Clinical trials: Genetics
DiGeorge Syndrome, Shprintzen Syndrome
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II.
- Conditions
- DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple
- Trial name
- NCT00005102
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- National Center for Research Resources (NCRR)
Primary Ciliary Dyskinesia
Genetic Study of Patients With Primary Ciliary Dyskinesia
OBJECTIVES: I. Characterize the clinical presentation of patients with primary ciliary dyskinesia. II. Identify the genetic mutations associated with this disease.
- Trial name
- NCT00005650
- Where
- United States
- Volunteers
- 180 people
- Sponsor
- National Center for Research Resources (NCRR)
Neutropenia, Sickle Cell Anemia
Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders
OBJECTIVES: I. Determine the efficacy of bone marrow transplantation using matched related donors in patients with nonmalignant hematologic disorders. II.
- Conditions
- Neutropenia, Sickle Cell Anemia, Thalassemia Major, Red-Cell Aplasia, Pure
- Trial name
- NCT00005893
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Sponsor
- Fairview University Medical Center
I Cell Disease, Fucosidosis
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory…
- Conditions
- I Cell Disease, Fucosidosis, Globoid Cell Leukodystrophy, Adrenoleukodystrophy
- Trial name
- NCT00005900
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center
Chediak-Higashi Syndrome, Graft Versus Host Disease
Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders
OBJECTIVES: I. Determine the efficacy of unrelated donor hematopoietic stem cell transplantation in the treatment of patients with life threatening hemophagocytic disorders. II.
- Conditions
- Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis
- Trial name
- NCT00006056
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Fairview University Medical Center
Methionine Adenosyltransferase Deficiency, Metabolism, Inborn Errors
Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
OBJECTIVES: I. Determine whether plasma choline and breast milk choline levels are low at fasting in a patient with methionine adenosyltransferase deficiency, and if the choline levels are low, determine whether choline levels…
- Trial name
- NCT00006061
- Testing
- phosphatidylcholine
- Volunteers
- 1 people
- Sponsor
- National Center for Research Resources (NCRR)
Cystic Fibrosis
Randomized Study of Pancrelipase With Bicarbonate (PANCRECARB) Capsules in Reducing Steatorrhea in Patients With Cystic Fibrosis
OBJECTIVES: I. Compare the efficacy of enteric coated pancrelipase with bicarbonate (PANCRECARB) capsules versus the patient's usual enteric coated pancreatic enzyme without bicarbonate in decreasing fecal fat and nitrogen losses…
- Trial name
- NCT00006063
- Testing
- pancrelipase with bicarbonate
- Volunteers
- 24 people
- Sponsor
- National Center for Research Resources (NCRR)
Osteoporosis, Thalassemia Major
Diagnostic Pilot Study of Dual Energy Absorptiometry in the Detection of Osteopenia or Osteoporosis in Patients With Thalassemia Major
OBJECTIVES: I. Determine the frequency and severity of osteopenia and osteoporosis in patients with thalassemia major who undergo dual energy x-ray absorptiometry, and correlate these findings with other relevant endocrinologic…
- Conditions
- Osteoporosis, Thalassemia Major, Osteopenia
- Trial name
- NCT00006138
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
Cystic Fibrosis
Study of Total Energy Expenditure in Infants and Children With Moderate to Severe Cystic Fibrosis
OBJECTIVES: I. Compare the resting energy expenditure using respiratory calorimetry in infants and children with moderate to severe cystic fibrosis versus age matched healthy controls. II.
- Trial name
- NCT00006273
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Stenosis, Histiocytoma
Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone
OBJECTIVES: I. Identify and characterize the gene causing diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone. II. Determine the clinical manifestations of this disease in these patients.
- Trial name
- NCT00007046
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Cystic Fibrosis
Study of Metabolic Effects of Pregnancy in Women With Cystic Fibrosis
OBJECTIVES: I. Compare the clinical status of pregnant vs non-pregnant women with cystic fibrosis. II. Determine glucose tolerance during each trimester of pregnancy in these women. III.
- Trial name
- NCT00014768
- Testing
- glucose, insulin, leucine
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)