7 Clinical Trials for Various Conditions
The management of steroid-resistant nephrotic syndrome (SRNS) remains a persistent problem for investigators in part because of the wide array of pathogenic cccccccccc mechanisms that contribute to these disorders as well as the lack ofs. While glucocorticoids remain the primary therapy for many forms of protein uric glomerularxxxxxxxxx diseases, prolonged use is associated with significant morbidities including steroid induced diabetes, metabolic bone disease, and excessive weight gain.
Focal Segmental Glomerulosclerosis (FSGS) is a devastating kidney disease which is difficult to treat and carries a poor prognosis, with 50% of affected children progressing to end stage renal disease (ESRD). The purpose of this study is to investigate oral galactose as a benign treatment for FSGS in children. The investigators hypothesize that galactose, a simple milk sugar thought to bind to the protein factor (FSPF) that causes FSGS thereby inactivating it and stopping it from damaging the kidney, resulting in a reduction in glomerular permeability to albumin and decrease in proteinuria in children with nephrotic syndrome secondary to FSGS.
The objective of this study is as follows: * Perform genetic analysis to define the prevalence of each of the known gene mutations in an unselected cohort of patients with focal segmental glomerulosclerosis (FSGS) * Perform a comprehensive assessment of cardiovascular status to determine the incidence of any cardiac abnormalities in patients with FSGS * Determine if patients with mutations in specific proteins are more likely to have cardiovascular abnormalities * Initiate long-term follow up in all patients to determine whether cardiac prognosis is related to any specific genetic abnormality
This is a prospective longitudinal natural history study with a retrospective cross-sectional arm aimed at determining the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS), a recently recognized inborn error of metabolism. The central hypothesis is that age of onset, other disease features, and disease biomarkers will be predictive of quality of life (QOL) and survival in SPLIS patients.
This protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (SPLIS), also known as NPHS14, and to create a SPLIS patient registry. Medical records, radiological and pathology results, blood test results, and genetic information will be collected. Samples of blood, cheek cells, urine and stool may be collected for analysis. If a skin biopsy has been performed for medical care, cells from the biopsy may be analyzed. No treatment or other intervention is involved in this study. However, the effect of treatments administered by the patient's physician may be detected and monitored based on changes in the blood or urine.
This multi-site, pilot study will assess vitamin D supplementation in children and young adults with Glomerular Disease. .
This study will investigate whether RE-021 (Sparsentan), a selective dual-acting receptor antagonist with affinity for endothelin (A type) and angiotensin II receptors (Type 1), is safe and effective in treating patients with focal segmental glomerulosclerosis (FSGS).