According to a news release from biopharmaceutical company Mereo BioPharma Group plc (“Mereo”), the Osteogenesis Imperfecta Foundation (OIF), and the Osteogenesis Imperfecta Federation Europe (OIFE), enrollment is now complete for the Living with Osteogenesis Imperfecta: Understanding Experiences Based on Community Insight and Evidence (IMPACT) Survey. Altogether, the survey seeks to understand the experiences of patients with osteogenesis imperfecta (OI) and their families.
IMPACT Survey
Data from the IMPACT Survey is not yet available and will not be until some point next year. However, the IMPACT Survey stands to be the largest data repository in regards to OI. Over the course of three months, researchers collected data from 2,200 people from 65 separate countries. It is no secret that patients are the experts in their condition. Thus, patient responses within this survey have the potential to change the understanding of OI, future research, diagnostic tools, and even more insights into potential therapies. As there are no current approved treatment options for patients, using this data to spur new research and therapeutic development could be huge.
Osteogenesis Imperfecta (OI)
There are four main forms (I, II, III, and IV) of osteogenesis imperfecta (OI), a rare genetic disorder characterized by fragile and easily broken bones. OI is a highly variable disorder; patients may experience mild to severe effects, with varying symptoms. Most often, COLA1A1 or COL1A2 gene mutations cause osteogenesis imperfecta. While it can be inherited in an autosomal dominant (I, II, IV) or autosomal recessive (II) pattern, some patients undergo spontaneous genetic mutations. These gene mutations affect collagen, which plays a role in bone and connective tissue health. As a result, patients experience reduced bone mass and frequent fractures, often from little or no cause.
For patients with type I, symptoms include multiple bone fractures and bluish discoloration in the whites of the eyes. Next, patients with type II, the most severe form of osteogenesis imperfecta, experience numerous fractures, fragile skin, bone malformations, and underdeveloped lungs. These symptoms are often present from birth and can be life-threatening.
Patients with Type III often experience multiple symptoms from both of the first two forms. Finally, patients with OI type IV often experience a triangular facial appearance, scoliosis (abnormal spinal curvature), fragile bones, and a short stature.
