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To find out the effects of Maralixibat on the treatment of PFIC.

The purpose of this study is to (1) determine the minimum effective dose of abiraterone acetate that normalizes androstenedione levels in prepubertal children with CAH secondary to 21-hydroxylase deficiency (Phase 1 trial), and (2) assess the utility of abiraterone acetate in prepubertal children with CAH as adjunctive therapy to minimize excessive androgen secretion and allow more physiological glucocorticoid replacement (Phase 2 trial).

Individuals with Down syndrome are at risk for the development of Alzheimer's disease. This study seeks to explore if neurodegenerative biomarkers of this condition are present in childhood. In addition, this study will explore the possibility of these same biomarkers being present in children with autism spectrum disorder and other neurodevelopmental conditions.

This is a Phase 1/2, first-in-human, open-label, dose-escalation study designed to evaluate the safety, tolerability, and efficacy of BBP-631 administered to up to 25 adult participants diagnosed with classic congenital adrenal hyperplasia (CAH) (simple virilizing or salt-wasting, Group 1) or with classic salt-wasting CAH (Group 2) due to 21-hydroxylase deficiency (21-OHD) and who are monitored for 24 weeks post-treatment. All participants who receive BBP-631 will be followed for an additional 4.5 years for safety and efficacy in a separate long term follow up protocol (Study CAH-399). In total, all participants will be followed for at least 5 years after the date of treatment with BBP-631.

The goal of this study is to help researchers across the nation develop and tailor healthcare treatments to the individual. They will do this by collecting data & biospecimens that may enable a broad spectrum of research studies.

To test the effectiveness of an addiction-based weight loss intervention, embodied first as a smartphone app with telephone coaching (AppCoach) compared to (1) addiction model based weight-loss app alone (App) and (2) multi-disciplinary in-clinic weight loss intervention (Clinic) on weight outcomes of overweight and obese adolescents at 3, 6, 12 and 18 months post enrollment.

Learn more about healthy baby development and develop new tools for pediatricians so they can better support the unique development of each child.

To collect information on the long-term effects of XLH on children and adults who have participated in burosumab clinical trials, adults and children who have not participated in burosumab clinical trials, and who may or may not have been treated with burosumab during the course of the study.

The objective of this study is to learn how anemia may affect oxygen delivery to the brain as measured by magnetic resonance imaging (MRI). By studying this, we hope to better identify people who may benefit from correction of their anemia.

An investigation of the utility of non-invasive transcranial Doppler (TCD) ultrasound in the prediction of moyamoya disease in persons with Down syndrome with the goal of identifying cerebrovascular disease before it causes a stroke.