Trial Outcomes & Findings for Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome (NCT NCT00272844)

Results Overview

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.

Recruitment status

COMPLETED

Study phase

PHASE1/PHASE2

Target enrollment

23 participants

Primary outcome timeframe

Every 3-6 months for an approximate median of 5 years

Results posted on

2017-10-20

Participant Flow

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 The study was completed and closed to enrollment here in June, 2010 and the IND was withdrawn in July, 2011.

Participant milestones

Participant milestones
Measure	Cholesterol Supplementation 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 Study STARTED	23
Overall Study COMPLETED	18
Overall Study NOT COMPLETED	5

Reasons for withdrawal

Reasons for withdrawal
Measure	Cholesterol Supplementation 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 Study Withdrawal by Subject	5

Baseline Characteristics

Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Cholesterol Supplementation n=23 Participants 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.
Age, Categorical <=18 years	18 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	5 Participants n=5 Participants
Age, Categorical >=65 years	0 Participants n=5 Participants
Sex: Female, Male Female	12 Participants n=5 Participants
Sex: Female, Male Male	11 Participants n=5 Participants
Region of Enrollment United States	23 participants n=5 Participants

PRIMARY outcome

Timeframe: 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.

Outcome measures

Outcome measures
Measure	Cholesterol Supplementation n=18 Participants 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	18 Participants

SECONDARY outcome

Timeframe: Every 3-6 months for an approximate median of 5 years

Growth response was defined as an increase in general health, growth, and behavior.

Outcome measures

Outcome measures
Measure	Cholesterol Supplementation n=18 Participants 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 Growth Responders	18 Participants

SECONDARY outcome

Timeframe: Every 3-6 months for an approximate median of 5 years

Improved neuropsychological development is defined as progressively achieving developmental milestones

Outcome measures

Outcome measures
Measure	Cholesterol Supplementation n=18 Participants 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 Participants With Improved Neuropsychological Development	18 Participants

Adverse Events

Cholesterol Supplementation

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Dr. Mira Irons

Boston Children's Hospital

Phone: 617-355-2449

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place