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Our team is working on a study to better understand neurological problems, including seizures and developmental delays, that occur in children with hyperinsulinism, including HI/HA syndrome, and type 1 diabetes mellitus.
Study focusing on non-invasive MRI procedures to measure biological activity within leg muscles of individuals, including both healthy volunteers and those with mitochondrial disease.
The purpose of this research is to study 18F-L-Fluoro-DOPA (F-DOPA), a tracer, which is used to take pictures of the pancreas.
This study is testing the safety and effectiveness of adding a targeted therapy (ruxolitinib) to standard chemotherapy for children, adolescents, and young adults with high-risk acute lymphoblastic leukemia with CRLF2 and other JAK pathway mutations.
The primary goal of this research study is to learn if patients with autosomal recessive polycystic kidney disease (ARPKD) are at risk for brain aneurysms or cardiovascular abnormalities.
A thorough review of outcome measures that assess disease progression has not been established for any of the subcategories of Alexander disease.
This two-phase study is being conducted to determine the reasons why some children with newly diagnosed Crohn's disease heal their bowel inflammation after one type of therapy and why others do not.
A gene in stem cells will then be edited to help the stem cells make more fetal hemoglobin. Higher levels of fetal hemoglobin can improve red blood cell sickling.
Patients will be followed in the facial nerve paralysis database and will be recruited for completion of a patient-facing survey.