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Main
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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register. |
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Register:
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ClinicalTrials.gov |
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Last refreshed on:
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25 July 2023 |
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Main ID: |
NCT03720990 |
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Date of registration:
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24/10/2018 |
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Prospective Registration:
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Yes |
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Primary sponsor: |
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Public title:
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Smith-Lemli-Opitz Syndrome and Cholic Acid
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Scientific title:
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Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation |
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Date of first enrolment:
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March 27, 2021 |
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Target sample size:
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12 |
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Recruitment status: |
Active, not recruiting |
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URL:
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https://clinicaltrials.gov/ct2/show/NCT03720990 |
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Study type:
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Interventional |
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Study design:
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Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
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Phase:
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Phase 1/Phase 2
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Countries of recruitment
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United States
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Contacts
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Name:
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William B Rizzo, MD |
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Address:
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Telephone:
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Email:
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Affiliation:
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University of Nebraska |
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Name:
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Ellen R Elias, MD |
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Address:
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Telephone:
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Email:
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Affiliation:
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University of Colorado - Colorado Children's Hospital |
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Key inclusion & exclusion criteria
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Inclusion Criteria:
- Ages 2-25 years.
- Participants (or their parents/legally-authorized representative) must provide signed
informed consent.
- Assent must be obtained from those participants ages 7-17 years who are intellectually
capable of understanding this study.
- Diagnosis of SLOS based on clinical features and biochemical + genetic confirmation.
- Participants are capable of traveling to the STAIR study site.
- Fasting serum cholesterol =125 mg/dL on at least 2 specimens, each obtained at least 2
weeks apart during the Qualification Phase must be established before starting cholic
acid therapy.
- Clinically stable at the time of enrollment
- Participants must be on a constant dietary cholesterol intake for at least 3-months
prior to treatment with cholic acid.
- Participants must agree to make no changes in cholesterol supplementation during the
STAIR study.
- SLOS participants who are taking antioxidants will be included. Participants must
agree to make no changes in the antioxidant dose during this study.
- For females of childbearing age (who have begun menstruating), a negative pregnancy
test must be documented at the start of the study (week 0/ baseline) and at the end of
cholic acid administration (week 8).
Exclusion Criteria:
- Participants are unable to provide signed informed consent and/or verbal assent.
- Participants have an unstable clinical condition that would prevent completion of the
study. Medically unstable participants would include those with severe liver disease,
complex birth defects such as severe heart disease or renal dysplasia, those with
severe respiratory compromise requiring tracheostomy, or those who are not likely to
survive longer than 1 year.
- Participants are taking drugs, nutraceuticals, probiotics or other compounds that are
known or suspected to affect sterol metabolism.
- Participants have transaminase elevations (>3-fold above the reference range) at
baseline.
Age minimum:
2 Years
Age maximum:
25 Years
Gender:
All
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Health Condition(s) or Problem(s) studied
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Smith-Lemli-Opitz Syndrome
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Intervention(s)
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Drug: Cholic Acid
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Primary Outcome(s)
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Change in Serum Cholesterol and Cholesterol Metabolites
[Time Frame: From enrollment to end of 8 weeks on cholic acid treatment]
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Secondary ID(s)
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0464-18-FB
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Source(s) of Monetary Support
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Please refer to primary and secondary sponsors
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Results
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Results available:
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Date Posted:
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Date Completed:
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URL:
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