Clinic study for people with rare genetic conditions
Part of Blood & lymphatic, Bones, joints & muscles, Brain & nervous system, Cancer, Ear, nose & throat, Eyes & vision, Genetic & congenital, Heart & circulation, Hormones & metabolism, Kidney & urinary, Skin, Women’s health & pregnancy clinical trials.
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.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a rare syndrome or a rare congenital (present since birth) condition
- You are planning to visit a multidisciplinary rare-disease clinic
- Your visit is through the endocrinology/internal medicine department
- The clinic is at Erasmus Medical Center
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 keeps a registry (a structured list) of people with rare diseases and may also track how the condition changes over time. It can help researchers better understand rare illnesses and find gaps in care, which may improve future treatments.
This study asks children with rare diseases and their families about what kind of palliative care (comfort and support) they need. It aims to understand how to better help families through their child's illness.
This study is looking for people with rare, unexplained conditions that cause early intellectual disability and low muscle tone. Researchers want to study your cells and blood to try to find new genetic causes that standard DNA tests missed.
This study looks at how young adults aged 15–25 with rare genetic conditions (like certain bone, skin, hearing, or facial conditions) are doing in school, work, and social life. Researchers want to understand what helps or prevents young people with these conditions from being included in their communities.
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 adults over time who have a very rare inherited brain disease, or whose illness seems like it may run in families. The goal is to better understand these conditions and how they progress.
Hear when a new Prader-Willi Syndrome trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.