Screening for two rare spleen and platelet conditions
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This screening study looks for two rare inherited conditions—Gaucher disease and acid sphingomyelinase deficiency—in people who have an enlarged spleen and low blood platelets. By identifying these conditions early, it may help manage symptoms and improve quality of life.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have an enlarged spleen (splenomegaly), as diagnosed by a doctor.
- You have low blood platelets (thrombocytopenia), as diagnosed by a doctor.
- You have not already been diagnosed with Gaucher disease.
- You have not already been diagnosed with acid sphingomyelinase deficiency.
- You have not been diagnosed with any type of cancer.
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 looks for two rare inherited disorders—Gaucher disease and acid sphingomyelinase deficiency (ASMD)—in people who already have a blood condition like monoclonal gammopathy (abnormal protein) or multiple myeloma. If you have an enlarged spleen or low platelets, you may be eligible to help researchers understand if these rare diseases are more common in this group.
This study looks for tiny particles in blood (called extracellular vesicles) that may help identify Gaucher disease and could guide future treatments. It also studies people who have Gaucher gene carrier status but do not have the disease, using careful genetic testing.
This study looks at how standard treatments for Gaucher disease affect lung problems, bone damage, and parkinson-like symptoms. It aims to find better ways to treat these complications and improve quality of life.
This trial tests a treatment called velaglucerase beta, which replaces an enzyme that people with Gaucher disease lack. It may help reduce enlarged spleen and liver, improve anemia, and increase platelet counts in children under 12.
This trial tests a flexible newborn screening process that looks for certain conditions early in life. It may help by catching problems sooner, when treatment can be started earlier.
This study checks if people with certain lung changes (called interstitial lung disease) might have a rare enzyme deficiency that can cause lung and other organ problems. Finding this could lead to better treatment options.
Hear when a new Gaucher Disease trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.