Screening for acid sphingomyelinase deficiency in people with lung disease
Part of Blood & lymphatic, Brain & nervous system, Genetic & congenital, Hormones & metabolism, Lungs & breathing clinical trials.
This study tests people who have interstitial lung disease (a type of lung scarring) and certain other signs, like an enlarged spleen or low blood platelets, to see if they have a rare genetic condition called acid sphingomyelinase deficiency/Niemann-Pick disease types A and B.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have lung scarring seen on a CT scan confirmed by a doctor.
- You also have an enlarged spleen (or had it removed), low blood platelets, low good cholesterol, or parents who are blood relatives.
- You are willing to give written consent to join the study.
- You are covered by health insurance (not emergency care only).
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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