Abnormalities, Multiple - 435 Studies Found

Completed : Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Review
: Alagille Syndrome
: 2012-01-18
Completed : Studying Biomarker Expression in Samples From Patients With Down Syndrome and Acute Myeloid Leukemia or Other Transient Myeloproliferative Disorder
: Leukemia
: 2012-01-13
:
  • Genetic: RNA analysis
  • Genetic: reverse tra
Completed : Studying DNA in Samples From Younger Patients With Down Syndrome and Acute Myeloid Leukemia Treated on COG-AAML0431 Clinical Trial
: Leukemia
: 2012-01-06
:
  • Genetic: gene mapping
  • Genetic: microarray

Completed : Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
:
  • Usher Syndrome
  • Retinitis Pigmentosa

: 2012-01-04
: Genetic: UshStat Single dose, 3 ascending dose cohorts, followed by two maximum tolerated dose cohorts
Completed : Plasma Adiponectin Level and Vascular Endothelial and Smooth Muscle Cell Function in Children With Prader-Willi Syndrome
:
  • Prader-Willi Syndrome
  • Obesity

: 2011-07-31
Completed : Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction
:
  • Left Ventricular Noncompaction
  • Isolated Noncompaction of the Ventricular Myocardium
    • : 2011-10-27
Available : Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
:
  • Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency
  • Carnitine Palmitoyltransferase Defi
    : 2011-10-25
    : Drug: triheptanoin subjects will receive a modified diet containing triheptanoin (up to 2 grams/kg/24 ho
Completed : Effects of Exenatide on Overweight Adolescents With Prader-Willi Syndrome
: Prader-Willi Syndrome
: 2011-09-27
: Drug: Exenatide The investigators will give patients naive to GLP-1 agonists exenatide per manufacturer
Completed : A Study of RG1662 in Individuals With Down Syndrome
: Down Syndrome
: 2011-08-18
:
  • Drug: Placebo multiple oral do
Completed : SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation
: Smith-Lemli-Opitz Syndrome
: 2011-09-07
:
  • Drug: Simvastatin Simvastatin

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