Status | Study |
Recruiting |
Study Name: Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Condition: Craniometaphyseal Dysplasia Date: 2012-06-25 |
Recruiting |
Study Name: SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Condition: Smith-Lemli-Opitz Syndrome Date: 2011-09-07 Interventions: Drug: Simvastatin Simvastatin |
Withdrawn |
Study Name: A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Condition: Smith-Lemi-Opitz Syndrome Date: 2011-08-09 |
Withdrawn |
Study Name: Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Condition: Smith-Lemli-Opitz Syndrome Date: 2011-05-11 Interventions: Dietary Supplement: Cholesterol supplementation Cholesterol supplementation may be achieved with SLOeste |
Terminated |
Study Name: Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions Condition: Arthrogryposis Craniofacial Abnormalities Posttraumatic St Date: 2011-02-27 Interventions: Other: PTSD Checklist-Specific |
Completed |
Study Name: Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Condition: Arthrogryposis Craniofacial Abnormalities Date: 2011-02-26 Interventions: Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels |
Recruiting |
Study Name: Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Condition: Freeman-Sheldon Syndrome Arthrogryposis Distal Type 2A Whi Date: 2010-06-14 Interventions: Other: PTSD Checklist-Civilian (PCL-C) |
Completed |
Study Name: The Natural History of Alpha-Mannosidosis Condition: Alpha Mannosidosis Date: 2007-07-09 |
Completed |
Study Name: Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Condition: Smith-Lemli-Opitz Syndrome Date: 2006-01-04 Interventions: Drug: crystalline cholesterol oil-based suspension 200 mg/mL suspension of crystalline cholesterol in oi |
Completed |
Study Name: Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Condition: Smith-Lemli-Opitz Syndrome Date: 2005-06-15 Interventions: Dietary Supplement: Egg yolk preparation with cholesterol |