Smith-Lemli-Opitz SyndromeNCT01434745
SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation
A study testing Simvastatin and Lactose in people with Smith-Lemli-Opitz Syndrome, run by Oregon Health and Science University at 1 site in United States.
Trial summary
The purpose of this study is to determine if simvastatin improves development and behavior in patients with Smith Lemli-Opitz syndrome (SLOS) receiving dietary cholesterol supplementation. Read more about this study
- Who is it for?
- Ages 1 year to 89 years
- Conditions the study is for
- Smith-Lemli-Opitz Syndrome
- What is being tested?
- Simvastatin and Lactose
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2011to Oct 2014
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 89 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Male or female over 1 years old
- Subject has confirmed diagnosis of Smith-Lemli-Opitz Syndrome
- Subject is currently receiving cholesterol supplementation
Who cannot join
- Subjects too ill to travel to the study site
- Subjects who are unable to safely undergo study procedures
- Pregnant women
Trial locations and contacts
1 site in 1 country.
United States1 site
Oregon Health and Science University
Portland, Oregon, 97239
About this study
Official title: Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation
The purpose of this study is to determine if simvastatin improves development and behavior in patients with Smith Lemli-Opitz syndrome (SLOS) receiving dietary cholesterol supplementation.
Read the detailed description
Patients with SLOS receiving dietary cholesterol supplementation are given simvastatin, a drug that decreases the activity/expression of HMG-CoA reductase, an enzyme that controls the first step of the cholesterol synthesis pathway, reduces the accumulation of toxic 7-dehydrocholesterol (immediate metabolic precursor of cholesterol) and improve neurocognitive and behavioral outcomes.
- Conditions
- Smith-Lemli-Opitz Syndrome
- Being tested
- Simvastatin, Lactose
- Keywords
- SLOS, Cholesterol Supplementation, Simvastatin
- Medical subject headings
- Smith-Lemli-Opitz Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SimvastatinDrug
Also called Zocor, Flolipid
Simvastatin will be administered as a powder mixed with lactose at the dose of 0.5 mg/kg/day
LactoseDietary supplement
Lactose will be administered in a capsule formula.
| Study group | Role | What they receive |
|---|---|---|
| Placebo | Placebo comparator | placebo Receives: Dietary Supplement: Lactose |
| Simvastatin | Experimental | 0.5 mg/kg body weight/day Receives: Drug: Simvastatin |
What is being measured
The primary outcome is the main question the study is designed to answer.
Development Quotient (DQ)
neurocognitive assessment measured with Mullen Scales of Learning
Measured: through study completion, an average of 2 per year
Secondary outcomes (6)
Whole Body Cholesterol Pool Size, Synthesis & Absorption Using Stable Isotope Testing
administration of cholesterol and water labeled with stable isotope followed by measurement overtime in blood concentrations
Measured: end of treatment, an average of 1 per year
Plasma Marker of Sterol Metabolism
Blood cholesterol to 7-dehydrocholesterol ratio
Measured: through study completion, an average of 2 per year
ADC
Apparent diffusion coefficient measured by brain diffusion tensor imaging (DTI)
Measured: end of treatment, an average of 1 per year
MVA
urinary mevalonate excretion
Measured: through study completion, an average of 2 per year
MRS Lipids
Brain magnetic resonance spectroscopy
Measured: end of treatment, an average of 1 per year
FA
Fractional anisotropy as measured by brain diffusion tensor imaging (DTI)
Measured: end of treatment, an average of 1 per year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Sep 2011 (estimated)
- Study startSep 2011
- Primary completionOct 2014
- Study completionOct 2014
Why it stopped: poor enrollment (only one subject enrolled)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Smith-Lemli-Opitz SyndromeStudies of the same condition, open and under way.
- More trials run by Oregon Health and Science UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Single blind
- Who is masked
- Participant
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Oregon Health and Science University
- Sponsor type
- University, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Principal investigator, Jean-Baptiste Roullet, Oregon Health and Science University
- Investigators
- Jean-Baptiste Roullet, PhD, Principal investigator, Washington State University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01434745
- Sponsor's protocol ID
- R01HL073980
- Other IDs
- R01HL073980
- Status last verified
- Sep 2019
- First submitted
- 7 Sep 2011
- Last updated
- 1 Oct 2019
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 1 Oct 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation
- ClinicalTrials.gov ID
- NCT01434745
- Acronym / sponsor ID
- R01HL073980
- Conditions
- Smith-Lemli-Opitz Syndrome
- Keywords
- SLOS, Cholesterol Supplementation, Simvastatin
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: poor enrollment (only one subject enrolled)
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Oregon Health and Science UniversityUniversity, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- Sep 2011
- Primary completion
- Oct 2014 (actual)
- Study completion
- Oct 2014 (actual)
- First posted
- 15 Sep 2011 (estimated)
- Results
- Posted 1 Oct 2019
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to determine if simvastatin improves development and behavior in patients with Smith Lemli-Opitz syndrome (SLOS) receiving dietary cholesterol supplementation.
Detailed description
Patients with SLOS receiving dietary cholesterol supplementation are given simvastatin, a drug that decreases the activity/expression of HMG-CoA reductase, an enzyme that controls the first step of the cholesterol synthesis pathway, reduces the accumulation of toxic 7-dehydrocholesterol (immediate metabolic precursor of cholesterol) and improve neurocognitive and behavioral outcomes.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Single blind (participant)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Placebo | Placebo comparator | Dietary Supplement: Lactoseplacebo |
| Simvastatin | Experimental | Drug: Simvastatin0.5 mg/kg body weight/day |
Who may qualify
- Ages
- 1 year to 89 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- Male or female over 1 years old
- Subject has confirmed diagnosis of Smith-Lemli-Opitz Syndrome
- Subject is currently receiving cholesterol supplementation
Key exclusion criteria (3 listed)
- Subjects too ill to travel to the study site
- Subjects who are unable to safely undergo study procedures
- Pregnant women
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SimvastatinAlso: Zocor, FlolipidSimvastatin will be administered as a powder mixed with lactose at the dose of 0.5 mg/kg/day | Drug | Simvastatin |
| LactoseLactose will be administered in a capsule formula. | Dietary supplement | Placebo |
Primary outcome
Development Quotient (DQ)
Time frame: through study completion, an average of 2 per year
neurocognitive assessment measured with Mullen Scales of Learning
6 secondary outcomes
Whole Body Cholesterol Pool Size, Synthesis & Absorption Using Stable Isotope Testing
Time frame: end of treatment, an average of 1 per year
Plasma Marker of Sterol Metabolism
Time frame: through study completion, an average of 2 per year
ADC
Time frame: end of treatment, an average of 1 per year
MVA
Time frame: through study completion, an average of 2 per year
MRS Lipids
Time frame: end of treatment, an average of 1 per year
FA
Time frame: end of treatment, an average of 1 per year
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Oct 2019.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Related trials for Smith-Lemli-Opitz Syndrome
RecruitingObservational study
Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
Smith Lemli Opitz Syndrome, CHILD Syndrome
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jean-Baptiste Roullet, PhD principal investigator
Washington State University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Simvastatin and Lactose in people with Smith-Lemli-Opitz Syndrome, run by Oregon Health and Science University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 1 Oct 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 1 Oct 2019). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Development Quotient (DQ) (time frame: through study completion, an average of 2 per year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Oct 2019; AzTrials last refreshed its copy on 8 Nov 2026.