Here's the official announcement, sent to us by Dr. Macica:
Study of Mobility, Gait, Range-of-Motion and Quality of Life in Patients with X-linked Hypophosphatemia
We are seeking 40-65 year old men and women with X-linked Hypophosphatemia (XLH) to participate in a research study at Quinnipiac University (Frank H. Netter School of Medicine, North Haven, CT). The purpose of this study is to learn more about the impact of XLH on the daily life and activities of adults with XLH. Using the information we learn from this study, we expect to gain a better understanding of the day-to-day challenges facing adults with XLH and, ultimately, hope to develop evidence-based strategies that lessen the burden or even help overcome these challenges.
STEP 1: To see if you are eligible for this study, you will be asked to answer several questions about your XLH and physical activity.
STEP 2: The study team will review your answers (consisting of Dr. Macica, a radiologist, physical therapists, an occupational therapist, and a social worker). If you are deemed eligible, they will invite you to participate in the study.
STEP 3: If you choose to participate, you will be asked to come to the Netter School of Medicine in North Haven, Connecticut and will undergo:
i) an x-ray to assess your bone and joint health; ii) measurements of your arm and leg muscle strength, and of your joint range of motion; iii) measurements of the way you walk, your posture, and your balance in the Motion Analysis Lab at Quinnipiac University; and iv) completion of survey materials and a one hour in-person interview and to assess your well-being as it relates to the impact of XLH on your day-to-day activities.
The study does not involve the use of needles or invasive procedures, and all aspects of it can be completed in about 4-5 hours during a single visit. Selected students, who are training in the health professions, will also observe and participate in the study as part of their academic experience and to learn more about rare bone disorders.
Cost of travel and lodging will be covered for patients who qualify for this study. As a token of our appreciation, eligible participants who complete the study will also receive a $50 payment using a generous donation from the The XLH Network, Inc.
This study will also include an additional online survey for individuals 18 and older, to better understand the experience of living with XLH as an adult, and the transition to adulthood and adult-oriented care for those diagnosed in childhood.
Study HIC#: 5414
Principal Investigator: Dr. Carolyn M. Macica
Patient coordinator: Erika J. Parisa
Contact information: XLHstudy@quinnipiac.edu
AND A FINAL NOTE FROM THE XLH NETWORK: As always, the XLH Network, Inc. does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the research study's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.