Biotinidase deficiency newborn screening and follow-up study
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This study looks at babies who had low biotinidase enzyme activity on their newborn screening test. It aims to understand the genetic cause and track their health over time. If your child had low activity on this test, this study may help provide important follow-up care.
Summary written for real people, not researchers, by Clin2.
Who can take part
- Your child had a newborn screening test showing low biotinidase enzyme activity (less than 50% or 30%, depending on the year) between January 2016 and December 2020.
- You (the parent or guardian) agree to sign a consent form allowing your child to join the study.
- Your child does not have any known chromosome problems or complex medical syndromes.
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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