- recruiting
Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells
This study uses skin, urine, or blood samples from people with genetic conditions and healthy volunteers. Scientists turn these samples into special stem cells called iPSCs. These cells help us understand diseases better and test new treatments to help people in the future.
United Kingdom - recruitingNA
Prospective Cohort Study of Neurogenetic Diseases
This study looks at rare, inherited nerve conditions to understand them better. Researchers want to create a central point for information and samples to help develop new treatments. It involves regular check-ups and sample collection over three years for those with an identified condition.
France - enrolling by invitation
Sanger Human Cell Atlasing Project
This project aims to create a detailed map of all human cells, like a biological atlas. By understanding what makes each cell type unique, we hope to better understand how our bodies work, how diseases develop, and find new ways to diagnose and treat them. It's a big step towards future medicine.
United Kingdom - recruiting
Natural History of Type 1 Interferonopathies: Insights From a European Cohort
This study looks at rare genetic conditions called Type 1 interferonopathies, which affect the immune system and can cause various health problems. Researchers want to understand how these conditions develop over time in both children and adults to find better ways to diagnose and treat them.
Austria · Belgium · Croatia - recruiting
Adaptive Optics Retinal Imaging in Inherited and Acquired Retinal Disorders
This study uses a special camera to look closely at the light-sensing cells at the back of the eye in people with inherited or acquired eye conditions. It aims to understand these conditions better and see how treatments work by tracking changes over time.
Canada - recruitingNA
Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases
This study is collecting blood samples from children and adults with rare autoimmune and autoinflammatory diseases, and their families. This collection will help researchers understand these conditions better and find new ways to diagnose and treat them.
France - active not recruitingPHASE3
Long Term Extension Study in Patients With Primary Hyperoxaluria
This study offers long-term treatment with DCR-PHXC for people, including children, with Primary Hyperoxaluria (PH). It checks if the treatment is safe and works well over time for this rare genetic kidney condition.
United States · Australia · Canada