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10 Results
Recruiting
Marfan Syndrome Moderate Exercise Trial II
Marfan syndrome (MFS) is a distinctive connective tissue disorder with clinical phenotypes that affect multiple organ systems including the heart, bones, ligaments, and eyes, and are associated with significant risk …
Baylor Role: Lead Sponsor
Recruiting
Genetic Inclusion by Virtual Evaluation
Inadequate access to genetics evaluation and genomic testing in the Hispanic minorities living along the Texas-Mexico has marginalized the most vulnerable pediatric group. In this study, we will (1) implement …
Baylor Role: Lead Sponsor
Completed
Hypotension in Children With Down Syndrome With Anesthesia Induction
Children generally undergo induction of anesthesia by inhalation of sevoflurane. This is particularly relevant for children with developmental delays as to avoid placement of an IV while awake. However, children …
Baylor Role: Lead Sponsor
Completed
Marfan Syndrome Moderate Exercise Pilot
Marfan syndrome (MFS) affects multiple organ systems including the heart, bones, ligaments, and eyes, and is associated with significant risk of aortic dissection. Given anecdotal reports of aortic dissection, limited …
Baylor Role: Lead Sponsor
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
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
Active, Not Recruiting
Study of Selected X-linked Disorders: Goltz Syndrome
Goltz syndrome or Focal Dermal Hypoplasia (FDH) is an X-linked dominant neurodevelopmental disorder. The primary features of FDH include areas of hypoplastic skin (atrophy, linear pigmentation and herniation of fat …
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
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic, otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal …
Baylor Role: Collaborator