Study of ALPL gene variants in hypophosphatasia in Russia
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This study looks at how changes in the ALPL gene affect the natural course of hypophosphatasia (HPP). It aims to learn more about the condition in people who have not received enzyme replacement therapy.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must be 4 years or older.
- You must have a confirmed diagnosis of hypophosphatasia with low alkaline phosphatase levels on at least two tests.
- You must have a genetic test showing one change (monoallelic variant) in the ALPL gene.
- You must not have received enzyme replacement therapy for HPP before.
- You cannot be pregnant or breastfeeding.
- You must agree to sign a consent form (or have a parent/guardian do so).
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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