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Recruiting
Study of Selected X-Linked Disorders: Aicardi Syndrome
Aicardi syndrome is a sporadic X-linked dominant, presumably male-lethal, neurodevelopmental disorder. It was initially characterized by agenesis of the corpus callosum, neuronal migration defects, eye abnormalities (chorioretinal lacunae, colobomas of …
Baylor Role: Lead Sponsor
Terminated
Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT
Patients will have received a haplo-identical stem cell transplant on our on-going study "CD45 (YTH-24 and YTH-54) and CD52 (Campath 1H) Monoclonal Antibody Conditioning Regimen for Allogeneic Donor Stem Cell …
Baylor Role: Lead Sponsor
Terminated
Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia
If clinically feasible (no aplasia, no active malignancy), the recipients marrow will be harvested and cryopreserved as a back up for use if non-engraftment/rejection is followed by failure to undergo …
Baylor Role: Lead Sponsor
Terminated
Oral Magnesium Pidolate, Hemoglobin SC Disease, MG Pidolate
This is a placebo-controlled study which means that the effectiveness of the magnesium medication (the chemical form of which is known as Mg pidolate) will be compared to placebo. A …
Baylor Role: Lead Sponsor
Terminated
Bone Marrow Transplant From Donor Using Less Toxic Conditioning for Patient With High Risk Hemoglobinopathies
To do the stem cell transplant, we must first kill most of the cells in the bone marrow that make the sickle hemoglobin or abnormal blood cells of severe beta …
Baylor Role: Lead Sponsor
Terminated
Bone Marrow Transplant From Related Donor for Patients With High Risk Hemoglobinopathies
To do the bone marrow transplant, we must first kill the cells in the bone marrow that make the abnormal red blood cells that are found in patients with severe …
Baylor Role: Lead Sponsor
Unknown Status
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
PROTOCOL OUTLINE: This protocol involves 2 clinical studies. Part A is a metabolic study of glutamine conversion to urea at different levels of protein intake, while on and off medications. …
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
Completed
Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome
PROTOCOL OUTLINE: Patients receive an electrocardiogram at baseline and every 6 months for 3 years. Clinical stage II patients undergo 24-hour Holter monitoring on the same schedule; age-matched controls are …
Baylor Role: Collaborator
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