Trial Outcomes & Findings for Smith-Lemli-Opitz Syndrome and Cholic Acid (NCT NCT03720990)

NCT ID: NCT03720990

Last Updated: 2024-04-30

Results Overview

Plasma cholesterol will be measured. Response to cholic acid treatment will consist of a change in plasma cholesterol.

Recruitment status

COMPLETED

Study phase

PHASE1/PHASE2

Target enrollment

12 participants

Primary outcome timeframe

8 weeks

Results posted on

2024-04-30

Participant Flow

Recruitment conducted at Children's Hospital and Medical Center (CHMC), Omaha, NE and Childrens Hospital Colorado (CHCO).

Participant milestones

Participant milestones
Measure
Cholic Acid
Participants will be treated with cholic acid 10 mg/kg body weight. Cholic Acid: Participants will be treated with cholic acid for 8 weeks
Overall Study
STARTED
12
Overall Study
COMPLETED
12
Overall Study
NOT COMPLETED
0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Smith-Lemli-Opitz Syndrome and Cholic Acid

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
Cholic Acid
n=12 plasma
Participants will be treated with cholic acid 10 mg/kg body weight. Cholic Acid: Participants will be treated with cholic acid for 8 weeks
Age, Categorical
<=18 years
10 Participants
n=99 Participants
Age, Categorical
Between 18 and 65 years
2 Participants
n=99 Participants
Age, Categorical
>=65 years
0 Participants
n=99 Participants
Age, Continuous
9.5 years
n=99 Participants
Sex: Female, Male
Female
2 Participants
n=99 Participants
Sex: Female, Male
Male
10 Participants
n=99 Participants
Race (NIH/OMB)
American Indian or Alaska Native
0 Participants
n=99 Participants
Race (NIH/OMB)
Asian
0 Participants
n=99 Participants
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
0 Participants
n=99 Participants
Race (NIH/OMB)
Black or African American
0 Participants
n=99 Participants
Race (NIH/OMB)
White
12 Participants
n=99 Participants
Race (NIH/OMB)
More than one race
0 Participants
n=99 Participants
Race (NIH/OMB)
Unknown or Not Reported
0 Participants
n=99 Participants
Region of Enrollment
United States
12 Participants
n=99 Participants
Cholesterol
12 Participants
n=99 Participants

PRIMARY outcome

Timeframe: 8 weeks

Plasma cholesterol will be measured. Response to cholic acid treatment will consist of a change in plasma cholesterol.

Outcome measures

Outcome measures
Measure
Cholic Acid
n=12 Participants
Participants will be treated with cholic acid 10 mg/kg body weight. Cholic Acid: Participants will be treated with cholic acid for 8 weeks
Change in Plasma Cholesterol
37.8 change (%) compared to baseline
Standard Deviation 22.4

Adverse Events

Cholic Acid

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

William Rizzo

University of Nebraska Medical Center

Phone: 402-559-2560

Results disclosure agreements

  • Principal investigator is a sponsor employee
  • Publication restrictions are in place