Pathogenic variants in the Cyclin-dependent kinase like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD, MIM 300672, 105830), a severe developmental and epileptic encephalopathy associated with...
This research study is studying a new drug, uproleselan, to see if it is safe and effective in decreasing relapse after stem cell transplant and improving leukemia-free survival in pediatric patients...
Severe Aplastic Anemia (SAA) is a rare condition in which the body stops producing enough new blood cells. SAA can be cured with immune suppressive therapy or a bone marrow transplant. Regular...
This is a Phase 3, global, open-label extension (OLE) study of adjunctive GNX treatment in children and adults with TSC who previously participated in either Study 1042-TSC-3001 or Study 1042-TSC-2001
The purpose of this study is to evaluate the device performance and monitor the safety and effectiveness of the Berlin Heart EXCOR Active Driving System while being used with the approved EXCOR...
This Phase 3 multicenter study evaluates the maintenance of efficacy, safety and tolerability of ecopipam tablets in children, adolescents and adults in the treatment of Tourette's Disorder (TD). The...
Children with inadequate intestinal absorption due to loss of large amounts of small bowel require intravenous nutrition (feeding through the vein) to sustain hydration and nutrition to avoid...
In this study, investigators will study the impact of a 1:1 caregiver coaching intervention using the JASPER (Joint Attention, Symbolic Play, Engagement, Regulation) behavioral therapy curriculum...
The goal of the study is to examine multiple markers of anthropometrics, body composition, sarcopenia and frailty and compare them to dual energy X-ray absorptiometry (DXA) output, which is considered...
The purpose of this study is to evaluate the safety and tolerability of VX-522 in participants 18 years of age and older with cystic fibrosis and a cystic fibrosis transmembrane conductance regulator ...
The goal of this pilot prospective cohort study is to examine the reproducibility of gastric volume and emptying as measured by gastric ultrasound and its correlation to a gold-standard test for...
The TSC Biosample Repository collects and stores samples of blood, DNA, and tissues that scientists can request to use in their research. The samples we collect are all linked to clinical data in the...
The goal of this study is to evaluate the impact of a clinical decision support system (CDSS) in children receiving mechanical ventilation (MV) after surgery for congenital heart disease (CHD). The...
This is a phase II randomized double-blind placebo-controlled trial that aims at evaluating the safety and tolerability of oral encapsulated fecal microbial transplantation therapy (MTT) in peanut...
This study will evalute the effect of a low glycemic load (LGL diet on dysglycemia, insulin requirements, DXA-derived body composition, gastrointestinal symptoms and quality of life measures in adults...
The primary objective of this investigation is to evaluate the feasibility and safety of implantable loop recorder implantation (using the LUX-DX™) in newborns undergoing stage 1 palliation. The...
Crohn's disease (CD) is a condition that causes inflammation (swelling, redness) of the lining and wall of the small intestine, large intestine, or both. CD may be associated with abdominal cramps...
The purpose of this study is to examine if it is feasible to administer decitabine and filgrastim after allogenic hematopoietic stem cell transplant (HCT) in children and young adults with...
This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).
