Genetic heterogeneity in osteogenesis imperfecta.
D O Sillence, A Senn, D M Danks
https://pubmed.ncbi.nlm.nih.gov/458828Actively Recruiting
Led by University Hospital, Toulouse · Updated on 2026-05-08
30
Participants Needed
2
Research Sites
182 weeks
Total Duration
Osteogenesis Imperfecta (OI) is a rare genetic condition characterized by fragile bones, low bone mass, and a tendency to fracture. Children and adolescents with OI often experience chronic fatigue and reduced physical endurance, which affects their daily activities and quality of life. This condition is caused by genetic mutations affecting type 1 collagen, a key component of bone structure, and leads to muscle weakness alongside bone fragility. The study evaluates the impact of a 6-month adapted physical activity program designed specifically for young people with OI to improve their endurance capacities, measured by maximum oxygen consumption (VO2 peak). The intervention involves a Personalized Training Program tailored to each participant's condition and abilities. This adapted physical activity program supports the participants in safely increasing their physical endurance by considering their daily lives and individual needs. The program lasts for six months and aims to prevent physical deconditioning while promoting long-term health benefits. Researchers will monitor changes in endurance after completing the program. Participants will be assessed for endurance changes by measuring VO2 peak at the start and after six months. The study will also track quality of life improvements related to physical activity. To participate, children and adolescents must be able to walk and perform effort tests. The study excludes those who are pregnant, breastfeeding, or involved in other interventional research. Overall, participants will be supported and monitored throughout the program to understand how adapted physical activity can help manage OI symptoms and improve physical function over time.
CONDITIONS
Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Osteogenesis Imperfecta
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Total: 2 locations
1
CHU Montpellier Hôpital Arnaud de Villeneuve
Montpellier, France
Not Yet Recruiting
2
CHU Toulouse
Toulouse, France
Actively Recruiting
T
Thomas EDOUARD, MD
M
Marjolaine WILLEMS, MD
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
PREVENTION
Number of Arms
1
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