Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00272844|
Recruitment Status : Completed
First Posted : January 9, 2006
Results First Posted : October 20, 2017
Last Update Posted : October 20, 2017
|Condition or disease||Intervention/treatment||Phase|
|Smith-Lemli-Opitz Syndrome||Drug: crystalline cholesterol oil-based suspension||Phase 1 Phase 2|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||23 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome|
|Study Start Date :||January 1998|
|Primary Completion Date :||June 2011|
|Study Completion Date :||July 2011|
U.S. FDA Resources
|Experimental: Cholesterol supplementation||
Drug: crystalline cholesterol oil-based suspension
200 mg/mL suspension of crystalline cholesterol in oil. Dosage (generally 75-300 mg/kg/day in divided doses) is based on initial cholesterol levels and regulated to increase, yet maintain, cholesterol levels no higher than normal ranges.
- Number of Responders [ Time Frame: Every 3-6 months for an approximate median of 5 years ]Responders was defined as an increase in total serum cholesterol and a decrease in 7-DHC (7-Dehydrocholesterol), and 8-DHC (8-Dehydrocholesterol) were measured on all participants.
- Number of Growth Responders [ Time Frame: Every 3-6 months for an approximate median of 5 years ]Growth response was defined as an increase in general health, growth, and behavior.
- Number of Participants With Improved Neuropsychological Development [ Time Frame: Every 3-6 months for an approximate median of 5 years ]Improved neuropsychological development is defined as progressively achieving developmental milestones
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00272844
|United States, Massachusetts|
|Children's Hospital Boston|
|Boston, Massachusetts, United States, 02115|
|Principal Investigator:||Mira Irons, M.D.||Boston Children’s Hospital|