Clinical trials: Genetic Syndrome
Turner's Syndrome
Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome
RATIONALE: Turner's syndrome is a disease in which females are missing all or part of one X chromosome and do not produce the hormones estrogen and androgen.
- Trial name
- NCT00004275
- Testing
- growth hormone, oxandrolone
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Turner's Syndrome
Effect of Estrogen on Mental and Social Functioning in Girls With Turner's Syndrome
RATIONALE: Turner's syndrome is a disease in which females are missing all or part of one X chromosome and do not produce estrogen. Giving estrogen is standard treatment for girls who have Turner's syndrome.
- Trial name
- NCT00004274
- Testing
- Estrogen
- Where
- United States
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome
Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
OBJECTIVES: I. Identify the molecular defects responsible for primary immunodeficiency disorders. II. Explore the mutations within each syndrome to better understand the genetics of these disorders. III.
- Conditions
- X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome, Wiskott-Aldrich Syndrome, Leukocyte Adhesion Deficiency Syndrome
- Trial name
- NCT00004341
- Where
- United States
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Smith-Lemli-Opitz Syndrome
Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
OBJECTIVES: I. Examine the intestinal absorption of dietary cholesterol in patients with Smith-Lemli-Opitz syndrome. II. Measure the effect of dietary cholesterol on plasma sterol composition. III.
- Trial name
- NCT00004347
- Testing
- diet
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Center for Research Resources (NCRR)
Williams Syndrome, Angelman Syndrome
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II.
- Conditions
- Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome
- Trial name
- NCT00004351
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Hypoparathyroidism, Tetralogy of Fallot
Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects
OBJECTIVES: I. Identify latent hypoparathyroidism in normocalcemic adult survivors with repaired conotruncal cardiac defects, by evaluating parathyroid gland secretory function after induced hypocalcemia. II.
- Conditions
- Hypoparathyroidism, Tetralogy of Fallot, Pulmonary Valve Stenosis, Conotruncal Cardiac Defects
- Trial name
- NCT00004361
- Testing
- calcium gluconate, sodium citrate
- Volunteers
- 150 people
- Sponsor
- National Center for Research Resources (NCRR)
Werner's Syndrome
Descriptive Study of Recombinant Human Insulin-Like Growth Factor for Osteoporosis in Werner's Syndrome
OBJECTIVES: I. Assess the safety and efficacy of recombinant human insulin-like growth factor 1 in a patient with Werner's syndrome and osteoporosis.
- Trial name
- NCT00004815
- Testing
- growth hormone
- Volunteers
- 1 people
- Sponsor
- National Center for Research Resources (NCRR)
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)
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