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Indiana University School of Medicine
Indiana University School of Medicine
Expertise in Musculoskeletal Health

Research Breakthroughs

IU School of Medicine faculty members Michael Econs, MD, and Kenneth White, PhD, have made seminal discoveries elucidatating the underlying causes of hereditary hypophosphatemic rickets, phosphate-wasting bone disorders that result in skeletal deformities, pain and other complications.

Their research has formed the basis of new treatments for both X-linked hypophosphatemia (XLH), the most common type of hereditary hypophosphatemic rickets, and autosomal dominant hypophosphatemic rickets (ADHR), an ultra-rare form of the disorder.

The research spans 30 years and involves multiple breakthroughs:

Mike Econs, MD, is a part of a team that discovers that XLH is linked to a mutation on the PHEX gene, though it is unclear exactly how the genetic mutation causes the disease. Their findings are published in Nature Genetics.

Research related to hypophosphatemic rickets, FGF23 and metabolic bone disorders continues at IU School of Medicine.

Econs and White revealed in recent studies that iron plays an important role in regulating FGF23 levels in patients with ADHR, the ultra-rare variant of the disease. Econs launched a National Institutes of Health (NIH) funded clinical trial in 2014 to study the use of oral iron to restore the ability of patients with ADHR to conserve phosphate. Though ongoing, the iron therapy study is extraordinarily promising and in some cases has allowed for a complete remission.

Of note, the vast majority of the work cited above was funded by the NIH, particularly the National Institute of Arthritis Musculoskeletal and Skin Diseases and the National Institute of Diabetes, Digestive, and Kidney Disease. These institutes funded the precompetitive work that was necessary before a company could get involved developing a drug. In addition, Econs has received continuous philanthropic support from the Scottish Rite of Indianapolis Foundation since joining the IU School of Medicine faculty in 1997.