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Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome

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ClinicalTrials.gov Identifier: NCT00114634
Recruitment Status : Completed
First Posted : June 16, 2005
Results First Posted : April 9, 2014
Last Update Posted : January 29, 2016
Sponsor:
Information provided by (Responsible Party):
Forbes Porter, M.D., National Institutes of Health Clinical Center (CC)

Study Type Interventional
Study Design Allocation: Randomized;   Intervention Model: Crossover Assignment;   Masking: Triple (Participant, Care Provider, Investigator);   Primary Purpose: Treatment
Condition Smith-Lemli-Opitz Syndrome
Interventions Dietary Supplement: Egg yolk preparation with cholesterol
Dietary Supplement: Egg substitute, without cholesterol
Enrollment 13

Recruitment Details October to July 2008
Pre-assignment Details no exclusions
Arm/Group Title Egg Yolk or no Egg Yolk
Hide Arm/Group Description This was a double-blind, placebo-controlled, cross-over design. The trial was composed of five 2-week phases. Two phases, phases 2 and 4, were double-blinded. During these phases, subjects were either on placebo (egg substitute with no cholesterol) or cholesterol supplementation (pasteurized egg yolk). During the interval phases, 1, 3 and 5, subjects were maintained on baseline therapy of 150 mg/kg/day of crystalline cholesterol suspended in Ora-Plus. Order of placebo versus cholesterol was random with 6 subjects receiving placebo first (in phase 2) and 4 subjects receiving cholesterol containing pasteurized egg yolk first. 13 subjects were enrolled, only 10 subjects completed the study.
Period Title: Overall Study
Started 13
Completed 10 [1]
Not Completed 3
Reason Not Completed
failure to return forms             3
[1]
Assessment forms lost by one failure to complete and return forms by two
Arm/Group Title Egg Yolk or no Egg Yolk
Hide Arm/Group Description All subjects were on cholesterol suspension or egg yolk versus no egg yolk.
Overall Number of Baseline Participants 10
Hide Baseline Analysis Population Description
[Not Specified]
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 10 participants
<=18 years
9
  90.0%
Between 18 and 65 years
1
  10.0%
>=65 years
0
   0.0%
Age, Continuous  
Mean (Standard Deviation)
Unit of measure:  Years
Number Analyzed 10 participants
11.4  (4.9)
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 10 participants
Female
6
  60.0%
Male
4
  40.0%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
United States Number Analyzed 10 participants
10
Severity score   [1] 
Median (Full Range)
Unit of measure:  Units on a scale
Number Analyzed 10 participants
17
(6 to 28)
[1]
Measure Description: Severity score ranges from 0-100; the higher the score the greater the severity
1.Primary Outcome
Title Hyperactivity Sub-scale of the Aberrant Behavior Checklist-Community (ABC-C).
Hide Description The Aberrant Behavior Checklist-Community (ABC-C) is a measure used to identify treatment efficacy among intellectually impaired individuals. ABC Subscale IV (Hyperactivity) has 16 items, each can be rated from 0 to 3, with 0 equal to not at all a problems, one the problem is the behavior but slight in degree, to the problem is moderately serious, 3 the problem is severe in degree. For this subscale, score can go from 0 - 48. The higher the score, the worse the hyperactivity. The comparison in this study was made between the blinded phases when patients received either egg yolk (treated, +cholesterol) or egg substitute (untreated, -cholesterol). Order was randomized.
Time Frame 2 weeks
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Crossover Study
Hide Arm/Group Description:
This was a double-blind, placebo-controlled, cross-over design. The trial was composed of five 2-week phases. Two phases, phases 2 and 4, were double-blinded. During these phases, subjects were either on placebo (egg substitute with no cholesterol) or cholesterol supplementation (pasteurized egg yolk). During the interval phases, 1, 3 and 5, subjects were maintained on baseline therapy of 150 mg/kg/day of crystalline cholesterol suspended in Ora-Plus. Order of placebo versus cholesterol was random with 6 subjects receiving placebo first (in phase 2) and 4 subjects receiving cholesterol containing pasteurized egg yolk first. 13 subjects were enrolled, only 10 subjects completed the study.
Overall Number of Participants Analyzed 10
Mean (Standard Error)
Unit of Measure: units on a scale
Untreated 8.6  (2.3)
Treated 8.6  (2.2)
Show Statistical Analysis 1 Hide Statistical Analysis 1
Statistical Analysis Overview Comparison Group Selection Crossover Study
Comments [Not Specified]
Type of Statistical Test Superiority or Other
Comments [Not Specified]
Statistical Test of Hypothesis P-Value 1.0
Comments [Not Specified]
Method t-test, 2 sided
Comments [Not Specified]
2.Secondary Outcome
Title ABC Irritability Sub-scale
Hide Description ABC Subscale I (Irritability) has 15 items, each can be rated from 0 to 3, with 0 equal to not at all a problem, 1 the problem is the behavior but slight in degree, 2 the problem is moderately serious, 3 the problem is severe in degree. For this subscale, score can go from 0 - 45
Time Frame 2 weeks
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Placebo Cholesterol
Hide Arm/Group Description:
egg substitute
pasteurized egg yolk
Overall Number of Participants Analyzed 10 10
Mean (Standard Error)
Unit of Measure: units on a scale
8.300  (2.2) 8.8  (1.9)
3.Secondary Outcome
Title ABC Lethargy Sub-scale
Hide Description ABC Subscale II (Lethargy) has 16 items, each can be rated from 0 to 3, with 0 equal to not at all a problems, 1 the problem is the behavior but slight in degree,2 the problem is moderately serious, 3 the problem is severe in degree. For this subscale, score can go from 0 - 48.
Time Frame 2 weeks
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Placebo Cholesterol
Hide Arm/Group Description:
egg substitute
pasteurized egg yolk
Overall Number of Participants Analyzed 10 10
Mean (Standard Error)
Unit of Measure: units on a scale
3.7  (0.7) 3.6  (0.8)
4.Secondary Outcome
Title ABC Stereotypy Sub-scale
Hide Description ABC Subscale III (Stereotypy) has 7 items, each can be rated from 0 to 3, with 0 equal to not at all a problems, 1 the problem is the behavior but slight in degree, 2 the problem is moderately serious, 3 the problem is severe in degree. For this subscale, score can go from 0 - 21.
Time Frame 2 weeks
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Placebo Cholesterol
Hide Arm/Group Description:
egg substitute
pasteurized egg yolk
Overall Number of Participants Analyzed 10 10
Mean (Standard Error)
Unit of Measure: units on a scale
1.6  (0.6) 2.0  (0.8)
5.Secondary Outcome
Title ABC Inappropriate Behavior Sub-scale
Hide Description ABC Subscale V (Inappropriate speech) has 4 items, each can be rated from 0 to 3, with 0 equal to not at all a problems, 1 the problem is the behavior but slight in degree, 2 the problem is moderately serious, 3 the problem is severe in degree. For this subscale, score can go from 0 - 12.
Time Frame 2 weeks
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Placebo Cholesterol
Hide Arm/Group Description:
egg substitute
pasteurized egg yolk
Overall Number of Participants Analyzed 10 10
Mean (Standard Error)
Unit of Measure: units on a scale
1.0  (0.4) 1.0  (0.4)
6.Secondary Outcome
Title ABC Total Score
Hide Description ABC total score includes all the questions from subscales, with range of 0 to 174. Higher the score , the greater the problem.
Time Frame 2 weeks
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Placebo Cholesterol
Hide Arm/Group Description:
egg substitute
pasteurized egg yolk
Overall Number of Participants Analyzed 10 10
Mean (Standard Error)
Unit of Measure: units on a scale
23.2  (4.8) 23.0  (3.2)
Time Frame [Not Specified]
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title Group 1
Hide Arm/Group Description All subjects were on cholesterol suspension or egg yolk versus no egg yolk.
All-Cause Mortality
Group 1
Affected / at Risk (%)
Total   --/-- 
Show Serious Adverse Events Hide Serious Adverse Events
Group 1
Affected / at Risk (%)
Total   0/13 (0.00%) 
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 5%
Group 1
Affected / at Risk (%)
Total   0/13 (0.00%) 
Certain Agreements
All Principal Investigators ARE employed by the organization sponsoring the study.
Results Point of Contact
Name/Title: Forbes D Porter
Organization: NICHD, NIH
Phone: 301-435-4432
Responsible Party: Forbes Porter, M.D., National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier: NCT00114634     History of Changes
Other Study ID Numbers: 050168
05-CH-0168 ( Other Identifier: NIH CC )
First Submitted: June 15, 2005
First Posted: June 16, 2005
Results First Submitted: March 19, 2010
Results First Posted: April 9, 2014
Last Update Posted: January 29, 2016