Featured

Status

Health Topics

Any Category
Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Clear Filters

Search Clinical Trials

7 Results
Not Yet Recruiting
Heart Coherence Training on Vascular Ehlers-Danlos Syndrome Patients
Vascular Ehlers Danlos Syndrome (VEDS) is caused by pathogenic variants of the COL3A1 gene, resulting abnormal Type III collagen protein. This impacts the body's connective tissue and makes people with …
Baylor Role: Lead Sponsor
Recruiting
Oxytocin for Hypermobile Ehlers-Danlos Syndrome
This will be a single-site study to evaluate the effect of IV oxytocin on chronic pain in female adult patients with hypermobile EDS. Oxytocin secretion in the body is dynamic …
Baylor Role: Lead Sponsor
Recruiting
Investigation of the Genetics of Hematologic Diseases
Participants will be individuals (proband) receiving therapy or expert consultation regarding a non-malignant hematologic disorder. We propose to use genomics, transcriptomics, proteomics and metabolomic analysis coupled with family linkage studies …
Baylor Role: Collaborator
Active, Not Recruiting
Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
Dyskeratosis congenita (DC) is an inherited multisystem disorder, which classically presents with a clinical triad of skin pigment abnormalities, nail dystrophy, and oral leukoplakia. DC is part of a spectrum …
Baylor Role: Collaborator
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
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
Study of the Nutritional, Metabolic, and Body Composition Profile in Children and Adolescents With Epidermolysis Bullosa
PROTOCOL OUTLINE: Data collected from a 5-day food diary are analyzed for protein, nutrient, and calorie intake. Nutritional, metabolic, and body composition are evaluated by indirect calorimetry, total body electrical …
Baylor Role: Collaborator