Clinical trials: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Study of Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form.
- Trial name
- NCT00001721
- Testing
- Cholesterol Suspension, CRH, Cholesterol
- Where
- United States
- Volunteers
- 130 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome
Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
Background: Neurocognitive disorders affect how the brain uses oxygen. They may affect mental development in children. These disorders can be studied with imaging scans that use radiation; however, these methods are not ideal for…
- Conditions
- Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
- Trial name
- NCT05642221
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Smith Lemli Opitz Syndrome, CHILD Syndrome
Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage.
- Conditions
- Smith Lemli Opitz Syndrome, CHILD Syndrome, Lathosterolosis, Desmosterolosis
- Trial name
- NCT05047354
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Patients with biochemically confirmed SLOS are being treated with cholesterol supplementation and antioxidant medication. They are carefully monitored with visits to clinic, laboratory testing including cholesterol and…
- Conditions
- Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy, Hearing Loss
- Trial name
- NCT01773278
- Testing
- Antioxidants, Cholesterol
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of Colorado, Denver
Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome and Cholic Acid
The purpose of this study is to determine whether dietary cholic acid therapy benefits people with Smith-Lemli-Opitz syndrome (SLOS) by leading to an increase in plasma cholesterol and reduction in harmful cholesterol precursors.
- Trial name
- NCT03720990
- Testing
- Cholic Acid
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- University of Nebraska
Smith-Lemli-Opitz Syndrome
SLOS: 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.
- Trial name
- NCT01434745
- Testing
- Simvastatin, Lactose
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Oregon Health and Science University
Smith-Lemli-Opitz Syndrome
Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome
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.
- Trial name
- STAIR-SLOS (NCT01356420)
- Testing
- Cholesterol supplementation
- Where
- 5 sites in United States
- Volunteers
- 21 people
- Sponsor
- Oregon Health and Science University
Autism, Asperger Disorder
Cholesterol in ASD: Characterization and Treatment
Background: Autism spectrum disorders (ASD) are developmental disabilities characterized by impaired social interaction and repetitive and/or stereotypical behaviors.
- Conditions
- Autism, Asperger Disorder, PDD-NOS
- Trial name
- NCT00965068
- Testing
- Cholesterol
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Smith-Lemli-Opitz Syndrome
Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
The purpose of this study is to determine whether supplementation with an oil-based cholesterol suspension will correct the biochemical abnormalities in cholesterol and its precursors in individuals with the Smith-Lemli-Opitz…
- Trial name
- NCT00272844
- Testing
- crystalline cholesterol oil-based suspension
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Boston Children's Hospital
Smith-Lemi-Opitz Syndrome
A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome
Background: Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that prevents the body from making enough cholesterol. People who have SLOS often need to take extra cholesterol, either in food or in supplements, for their…
- Trial name
- NCT01413425
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Smith-Lemli-Opitz Syndrome
Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
This 10-week study will evaluate and compare behavior changes in children with Smith-Lemli-Opitz syndrome (SLOS) who are taking cholesterol supplementation versus those who are not on cholesterol supplementation.
- Trial name
- NCT00114634
- Testing
- Egg yolk preparation with cholesterol, Egg substitute, without cholesterol
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Syndromic Ichthyoses, CHILD Syndrome
Novel Treatment for Syndromic Ichthyoses
This is an open label-pilot study to assess the efficacy and safety of a novel cholesterol-lovastatin topical solution in children with rare syndromic ichthyoses.
- Conditions
- Syndromic Ichthyoses, CHILD Syndrome, Smith Lemli Opitz Syndrome, Conradi Syndrome
- Trial name
- NCT01110642
- Testing
- Lovastatin
- Sponsor
- Northwestern University
Smith-Lemli-Opitz Syndrome
Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
This study will evaluate the safety and effectiveness of simvastatin in treating children with Smith-Lemli-Opitz syndrome (SLOS).
- Trial name
- NCT00064792
- Testing
- Simvastatin Susp., OraPlus
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Forbes Porter, M.D.
Smith-Lemli-Opitz Syndrome
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations.
- Trial name
- NCT00017732
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Smith-Lemli-Opitz Syndrome, Pregnancy
Prenatal Screening For Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome (SLOS) is a genetic condition that causes mental retardation and other birth defects. This study will evaluate a new prenatal screening test for SLOS.
- Trial name
- NCT00070850
- Where
- United States
- Volunteers
- 1,800 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Smith-Lemli-Opitz Syndrome
Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
OBJECTIVES: I. Examine the intestinal absorption of dietary cholesterol in patients with Smith-Lemli-Opitz syndrome. II. Measure the effect of dietary cholesterol on plasma sterol composition. III.
- Trial name
- NCT00004347
- Testing
- diet
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Center for Research Resources (NCRR)