Clinical Trials Logo

Clinical Trial Details — Status: Terminated

Administrative data

NCT number NCT01356420
Other study ID # STAIR 7001
Secondary ID
Status Terminated
Phase N/A
First received
Last updated
Start date January 2011
Est. completion date December 2015

Study information

Verified date May 2019
Source Oregon Health and Science University
Contact n/a
Is FDA regulated No
Health authority
Study type Interventional

Clinical 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. 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).


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.


Recruitment information / eligibility

Status Terminated
Enrollment 21
Est. completion date December 2015
Est. primary completion date December 2015
Accepts healthy volunteers No
Gender All
Age group N/A to 85 Years
Eligibility Inclusion Criteria:

- 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

Exclusion Criteria:

- Subject does not have Smith-Lemli-Opitz Syndrome (SLOS)

Study Design


Intervention

Dietary Supplement:
Cholesterol supplementation
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.

Locations

Country Name City State
United States Pdgen, Nichd, Nih, Dhhs Bethesda Maryland
United States Cincinnati Children'S Hospital Medical Center Cincinnati Ohio
United States University of Nebraska Medical Center Omaha Nebraska
United States Children'S Hospital of Pittsburgh of Upmc Pittsburgh Pennsylvania
United States Oregon Health and Science University Portland Oregon

Sponsors (1)

Lead Sponsor Collaborator
Oregon Health and Science University

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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. Once per year at annual study visit
Secondary 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). Once per year at annual study visit
Secondary 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. Once per year at annual study visit
Secondary 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 Once per year at annual study visit
Secondary 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 each subject will be enrolled in the registry at the baseline/initial visit, if they choose to participate in this portion of the study
See also
  Status Clinical Trial Phase
Terminated NCT01434745 - SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation N/A
Completed NCT00001721 - Study of Smith-Lemli-Opitz Syndrome
Recruiting NCT05687474 - Baby Detect : Genomic Newborn Screening
Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Recruiting NCT00004347 - Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Phase 2
Completed NCT03720990 - Smith-Lemli-Opitz Syndrome and Cholic Acid Phase 1/Phase 2
Completed NCT00114634 - Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Phase 2
Completed NCT00017732 - Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans N/A
Completed NCT00064792 - Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Phase 2
Recruiting NCT05642221 - Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
Completed NCT00272844 - Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Phase 1/Phase 2
Recruiting NCT01773278 - Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Phase 2
Completed NCT00070850 - Prenatal Screening For Smith-Lemli-Opitz Syndrome Phase 2