Study of Mitochondrial Metabolism in People Aged 2 and Older With Genetically Confirmed Nephropathic Cystinosis Receiving Oral Cysteamine

What this Trial Is About

Cystinosis is a rare inherited disease caused by mutations in the CTNS gene, leading to the buildup of cystine in cells and causing severe damage, especially to the kidneys, with symptoms starting early in life. This condition also affects other organs, including bones, where premature aging and musculoskeletal problems may develop. Researchers aim to better understand how mitochondrial energy metabolism dysfunction might contribute to these complications in cystinosis patients. The study involves patients with genetically confirmed nephropathic cystinosis who are receiving oral cysteamine and are undergoing conservative treatment on their native kidneys. Researchers will analyze mitochondrial function by measuring membrane potential and respiratory chain activity in circulating monocyte cells. Clinical and biological assessments including metabolomic analysis of blood and urine samples will be performed to characterize musculoskeletal disorders. Participants will be monitored over 24 months with various evaluations including blood pressure, bone deformities, muscle strength tests, and laboratory tests such as inflammatory markers and vitamin levels. Researchers will track mitochondrial membrane potential and oxygen consumption rates in cells, along with other metabolic markers. The study seeks to identify underlying mechanisms of bone disease and premature aging in cystinosis to guide future therapies.

Cystinosis and Mitochondrial Metabolism