Understanding and treating Kosaki and Penttinen syndromes
Part of Genetic & congenital clinical trials.
This study looks at people with Kosaki or Penttinen syndromes, rare genetic conditions that affect growth and development. The goal is to learn more about these conditions and explore potential treatments.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have been diagnosed with Kosaki or Penttinen syndrome by a doctor.
- Genetic testing shows a specific change (called an activating variant) in the PDGFRB gene.
- You have been given information about the study and have signed a consent form.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This study investigates Proteus syndrome, a rare condition that causes abnormal overgrowth of body parts, and related disorders. Researchers want to understand how these conditions develop, progress over time, and affect people of different ages—including how they may change into adulthood.
This study is for people who have a rare syndrome or rare congenital condition and are seen at a rare-disease clinic. It aims to better understand these conditions and how care works in a team setting, which may help guide future treatment decisions.
This study looks at rare and ultra-rare conditions that affect brain development. It aims to learn more about what causes these conditions. You may join if you or your child have a diagnosed or suspected neurogenetic disorder.
This study follows people with rare types of glycogen storage disease (GSD) over time to learn more about how the disease progresses. It does not test a new treatment but will collect information to help future research.
This study looks at children who may have genetic (inherited) or metabolic (body chemistry) problems, including newborn screening and episodes of trouble. The goal is to better understand these conditions and identify children who may benefit from further care.
This study looks at people with certain inherited genetic conditions called RASopathies and their family members. It helps researchers understand these conditions and how genetic changes run in families, which may improve future care.
Hear when a new Kosaki Overgrowth Syndrome trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.