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Recruiting
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
This research study looks to enroll as many people with LFS or TP53 gene variants as possible in order to: - Better estimate cancer risks in individuals with TP53 variants …
Baylor Role: Collaborator
Recruiting
Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Peripheral Blood
This is a revision to a project entitled "Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation." This study proposes to test the utility and accuracy of a new form …
Baylor Role: Collaborator
Recruiting
Genetic Disorders of Obesity Program Database
Children and adolescents who have suffered from severe weight gain prior to 5 years of age and who are seen in the Genetic Disorders of Obesity Program at Texas Children …
Baylor Role: Lead Sponsor
Recruiting
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
The investigators are conducting a natural history study of patients with congenital disorders of glycosylation (CDG). The study will look into the progression of the disease amongst the participants and …
Baylor Role: Collaborator
Completed
Pimavanserin Treatment in TS
Tourette Syndrome is typically treated with drugs that block or reduce the function of dopamine (a brain chemical involved in movement). However, many of these drugs have adverse effects including …
Completed
Assessment of a PERT-free Nutritional Therapeutic Delivery System for Cystic Fibrosis
This is a single center, randomized, double-blind, cross-over trial (with a follow-on single-blind safety evaluation stage), assessing a ready-to-drink nutritional supplement used without PERT ("PERT-free"), nutritional supplement for blood lipid …
Baylor Role: Collaborator
Completed
Chronic Liver Disease in Urea Cycle Disorders
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism.With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this improved …
Baylor Role: Lead Sponsor
Completed
Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) is a rare disorder that causes bones to break easily. People with OI may have broken bones with little or no trauma, dentinogenesis imperfecta (DI), and, in …
Baylor Role: Lead Sponsor
Completed
Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD
Argininosuccinate lyase deficiency (ASLD; also known as argininosuccinic aciduria) is the second most common urea cycle disorder (UCD) and accounts for 15-20% of all disorders of ureagenesis. Individuals with ASLD …
Baylor Role: Lead Sponsor
Recruiting
Myeloablative Conditioning, Prophylactic Defibrotide and Haplo AlloSCT for Patients With Sickle Cell Disease
This is a follow-up trial to NYMC 526 (NCT01461837) to assess the safety, efficacy and toxicity of administering Defibrotide prophylaxis for high-risk sickle cell or beta thalassemia patients undergoing a …
Baylor Role: Collaborator