Clinical trials: Genetic of Intellectual Deficiency
Mucopolysaccharidosis II
Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)
The purpose of this study is to determine whether the administration of iduronate-2-sulfatase enzyme in a weekly or every other week therapy frequency is safe and efficacious in patients with MPS II.
- Trial name
- NCT00069641
- Testing
- Iduronate-2-sulfatase enzyme replacement therapy
- Where
- 9 sites in United States, Brazil and 2 more
- Volunteers
- 96 people
- Sponsor
- Shire
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Bone Marrow Failure Syndrome, Thalassemia
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum…
- Conditions
- Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia
- Trial name
- NCT03513328
- Testing
- Thiotepa--single daily dose, Thiotepa--escalated dose
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Florida
Hunter Syndrome
Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome
The purpose of the study is to collect data on CSF biomarkers in patients with Hunter Syndrome that would serve as reference data for comparison with cognitively impaired patients with Hunter syndrome, patients with other…
- Trial name
- NCT01449240
- Testing
- No treatment
- Where
- 7 sites in United States, United Kingdom
- Volunteers
- 10 people
- Sponsor
- Shire
Non Malignant Disorders, Immunodeficiencies
Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders
The primary objective is to determine the feasibility of attaining acceptable rates of donor cell engraftment (>25% donor chimerism at 180 days) following reduced intensity conditioning (RIC) regimens in pediatric patients < 21…
- Conditions
- Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies
- Trial name
- NCT00744692
- Testing
- Unrelated Umbilical Cord Blood Transplant, Reduced Intensity Conditioning
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University