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Trial record 1 of 1 for:    "Opitz Gbbb Syndrome, Type I" | "tannic acid"
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Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

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ClinicalTrials.gov Identifier: NCT00272844
Recruitment Status : Completed
First Posted : January 9, 2006
Results First Posted : October 20, 2017
Last Update Posted : October 20, 2017
Sponsor:
Information provided by (Responsible Party):
Mira Irons, Boston Children’s Hospital

Study Type Interventional
Study Design Intervention Model: Single Group Assignment;   Masking: None (Open Label);   Primary Purpose: Treatment
Condition Smith-Lemli-Opitz Syndrome
Intervention Drug: crystalline cholesterol oil-based suspension
Enrollment 23
Recruitment Details Patients newly diagnosed with Smith-Lemli-Opitz syndrome at Boston Children's Hospital were offered enrollment in the study from 1998 until it's completion. The study was completed and closed to enrollment here in June, 2010 and the IND was withdrawn in July, 2011.
Pre-assignment Details  
Arm/Group Title Cholesterol Supplementation
Hide Arm/Group Description 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.
Period Title: Overall Study
Started 23
Completed 18
Not Completed 5
Reason Not Completed
Withdrawal by Subject             5
Arm/Group Title Cholesterol Supplementation
Hide Arm/Group Description 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.
Overall Number of Baseline Participants 23
Hide Baseline Analysis Population Description
All patients had elevation of 7-DHC diagnostic of SLOS
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 23 participants
<=18 years
18
  78.3%
Between 18 and 65 years
5
  21.7%
>=65 years
0
   0.0%
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 23 participants
Female
12
  52.2%
Male
11
  47.8%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
United States Number Analyzed 23 participants
23
1.Primary Outcome
Title Number of Responders
Hide Description 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.
Time Frame Every 3-6 months for an approximate median of 5 years
Hide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Cholesterol Supplementation
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 18
Measure Type: Count of Participants
Unit of Measure: Participants
18
 100.0%
2.Secondary Outcome
Title Number of Growth Responders
Hide Description Growth response was defined as an increase in general health, growth, and behavior.
Time Frame Every 3-6 months for an approximate median of 5 years
Hide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Cholesterol Supplementation
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 18
Measure Type: Count of Participants
Unit of Measure: Participants
18
 100.0%
3.Secondary Outcome
Title Number of Participants With Improved Neuropsychological Development
Hide Description Improved neuropsychological development is defined as progressively achieving developmental milestones
Time Frame Every 3-6 months for an approximate median of 5 years
Hide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Cholesterol Supplementation
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 18
Measure Type: Count of Participants
Unit of Measure: Participants
18
 100.0%
Time Frame [Not Specified]
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title Cholesterol Supplementation
Hide Arm/Group Description 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.
All-Cause Mortality
Cholesterol Supplementation
Affected / at Risk (%)
Total   --/-- 
Show Serious Adverse Events Hide Serious Adverse Events
Cholesterol Supplementation
Affected / at Risk (%)
Total   0/23 (0.00%) 
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 1%
Cholesterol Supplementation
Affected / at Risk (%)
Total   0/23 (0.00%) 
Certain Agreements
All Principal Investigators ARE employed by the organization sponsoring the study.
Results Point of Contact
Name/Title: Dr. Mira Irons
Organization: Boston Children's Hospital
Phone: 617-355-2449
Responsible Party: Mira Irons, Boston Children’s Hospital
ClinicalTrials.gov Identifier: NCT00272844     History of Changes
Other Study ID Numbers: 03-11-189R
First Submitted: January 4, 2006
First Posted: January 9, 2006
Results First Submitted: July 29, 2013
Results First Posted: October 20, 2017
Last Update Posted: October 20, 2017