Homocystinuria caused by Cystathionine Beta-Synthase (CBS) Deficiency is a rare autosomal-recessive metabolic condition characterized by an excess of homocysteine (Hcy) in the plasma, tissues and ...
PediQUEST Response proposes a new system of care that expects to improve quality of life in children, adolescents, and young adults with advanced cancer and their parents. The investigators want to ...
The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information. Carglumic acid was approved by the United States Food ...
The investigators are running an intervention study for young children with Tuberous Sclerosis Complex (TSC). The study will include free play-based behavioral intervention administered remotely that ...
B7451015 is a Phase 3 study to evaluate Abrocitinib with or without Topical Medications in patients aged 12 years and older who have moderate to severe atopic dermatitis and have completed a ...
The protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The ...
This research study is studying a drug Tovorafenib/DAY101 (formerly TAK-580, MLN2480) as a possible treatment a low-grade glioma that has not responded to other treatments. The name of the study drug ...
A study to evaluate the efficacy of MZ101 therapy in reducing liver stiffness.
In this research study we want to learn more about using non-invasive tools as a way to predict whether or not a child under general anesthesia will require and respond to fluid administration. It is ...
This is a single-arm, multi-site, single-dose, Phase 1/2 study to assess ST-400 in 6 subjects with transfusion-dependent β-thalassemia (TDT) who are ≥18 and ≤40 years of age. ST-400 is a type of ...