- Living With Osteogenesis IMPerfecta: UnderstAnding Experiences Based On Community InsighT and
Evidence Survey , theIMPACT Survey - More than 2200 individual responses collected over a 3-month period from some 65 countries in 8 languages
- Set to be the largest global gathering of data to date about the impact that Osteogenesis Imperfecta (OI) has on people with OI, families and caregivers
“The importance of these data cannot be overstated. The learnings directly from the OI community will help shape and improve care in a truly meaningful manner,” commented Dr
OI is a rare genetic condition caused by a collagen defect, which results in fragile bones and reduced bone mass resulting in bones that break easily. In severe cases patients may experience hundreds of fractures in a lifetime. In addition, people with OI often suffer muscle weakness, early hearing loss, fatigue, curved bones, scoliosis, respiratory and digestive problems, and short stature, leading to significant impacts on overall health and quality of life. Despite its severity, the full impact on people with OI, their families and caregivers are not broadly understood or well-documented. This is similar to many rare diseases, especially those, like OI, where there is no approved therapy.
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“We are thrilled to have collected the largest global gathering of data about the impact that osteogenesis imperfecta has on people with OI, families, and caregivers. This is a remarkable number of responses, and we eagerly await the first data publications,” added
The project is being overseen by a Steering Committee comprising representatives from both OIFE and OIF, specialized physicians treating both children and adults affected by OI and representatives from Mereo and Ultragenyx. A Data Management Committee will be responsible for ownership and management of the data and will decide on future requests from any party for use of the anonymized data.
“We wish to thank OIFE, OIF and the OI organizations around the world for supporting, leading and driving this initiative. We would also like to thank all the volunteers who supported the development, translation and promotion of the survey and, finally, the more than 2200 participants who took the time to complete the
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