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Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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23 Results
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
Completed
A Trial of Levodopa in Angelman Syndrome
Levodopa is a prodrug that "delivers" dopamine to the brain. It is usually given with carbidopa, a peripheral decarboxylase inhibitor, to increase the bioavailability of levodopa. Animal studies have suggested …
Baylor Role: Collaborator
Completed
Fetal Surgery for Moderate Left Sided Congenital Diaphragmatic Hernia.
Isolated Congenital Diaphragmatic Hernia (CDH) can be diagnosed in the prenatal period, and remains associated with a 30 % chance of perinatal death and morbidity mainly because of pulmonary hypoplasia …
Baylor Role: Collaborator
Completed
Research Study for Children With Salt Wasting Congenital Adrenal Hyperplasia
The adrenal gland is a small organ of the body. It produces very important chemicals called hormones. One of these hormones, cortisol (the stress hormone) helps the body fight diseases. …
Baylor Role: Lead Sponsor
Completed
Erythropoetin Neuroprotection for Neonatal Cardiac Surgery
Hypothesis: Erythropoetin (EPO) will protect the neonatal brain in the perioperative period for congenital heart surgery. Using a prospective, randomized, placebo-controlled, double-blinded design, the specific aims of this study are: …
Baylor Role: Lead Sponsor
Completed
Dietary Supplements for the Treatment of Angelman Syndrome
AS is a neurologic disorder that may cause developmental delay, mental retardation, severe speech impairment, seizures, small head size, and problems with movement and balance in young children. AS is …
Baylor Role: Collaborator
Completed
Characterization of Angelman Syndrome
AS is a developmental disorder that affects movement, speech, and social demeanor. The disorder is caused by a deficiency of a maternally transmitted gene and is inherited at birth. Children …
Baylor Role: Collaborator
Completed
Corticosteroids in Postoperative Critically Ill Neonates With Low Cardiac Output Syndrome With Congenital Heart Disease
The study will be prospective. Patients who meet entry criteria will be randomized to receive corticosteroids versus placebo. Randomization will take into account biventricular versus univentricular repairs/palliations and whether the …
Baylor Role: Lead Sponsor