Learning about TNPO2 gene disorders

This is a global registry study for people who have a change (variant) in the TRPM3 gene. Researchers hope to learn more about the condition and how it affects patients.

This study looks at how children’s development progresses in CLN2 disease caused by a specific enzyme problem (TPP1). It may help doctors better understand outcomes and guide future care for children with this diagnosis.

This study follows people with a rare genetic muscle condition called TNNT1 myopathy over time. Researchers will track how the disease progresses to better understand it and help plan future treatments.

This study follows people with a TANGO2 gene change and collects medical information and samples over time. It aims to better describe the condition and build a biorepository (a secure collection of samples) to support future research.

This study collects information from patients with MNGIE (a rare genetic condition affecting how cells break down certain molecules) to better understand how the disease develops and progresses over time. By learning more about your experience, researchers hope to develop better treatments.

This study looks at how changes (mutations) in a gene called ACTG2 affect the muscles that move food through the gut in children and adults with a rare condition called pediatric intestinal pseudo-obstruction (PIPO). It may help researchers understand the condition better and find new ways to help patients.