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Michael T. Collins, M.D.

Michael T. Collins, M.D.Chief, Skeletal Disorders and Mineral Homeostasis Section

BUILDING 30, ROOM 228 MSC 4320
BETHESDA, MD 20892-4320

Phone: (301) 496-4913
Fax: (301) 402-0824

Biographical Sketch

Dr. Collins is the chief of the Skeletal Disorders and Mineral Homeostasis Section in the Craniofacial and Skeletal Diseases Branch, NIDCR.  He did his endocrine training at the NIH in the Interinstitute Endocrine Training Program and his internal medicine residency training, chief residency, and medical school training at the University of Maryland in Baltimore. Dr. Collins has been at the NIH since completing his fellowship training.  Areas of investigation include bone biology and mineral metabolism, which are studied through clinical and translational studies.  Specific areas of interest include the role of PTH, G-proteins, and cAMP in bone cell biology, and FGF23 in mineral metabolism.  The primary approach is the study and treatment of patients with rare disorders of bone and mineral metabolism as models through which to understand human bone and mineral biology and physiology.  Current models of focus include fibrous dysplasia of bone, hypoparathyroidism, and disorders of FGF23 excess and deficiency.

Dr. Collins is an actively involved in training the next generation of physician scientists as a member of the faculty of NIH Interinstitute Endocrine Training Program and a senior consultant and mentor and in the NIH Medical Research Scholars Program. He is an advisor to the Fibrous Dysplasia Foundation and the MAGIC Foundation and has served on a number of FDA Drug Advisory Committees.   

Research Interests/Scientific Focus

The mission of the Skeletal Disorders and Mineral Homeostasis Section is to advance the understanding of bone and mineral metabolism through clinical and translational studies of human diseases, and animal models and in vitro systems. The approach is primarily the study of rare diseases that serve as model systems. Clinical observations generate testable hypotheses that lead to basic and clinical studies that elucidate both pathophysiology and physiology and lead to the development of novel evidenced-based treatments. The principle disorders currently under investigation include: 1) fibrous dysplasia of bone/McCune-Albright syndrome (FD/MAS), a disease of the skeletal stem cell caused by activating mutations of the GNAS gene, that encodes the Gsα protein; 2) disorders of the phosphate- and vitamin D-regulating hormone, FGF23; and 3) hypoparathyroidism, a disease of parathyroid hormone (PTH) deficiency that allows for not only the study of the PTH/Gsα/cAMP pathway in bone and mineral metabolism, but also serves as a model in which to study FGF23 physiology.

One of the major thrusts my research program is to identify molecules with inhibitory and stimulatory activity at the mutations in Gsα that cause FD/MAS (so-called gsp mutations).  Identification of molecules with specific activity at gsp will not only allow for in-depth study of the underlying molecular and cellular pathophysiology, but also serve as compounds from which drugs to treat FD/MAS can be developed. 

The quest to ultimately discover drugs to treat FD/MAS is accompanied by an active ongoing clinical research program in FD/MAS that has been in place in the NIDCR since 1998 and present on the NIH campus since the 1980s.  This research program includes an ongoing natural history study and a number of completed clinical trials.  The output of this clinical work has largely defined the current care of patients with FD/MAS. 

An additional focus within FD/MAS is the role of RANKL in the pathophysiology of FD and the potential use of the RANKL antagonist drug, denosumab, in the treatment of FD.

Arising out of the work in FD/MAS is an active research program in the area of mineral metabolism, which focuses on PTH and FGF23.  The primary clinical approach to the study of PTH in bone and mineral metabolism is through studies in hypoparathyroidism.  Within the program is a clinical trial of PTH 1-34 treatment of patients with hypoparathyroidism.  The primary focus of this study is the effect of PTH one bone, looking at both the PTH deficiency state and PTH replacement. 

In addition, there are completed and ongoing studies of FGF23 physiology and biology.  These take place within the context of the study disease of FGF23 excess such as tumor-induced osteomalacia and X-linked hypophosphatemic rickets, and diseases of FGF23 deficiency, such as familial tumoral calcinosis.  These diseases and FGF23 biology in general are further explored through basic and translational studies in this area. 

Selected Publications

  1. Boyce A, Chong W, Yao J, Gafni R, Kelly M, Chamberlain C, Bassim C, Cherman N, Ellsworth M, Kasa-Vubu J, Farley F, Molinolo A, Bhattacharyya N, Collins M 2012 Denosumab treatment for fibrous dysplasia. J Bone Miner Res.
  2. Bhattacharyya N, Wiench M, Dumitrescu C, Connolly BM, Bugge TH, Patel HV, Gafni RI, Cherman N, Cho M, Hager GL, Collins MT 2012 Mechanism of FGF23 processing in fibrous dysplasia. J Bone Miner Res.
  3. Bergwitz C, Collins MT, Kamath RS, Rosenberg AE 2011 Case records of the Massachusetts General Hospital. Case 33-2011. A 56-year-old man with hypophosphatemia. N Engl J Med 365(17):1625-1635.
  4. Andreopoulou P, Dumitrescu CE, Kelly MH, Brillante BA, Cutler Peck CM, Wodajo FM, Chang R, Collins MT 2011 Selective venous catheterization for the localization of phosphaturic mesenchymal tumors. J Bone Miner Res 26(6):1295-1302.
  5. Brown RJ, Kelly MH, Collins MT 2010 Cushing syndrome in the McCune-Albright syndrome. J Clin Endocrinol Metab 95(4):1508-1515.
  6. Theman TA, Collins MT, Dempster DW, Zhou H, Reynolds JC, Brahim JS, Roschger P, Klaushofer K, Winer KK 2009 PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation. J Bone Miner Res 24(5):964-973.
  7. Celi FS, Coppotelli G, Chidakel A, Kelly M, Brillante BA, Shawker T, Cherman N, Feuillan PP, Collins MT 2008 The role of type 1 and type 2 5'-deiodinase in the pathophysiology of the 3,5,3'-triiodothyronine toxicosis of McCune-Albright syndrome. J Clin Endocrinol Metab 93(6):2383-2389.
  8. Geller JL, Khosravi A, Kelly MH, Riminucci M, Adams JS, Collins MT 2007 Cinacalcet in the management of tumor-induced osteomalacia. J Bone Miner Res 22(6):931-937.
  9. Feuillan P, Calis K, Hill S, Shawker T, Robey PG, Collins MT 2007 Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. J Clin Endocrinol Metab 92(6):2100-2106.
  10. Cutler CM, Lee JS, Butman JA, FitzGibbon EJ, Kelly MH, Brillante BA, Feuillan P, Robey PG, DuFresne CR, Collins MT 2006 Long-term outcome of optic nerve encasement and optic nerve decompression in patients with fibrous dysplasia: risk factors for blindness and safety of observation. Neurosurgery 59(5):1011-1017; discussion 1017-1018.
  11. Akintoye SO, Kelly MH, Brillante B, Cherman N, Turner S, Butman JA, Robey PG, Collins MT 2006 Pegvisomant for the treatment of gsp-mediated growth hormone excess in patients with McCune-Albright syndrome. J Clin Endocrinol Metab 91(8):2960-2966.
  12. Gupta A, Winer K, Econs MJ, Marx SJ, Collins MT 2004 FGF-23 is elevated by chronic hyperphosphatemia. J Clin Endocrinol Metab 89(9):4489-4492.
  13. Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, Waguespack S, Gupta A, Hannon T, Econs MJ, Bianco P, Gehron Robey P 2003 FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest 112(5):683-692.
  14. Lee JS, FitzGibbon E, Butman JA, Dufresne CR, Kushner H, Wientroub S, Robey PG, Collins MT 2002 Normal vision despite narrowing of the optic canal in fibrous dysplasia. N Engl J Med 347(21):1670-1676.
  15. Collins MT, Chebli C, Jones J, Kushner H, Consugar M, Rinaldo P, Wientroub S, Bianco P, Robey PG 2001 Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia. J Bone Miner Res 16(5):806-813.

Clinical Trials

  • 91-DK-0085  Associate Investigator
    “Studies of Hyperparathyroidism and Related Disorders”
  • 93-DK-0127  Associate Investigator
    “Family Studies in Metabolic Diseases and Mineral Metabolism”
  • 98-D-0145   Principal Investigator
    “Screening and natural history of patients with polyostotic fibrous dysplasia and the McCune-Albright Syndrome”
  • 00-I-0159       Associate Investigator
    "Natural history, management, and genetics of hyperimmunoglobulin E recurrent infection (Jobs) syndrome"
  • 01-D-0184     Principal Investigator
    "Evaluation and treatment of skeletal diseases"
  • 01-D-0184     Principal Investigator
    “Evaluation and Treatment of Bone and Mineral Disorders”
  • 03-DK-0098  Associate Investigator
    “Study of Thyrotropin Releasing hormone in Patients with Thyroid or Pituitary Abnormalities
  • 04-CC-0046  Associate Investigator
    “Citrate Effects and Bone Density in Long-Term Apheresis Donors”
  • 07-D-0016     Lead Associate Investigator
    “Effects of PTH Replacement on Bone in Hypoparathyroidism”

Complete CV and Publications (PDF File, 173KB)

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This page last updated: August 18, 2016