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Completed
Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
The investigators will study and compare how effectively sodium phenylbutyrate, sodium benzoate, and a combination of the two, help excrete nitrogen in healthy volunteers. Subject participation will require three, separate, …
Baylor Role: Lead Sponsor
Completed
Nitric Oxide Supplementation in Argininosuccinic Aciduria
The investigators will perform a double blind, randomized, placebo-controlled, crossover study of NO supplementation in ASA patients assessing endothelial function and blood pressure as primary endpoints, and markers of nitric …
Baylor Role: Lead Sponsor
Completed
Seattle-PAP Bubble Nasal CPAP and Work of Breathing
The primary outcome variable is work of breathing (WOB) over a two hour period, estimated from pressure-rate products, which are assessed with 6 Fr (2 mm) catheters placed in the …
Baylor Role: Collaborator
Completed
Novel Dose Escalation to Predict Treatment With Hydroxyurea
To be eligible to participate in this study, patients must have decided that they want to begin hydroxyurea therapy. Patients choosing to participate in this study will be assigned randomly …
Baylor Role: Lead Sponsor
Completed
A Phase II Trial of Regadenoson in Sickle Cell Anemia
If you are willing to participate in this research study you will be asked to undergo some screening tests and procedures to confirm your eligibility. Many of these tests and …
Baylor Role: Collaborator
Completed
A Safety Study of NNZ-2566 in Patients With Rett Syndrome
Rett Syndrome is a developmental disorder primarily if not exclusively affecting females. The disorder is characterized by apparent normal development in early infancy (6-18 months), followed by a period of …
Baylor Role: Collaborator
Completed
Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
This is an interventional, case control study to investigate the production of nitric oxide in patients with citrullinemia type I. Through the infusion of isotopes [15N2-ureido] arginine, [5-13C,4, 4, 5, …
Baylor Role: Lead Sponsor
Completed
Fetal Endotracheal Occlusion (FETO) in Severe and Extremely Severe Congenital Diaphragmatic Hernia
Enrollment Women carrying fetuses with severe or extremely severe CDH and a normal karyotype will undergo routine clinical evaluation. The fetuses will be 27+0/7 to 29+6/7 weeks of gestational age …
Baylor Role: Collaborator
Completed
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
Subjects with AS, RTT or PWS and normal siblings (controls) will be recruited for study participation. Subjects will be recruited from the Rare Disease Clinical Research Network (RDCRN) consortium registries …
Baylor Role: Lead Sponsor
Completed
Calcium Absorption in Patients With Rothmund-Thomson Syndrome
This is an evaluation of bone calcium deposition in patients with Rothmund-Thomson Syndrome (RTS). This study includes one study visit during which subjects will be admitted to the inpatient unit …
Baylor Role: Lead Sponsor