Clinical trials: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
The purpose of this study is to determine whether supplementation with an oil-based cholesterol suspension will correct the biochemical abnormalities in cholesterol and its precursors in individuals with the Smith-Lemli-Opitz…
- Trial name
- NCT00272844
- Testing
- crystalline cholesterol oil-based suspension
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Boston Children's Hospital
Diamond Blackfan Anemia
Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
The purpose of this study is to determine the safety and dosing of drug Sotatercept, as a subcutaneous injection, to stimulate production of red blood cell production. To be given every 28 days for up to four doses.
- Trial name
- ACE-011-DBA (NCT01464164)
- Testing
- Sotatercept, Sotatercept with prednisone boost
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Northwell Health
Smith-Lemli-Opitz Syndrome
Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
This study will evaluate the safety and effectiveness of simvastatin in treating children with Smith-Lemli-Opitz syndrome (SLOS).
- Trial name
- NCT00064792
- Testing
- Simvastatin Susp., OraPlus
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Forbes Porter, M.D.
Smith-Lemli-Opitz Syndrome
Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
This 10-week study will evaluate and compare behavior changes in children with Smith-Lemli-Opitz syndrome (SLOS) who are taking cholesterol supplementation versus those who are not on cholesterol supplementation.
- Trial name
- NCT00114634
- Testing
- Egg yolk preparation with cholesterol, Egg substitute, without cholesterol
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Smith-Lemli-Opitz Syndrome
SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation
The purpose of this study is to determine if simvastatin improves development and behavior in patients with Smith Lemli-Opitz syndrome (SLOS) receiving dietary cholesterol supplementation.
- Trial name
- NCT01434745
- Testing
- Simvastatin, Lactose
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Oregon Health and Science University
Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome and Cholic Acid
The purpose of this study is to determine whether dietary cholic acid therapy benefits people with Smith-Lemli-Opitz syndrome (SLOS) by leading to an increase in plasma cholesterol and reduction in harmful cholesterol precursors.
- Trial name
- NCT03720990
- Testing
- Cholic Acid
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- University of Nebraska