IOF $1K Awards Focus on XLH, Other Rare Skeletal Diseases

The International Osteoporosis Foundation (IOF) has given its first five Skeletal Rare Diseases Academy Awards to researchers working on rare bone disorders, including X‐linked hypophosphatemia (XLH).

Selected by a panel of academy members, the awardees received a certificate along with a grant totaling $1,000 in recognition of the quality of their work.

The award winners were announced in a virtual ceremony during the 2020 World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases, recently held online.

“We sincerely congratulate the investigators of the winning abstracts for their excellent research which provides valuable new insights into the pathogenesis [disease mechanisms], diagnosis, and management of rare skeletal disorders,” Nicholas Harvey, MD, PhD, chair of the IOF’s committee of scientific advisors and co-chair of the IOF’s Skeletal Rare Diseases Academy, who announced the winners, said in a press release.

Giorgio Orlando, PhD, a researcher at the Research Centre for Musculoskeletal Science & Sports Medicine at Manchester Metropolitan University in the U.K. was one of the five awardees, cited for his work on XLH.

In a poster titled “Physical function and mobility in adults with x-linked hypophosphatemia,” submitted to the World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases, Orlando and his colleagues described a study that investigated the impact XLH had on patients’ physical function.

The team analyzed data from a battery of tests designed to assess patients’ muscle strength, fitness, and mobility.

A total of 21 adults with XLH — 10 men and 11 women, mean age 44.2 years — were included in the analyses. All patients had been recruited as part of the ongoing Rare and Undiagnosed Diseases (RUDY) study, a large U.K.-based study that aims to gather information from people with different types of rare diseases, including XLH.

The scientists found that handgrip strength was 22% lower in those with XLH compared with people from the general population. Likewise, jump power, a measure of lower body function, was 59% lower in XLH patients.

In addition, aerobic fitness, assessed with the six-minute walk test, was found to be lower by 40% in the XLH group.

Five patients showed impaired mobility, as assessed via the short physical performance battery.

Statistical analyses revealed that aerobic fitness, as well as upper and lower body function, were all associated with mobility. According to the investigators, this “suggests that the origin of mobility deficits [in XLH] may be multifactorial.”

“Further studies are required to understand underlying mechanisms, and to develop novel treatment approaches to improve physical function and mobility,” they wrote.

Two of the other awardees submitted studies on osteogenesis imperfecta, a genetic disorder that affects bone formation. Meanwhile, the other two researchers winning awards focused on hypoparathyroidism, a rare disorder in which a lack of the parathyroid hormone causes calcium and phosphorus levels to drop.

“The new research highlighted here today reflects the continued progress which has been made in our understanding of rare skeletal diseases,” said Maria Luisa Brandi, MD, PhD, convener and co-chair of the IOF Skeletal Rare Diseases Academy and IOF board member.

“Indeed, for diseases such as hypophosphatasia and x-linked hypophosphatemia, tremendous leaps have been made which now offer patients new and life-changing options for management of their disease,” she said. “Although there is still a long way to go, our hope is that with increasing knowledge we will be able to significantly advance patient management from diagnosis to treatment.”