Study of GEMIN-5 genetic disorder

This study looks at how people’s genetic test results relate to health changes over time in conditions caused by gene differences. If you already have genetic confirmation of a disease-causing variant, you may be able to join.

This trial follows people with genetic neurodegenerative (brain-wasting) disorders over time to better understand how the condition changes. The goal is to learn patterns that could help future treatments or care plans.

This study follows people with spinal muscular atrophy (SMA) who have a particular genetic change in the SMN1 gene. It compares long-term outcomes for those who do and do not receive disease-modifying treatments, to better understand what helps over time.

This study follows people with rare genetic conditions (GM1, GM2, sialidosis, or galactosialidosis) that affect how the body breaks down certain substances in cells. Researchers track how these diseases progress to better understand them and potentially help future patients.

This study is looking for children and teens with spinal muscular atrophy (SMA) who are already on a treatment like Spinraza, Evrysdi, or Zolgensma. The goal is to understand different forms of SMA and how the treatment affects them over time.

This study looks at how muscles work in children and young adults with spinal muscular atrophy (SMA) who are taking or starting SMN-directed therapies (like Evrysdi, Spinraza, or Zolgensma). It aims to understand the body's response to these treatments, which could help improve future care.