result from decreased renal tubular reabsorption leading to hypophosphatemia caused by elevated levels of fibroblast growth ... Full text Link to item Cite

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth.

Journal Article Bone Rep · December 2016 INTRODUCTION: Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation. At the mild ... Full text Link to item Cite

Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys.

Journal Article Metabolism · October 2016 BACKGROUND: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline (TNSALP) phosphatase gene, which manifests as rickets and/or osteomalacia with systemic complications and affects ... Full text Link to item Cite

Battle of the sex steroids in the male skeleton: and the winner is...

Journal Article J Clin Invest · March 1, 2016 Male osteoporosis is a multifactorial disease, although it is often in part related to hypogonadism. While testosterone replacement therapy has been shown to improve bone mineral density, studies have also linked bone loss and higher fracture risk in men t ... Full text Link to item Cite

Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) in the first multiple ascending-dose trial treating adults with X-linked hypophosphatemia.

Journal Article J Clin Pharmacol · February 2016 In X-linked hypophosphatemia (XLH), serum fibroblast growth factor 23 (FGF23) is increased and results in reduced renal maximum threshold for phosphate reabsorption (TmP), reduced serum inorganic phosphorus (Pi), and inappropriately low normal serum 1,25 d ... Full text Link to item Cite

Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23.

Journal Article J Clin Endocrinol Metab · July 2015 CONTEXT: In X-linked hypophosphatemia (XLH), elevated fibroblast growth factor 23 (FGF23) decreases the renal tubular maximum reabsorption rate of phosphate/glomerular filtration rate (TmP/GFR) and serum inorganic phosphorus (Pi), resulting in rickets and/ ... Full text Link to item Cite

Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia.

Journal Article J Clin Invest · April 2014 BACKGROUND: X-linked hypophosphatemia (XLH) is the most common heritable form of rickets and osteomalacia. XLH-associated mutations in phosphate-regulating endopeptidase (PHEX) result in elevated serum FGF23, decreased renal phosphate reabsorption, and low ... Full text Link to item Cite

Comparison of cost-effectiveness of vitamin D screening with that of universal supplementation in preventing falls in community-dwelling older adults.

Journal Article J Am Geriatr Soc · May 2013 OBJECTIVES: To compare the cost-effectiveness of population screening for vitamin D insufficiency with that of universal vitamin D supplementation in community-dwelling older adults. DESIGN: A Markov decision model simulating follow-up over a 36-month peri ... Full text Link to item Cite

Cost-effectiveness of oral bisphosphonates for osteoporosis at different ages and levels of life expectancy.

Journal Article J Am Geriatr Soc · September 2011 OBJECTIVES: To evaluate the cost-effectiveness of oral bisphosphonate therapy for osteoporosis in women at different ages and life expectancies. DESIGN: A Markov model was used to analyze oral bisphosphonate treatment for 5 years compared to no interventio ... Full text Link to item Cite

Older men's explanatory model for osteoporosis.

Journal Article Gerontologist · August 2011 PURPOSE: To explore the nature of men's experiences of osteoporosis by developing an understanding of men's explanatory models. DESIGN AND METHODS: This descriptive study invited community-residing male osteoporosis patients aged 50+ to participate in inte ... Full text Link to item Cite

Osteoporosis in lung transplant candidates compared to matched healthy controls.

Journal Article Clin Transplant · 2011 PURPOSE: Advanced lung disease increases the risk for diminished bone mineral density (BMD). The prevalence and severity of osteoporosis in lung transplant candidates is unclear. METHODS: We retrospectively evaluated BMD of subjects screened for lung trans ... Full text Link to item Cite

Disorders of phosphorus homeostasis.

Journal Article Curr Opin Endocrinol Diabetes Obes · December 2010 PURPOSE OF REVIEW: The study of phosphorus physiology and investigations into clinical disorders of phosphorus metabolism has blossomed over the past decade. Recent work has confirmed and further extended our knowledge of basic mechanisms of phosphorus met ... Full text Link to item Cite

Hypovitaminosis D in glycogen storage disease type I.

Journal Article Mol Genet Metab · April 2010 Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had sub ... Full text Link to item Cite

Following the forgotten phosphorus.

Journal Article Am J Med · December 2009 Full text Link to item Cite

Osteoporosis in older women

Journal Article Clinical Geriatrics · October 1, 2009 Cite

Stimulation of spermatogenesis with recombinant human follicle-stimulating hormone (follitropin alfa; GONAL-f): long-term treatment in azoospermic men with hypogonadotropic hypogonadism.

Journal Article Fertil Steril · September 2009 OBJECTIVE: To demonstrate the efficacy and safety of follitropin alfa administered with hCG on spermatogenesis in adult male hypogonadotropic hypogonadism (HH) patients. DESIGN: Phase III, multicenter, open-label, noncomparative. SETTING: Seven US medical ... Full text Link to item Cite

Fibrogenesis imperfecta ossium: MR imaging of the axial and appendicular skeleton and correlation with a unique radiographic appearance.

Journal Article Skeletal Radiol · November 2007 We describe a distinctly unusual MR appearance of the cancellous bone never before described in a patient with biopsy-proven fibrogenesis imperfecta ossium. ... Full text Link to item Cite

Fractures in children with Pompe disease: a potential long-term complication.

Journal Article Pediatr Radiol · May 2007 Featured Publication BACKGROUND: Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiome ... Full text Link to item Cite

Update on male osteoporosis

Journal Article Advanced Studies in Medicine · April 1, 2006 PURPOSE: Fragility fractures are increasingly recognized as an important cause of morbidity and mortality in men. This review focuses on the potential causes, means of diagnosis, and available treatment for male osteoporosis. EPIDEMIOLOGY: More than 2 mill ... Cite

New testosterone buccal system (Striant) delivers physiological testosterone levels: pharmacokinetics study in hypogonadal men.

Journal Article J Clin Endocrinol Metab · August 2004 A new mucoadhesive testosterone buccal system (Striant), 30 mg testosterone (T), was applied twice daily in 82 hypogonadal men for 3 months. Serum T, free T, and 5alpha-dihydrotestosterone were measured during this period. T pharmacokinetics were determine ... Full text Link to item Cite

Long-term testosterone gel (AndroGel) treatment maintains beneficial effects on sexual function and mood, lean and fat mass, and bone mineral density in hypogonadal men.

Journal Article J Clin Endocrinol Metab · May 2004 Transdermal testosterone (T) delivery represents an effective alternative to injectable androgens. We studied 163 hypogonadal men who applied 5, 7.5, or 10 g AndroGel (T gel) 1% CIII per day for up to 42 months. Efficacy data were presented in 123 subjects ... Full text Link to item Cite

Serum FGF23 levels in normal and disordered phosphorus homeostasis.

Journal Article J Bone Miner Res · July 2003 Featured Publication UNLABELLED: We investigated if the circulating levels of the phosphaturic factor FGF23 are elevated in subjects with XLH. Although we failed to find a statistically significant increase, FGF23 levels were significantly correlated with the degree of hypopho ... Full text Link to item Cite

Effect of alendronate on bone mineral density in male idiopathic osteoporosis.

Journal Article Metabolism · August 2001 Featured Publication Idiopathic osteoporosis in men is an increasingly recognized disorder accounting for up to 200,000 hip fractures worldwide each year. Although there is no widely accepted or proven efficacious treatment for men with idiopathic osteoporosis, we attempted to ... Full text Link to item Cite

Effects of transdermal testosterone gel on bone turnover markers and bone mineral density in hypogonadal men.

Journal Article Clin Endocrinol (Oxf) · June 2001 OBJECTIVE: Androgen replacement has been reported to increase bone mineral density (BMD) in hypogonadal men. We studied the effects of 6 months of treatment with a new transdermal testosterone (T) gel preparation on bone turnover markers and BMD. DESIGN: T ... Full text Link to item Cite

Long-term pharmacokinetics of transdermal testosterone gel in hypogonadal men.

Journal Article J Clin Endocrinol Metab · December 2000 Transdermal delivery of testosterone (T) represents an effective alternative to injectable androgens. Transdermal T patches normalize serum T levels and reverse the symptoms of androgen deficiency in hypogonadal men. However, the acceptance of the closed s ... Full text Link to item Cite

Transdermal testosterone gel improves sexual function, mood, muscle strength, and body composition parameters in hypogonadal men.

Journal Article J Clin Endocrinol Metab · August 2000 Testosterone (T) therapy for hypogonadal men should correct the clinical abnormalities of T deficiency, including improvement of sexual function, increase in muscle mass and strength, and decrease in fat mass, with minimal adverse effects. We have shown th ... Full text Link to item Cite

Alendronate increases bone mineral density in male idiopathic osteoporosis.

Conference JOURNAL OF BONE AND MINERAL RESEARCH · September 1, 1999 Link to item Cite

Secondary osteoporosis. Diagnostic considerations.

Journal Article Endocrinol Metab Clin North Am · June 1998 This article discusses the important secondary causes of osteoporosis that contribute significantly to bone loss and that seem to increase fracture risk, including hypogonadism, endogenous and exogenous thyroxine excess, hyperparathyroidism, malignancies, ... Full text Link to item Cite

Steroidogenic factor 1 plays multiple roles in endocrine development and function.

Journal Article Recent Prog Horm Res · 1997 The nuclear hormone receptor family comprises a group of structurally related transcriptional regulators that mediate the actions of diverse ligands, including steroid hormones, thyroid hormone, vitamin D, and retinoids. The nuclear receptor family also co ... Link to item Cite

Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development.

Journal Article Mol Endocrinol · October 1996 Mutations of the orphan nuclear receptors, steroidogenic factor 1 (SF-1) and DAX-1, cause complex endocrine phenotypes that include impaired adrenal development and hypogonadotrophic hypogonadism. These similar phenotypes suggest that SF-1 and DAX-1 act in ... Full text Link to item Cite