- Active not recruiting
Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones
This study looks into craniosynostosis, a condition where a baby's skull bones join too early. We want to understand what causes it, especially the coronal type, by studying genes and other factors. This could lead to better treatments for kids with this condition.
For: CraniosynostosisUnited States · France · Germany - RecruitingNA
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
This study is building a 'cohort' (a group of people) with Bardet-Biedl Syndrome (BBS) or Alström Syndrome (ALMS) in France. Researchers want to understand these rare conditions better over time, how current treatments affect daily life, and how the diseases progress.
For: Bardet-Biedl Syndrome · Alström SyndromeFrance - RecruitingNA
Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
This study looks at DNA and RNA in people with rare genetic conditions causing learning difficulties or muscle weakness. We want to find better ways to diagnose these conditions, especially when standard tests haven't found an answer. It involves taking blood and a small skin sample.
For: Rare Genetic DiseaseFrance - RecruitingNA
Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
This study looks for new ways to measure Charcot-Marie-Tooth disease type 1A (CMT1A) early on. It involves 35 people with CMT1A and 20 healthy volunteers, aged 10-30, over two years. The goal is to find markers that predict how the disease might progress.
For: Charcot-Marie-Tooth Disease Type 1AFrance