Study of RNU4ATAC and RTTN gene conditions
Treatments studied
Part of Genetic & congenital clinical trials.
This study looks at rare genetic syndromes caused by changes in the RNU4ATAC or RTTN genes. It aims to understand how these changes affect the body by studying patients, their parents, and fetal tissue.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have a confirmed mutation in the RNU4ATAC or RTTN gene (from both parents).
- You may be a patient of any age with a related condition like TALS, RFMN, or LWS.
- Or you could be a healthy parent carrying one copy of the RNU4ATAC mutation.
- Or you could be a parent who had a miscarriage or termination of pregnancy if the fetus had the mutation.
- Written consent from you, a parent, or a guardian is required.
- You must be covered by a social security or health insurance plan.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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