Smith-Lemli-Opitz SyndromeSTAIR-SLOSNCT01356420
Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome
A study testing Cholesterol supplementation in people with Smith-Lemli-Opitz Syndrome, run by Oregon Health and Science University at 5 sites in United States.
Trial summary
The purpose of this study is to learn about Smith-Lemli-Opitz Syndrome (SLOS). SLOS is an inherited condition that is caused by the body not making an enzyme as it should. The body needs the enzyme to help make cholesterol. Read more about this study
- Who is it for?
- Ages Up to 85 years
- Conditions the study is for
- Smith-Lemli-Opitz Syndrome
- What is being tested?
- Cholesterol supplementation
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 21 participants
- Where
- 5 sitesUnited States
- Study dates
- Jan 2011to Dec 2015
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 Up to 85 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Confirmed diagnosis of Smith-Lemli-Opitz Syndrome (SLOS)
- Males and females of all ages
- Willing and able to travel to OHSU or another STAIR site
Who cannot join
- Subject does not have Smith-Lemli-Opitz Syndrome (SLOS)
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
Pdgen, Nichd, Nih, Dhhs
Bethesda, Maryland, 20892
Cincinnati Children'S Hospital Medical Center
Cincinnati, Ohio, 45229
University of Nebraska Medical Center
Omaha, Nebraska, 68198
Children'S Hospital of Pittsburgh of Upmc
Pittsburgh, Pennsylvania, 15213
Oregon Health and Science University
Portland, Oregon, 97239
About this study
Official title: Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
The purpose of this study is to learn about Smith-Lemli-Opitz Syndrome (SLOS). SLOS is an inherited condition that is caused by the body not making an enzyme as it should. The body needs the enzyme to help make cholesterol. SLOS can cause many health problems including slow growth and development, eating disorders, sleep disorders, behavior disorders, and eye diseases. Severe SLOS leads to birth defects and mental retardation and in many cases early death. The investigators plan to measure cholesterol and other sterol levels, perform clinical observations, whole body testing and imaging (brain MRIs), to learn more about the disease and its progression, differences in the clinical features among individuals with SLOS, and look at the effect of cholesterol supplementation in this condition.
The study is an interventional study to characterize disease progression and correlations between clinical, biochemical and physiological features of the disease. The main hypothesis is that dietary cholesterol supplementation does not improve features of SLOS related to the brain (e.g. IQ, behavior).
Read the detailed description
Smith-Lemli-Opitz syndrome (SLOS) is a disorder of cholesterol synthesis, or production. It is caused by mutations in the DHCR7 gene which encodes for 7-dehydrocholesterol- Δ7-reductase, an enzyme necessary for the production of cholesterol in the body. Affected individuals exhibit multiple malformations and mental retardation. The features of SLOS are thought to be primarily related to cholesterol deficiency and accumulation of cholesterol precursors. However, the clinical phenotype is not well characterized, the biochemical pathogenesis is incompletely understood, and there is no proven therapy for this devastating condition. Thus our primary objective is to better define the clinical and biochemical phenotypes of the disease using a natural history study design. The study will contribute to creating a comprehensive SLOS patient registry, identify biomarkers that can be used for diagnostic testing, screening and outcome measures in future therapeutic trials. All patients with SLOS receive dietary cholesterol supplementation with the hope that cholesterol supplementation will improve the clinical manifestation of the disease. However, there is no evidence supporting a clinical benefit of cholesterol supplementation. Thus a secondary objective of the study is to determine if cholesterol intake correlates with changes in whole body cholesterol homeostasis and clinical end-points.
- Conditions
- Smith-Lemli-Opitz Syndrome
- Being tested
- Cholesterol supplementation
- Keywords
- SLOS
- 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.
Cholesterol supplementationDietary supplement
Cholesterol supplementation may be achieved with SLOesterol instead of or in combination with egg yolk. SLOesterol is a powder formulation that contains cholesterol and natural emulsifier. It is considered a medical food developed by Solace Nutrition and available by prescription only.
| Study group | Role | What they receive |
|---|---|---|
| Cholesterol supplementation | Experimental | All new subjects will come to their first visit with an least 3 weeks of stable cholesterol intake. Typically and preferably this will include egg yolk as cholesterol supplement, but in some instances e.g. intolerance to egg yolk it may include a new encapsulated cholesterol preparation, Sloesterol. Receives: Dietary Supplement: Cholesterol supplementation |
What is being measured
The primary outcome is the main question the study is designed to answer.
To define the rate of progression of clinical and biochemical measures in patients with Smith Lemli-Opitz syndrome receiving dietary cholesterol supplementation.
This study will measure changes in whole body cholesterol pool size, 24S, cholesterol absorption and synthesis in relation with cholesterol intake and changes in clincal end-points.
Measured: Once per year at annual study visit
Secondary outcomes (4)
Correlate biochemical and clinical phenotypes
To correlate biochemical and clinical phenotypes in SLOS subjects given dietary cholesterol with changes in whole body cholesterol pool size, and with its major determinants (cholesterol synthesis, absorption and intake).
Measured: Once per year at annual study visit
Identify clinical or biochemical markers for future therapeutic trials.
To identify clinical or biochemical markers that can be used as outcome measures in a future therapeutic trial.
Measured: Once per year at annual study visit
Identify a biochemical marker that can be used for diagnostic testing or screening.
To identify a biochemical marker that can be used for diagnostic testing or screening
Measured: Once per year at annual study visit
Develop a registry and repository of biomaterials of SLOS patients
To develop a registry of well characterized SLOS patients and to maintain a repository of biomaterials corresponding to these patients
Measured: each subject will be enrolled in the registry at the baseline/initial visit, if they choose to participate in this portion of the study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2011 (estimated)
- Study startJan 2011
- Primary completionDec 2015
- Study completionDec 2015
Why it stopped: NICHD cut funding
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 21 participants (actual)
Sponsor and investigators
- Lead sponsor
- Oregon Health and Science University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Jean-Baptiste Roullet, Oregon Health and Science University
- Investigators
- Robert Steiner, MD, Principal investigator, University of Wisconsin, Madison
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01356420
- Sponsor's protocol ID
- STAIR 7001
- Acronym
- STAIR-SLOS
- Status last verified
- May 2019
- First submitted
- 11 May 2011
- Last updated
- 23 May 2019
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 23 May 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
- ClinicalTrials.gov ID
- NCT01356420
- Acronym / sponsor ID
- STAIR-SLOS / STAIR 7001
- Conditions
- Smith-Lemli-Opitz Syndrome
- Keywords
- SLOS
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: NICHD cut funding
- Enrolment
- 21 participants (actual)
- Lead sponsor
- Oregon Health and Science UniversityUniversity, hospital or other
- Study start
- Jan 2011
- Primary completion
- Dec 2015 (actual)
- Study completion
- Dec 2015 (actual)
- First posted
- 19 May 2011 (estimated)
- Results
- Not posted in the source record
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 learn about Smith-Lemli-Opitz Syndrome (SLOS). SLOS is an inherited condition that is caused by the body not making an enzyme as it should. The body needs the enzyme to help make cholesterol. SLOS can cause many health problems including slow growth and development, eating disorders, sleep disorders, behavior disorders, and eye diseases. Severe SLOS leads to birth defects and mental retardation and in many cases early death. The investigators plan to measure cholesterol and other sterol levels, perform clinical observations, whole body testing and imaging (brain MRIs), to learn more about the disease and its progression, differences in the clinical features among individuals with SLOS, and look at the effect of cholesterol supplementation in this condition.
The study is an interventional study to characterize disease progression and correlations between clinical, biochemical and physiological features of the disease. The main hypothesis is that dietary cholesterol supplementation does not improve features of SLOS related to the brain (e.g. IQ, behavior).
Detailed description
Smith-Lemli-Opitz syndrome (SLOS) is a disorder of cholesterol synthesis, or production. It is caused by mutations in the DHCR7 gene which encodes for 7-dehydrocholesterol- Δ7-reductase, an enzyme necessary for the production of cholesterol in the body. Affected individuals exhibit multiple malformations and mental retardation. The features of SLOS are thought to be primarily related to cholesterol deficiency and accumulation of cholesterol precursors. However, the clinical phenotype is not well characterized, the biochemical pathogenesis is incompletely understood, and there is no proven therapy for this devastating condition. Thus our primary objective is to better define the clinical and biochemical phenotypes of the disease using a natural history study design. The study will contribute to creating a comprehensive SLOS patient registry, identify biomarkers that can be used for diagnostic testing, screening and outcome measures in future therapeutic trials. All patients with SLOS receive dietary cholesterol supplementation with the hope that cholesterol supplementation will improve the clinical manifestation of the disease. However, there is no evidence supporting a clinical benefit of cholesterol supplementation. Thus a secondary objective of the study is to determine if cholesterol intake correlates with changes in whole body cholesterol homeostasis and clinical end-points.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cholesterol supplementation | Experimental | Dietary Supplement: Cholesterol supplementationAll new subjects will come to their first visit with an least 3 weeks of stable cholesterol intake. Typically and preferably this will include egg yolk as cholesterol supplement, but in some instances e.g. intolerance to egg yolk it may include a new encapsulated cholesterol preparation, Sloesterol. |
Who may qualify
- Ages
- Up to 85 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- Confirmed diagnosis of Smith-Lemli-Opitz Syndrome (SLOS)
- Males and females of all ages
- Willing and able to travel to OHSU or another STAIR site
Key exclusion criteria (1 listed)
- Subject does not have Smith-Lemli-Opitz Syndrome (SLOS)
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 |
|---|---|---|
| Cholesterol supplementationCholesterol supplementation may be achieved with SLOesterol instead of or in combination with egg yolk. SLOesterol is a powder formulation that contains cholesterol and natural emulsifier. It is considered a medical food developed by Solace Nutrition and available by prescription only. | Dietary supplement | Cholesterol supplementation |
Primary outcome
To define the rate of progression of clinical and biochemical measures in patients with Smith Lemli-Opitz syndrome receiving dietary cholesterol supplementation.
Time frame: Once per year at annual study visit
This study will measure changes in whole body cholesterol pool size, 24S, cholesterol absorption and synthesis in relation with cholesterol intake and changes in clincal end-points.
4 secondary outcomes
Correlate biochemical and clinical phenotypes
Time frame: Once per year at annual study visit
Identify clinical or biochemical markers for future therapeutic trials.
Time frame: Once per year at annual study visit
Identify a biochemical marker that can be used for diagnostic testing or screening.
Time frame: Once per year at annual study visit
Develop a registry and repository of biomaterials of SLOS patients
Time frame: each subject will be enrolled in the registry at the baseline/initial visit, if they choose to participate in this portion of the study
Results and safety
The study was stopped early (reason given: NICHD cut funding). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 May 2019.
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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.
Robert Steiner, MD principal investigator
University of Wisconsin, Madison
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Cholesterol supplementation in people with Smith-Lemli-Opitz Syndrome, run by Oregon Health and Science University at 5 sites 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 1 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 23 May 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites 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. 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?
The study was stopped early (reason given: NICHD cut funding). Results are not available in the source record.
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?
To define the rate of progression of clinical and biochemical measures in patients with Smith Lemli-Opitz syndrome receiving dietary cholesterol supplementation. (time frame: Once per year at annual study visit). 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 23 May 2019.