Clinical trials: Smith Lemli Opitz Syndrome
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
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
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
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, 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)
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
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)
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
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
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)
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
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
Diamond Blackfan Anemia
Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
The purpose of this study is to determine the safety and dosing of drug Sotatercept, as a subcutaneous injection, to stimulate production of red blood cell production. To be given every 28 days for up to four doses.
- Trial name
- ACE-011-DBA (NCT01464164)
- Testing
- Sotatercept, Sotatercept with prednisone boost
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Northwell Health
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
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
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)
Cowden's Disease, Cowden's Syndrome
Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations
The goal of this study is to examine the safety and treatment effects of everolimus in adults and children with PTEN Hamartoma Tumor Syndrome (PHTS) who experience social difficulties.
- Conditions
- Cowden's Disease, Cowden's Syndrome, Lhermitte-Duclos Disease, Cerebellum Dysplastic Gangliocytoma
- Trial name
- NCT07218575
- Testing
- Everolimus blinded oral capsules
- Where
- 3 sites in United States
- Volunteers
- 60 people
- Sponsor
- Boston Children's Hospital
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)
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
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