10 completed, 2 terminated, 2 unknown, 2 withdrawn. 8 Phase 2, 3 Phase 1, 2 Not applicable.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 8 | Completed 5, Unknown 2, Withdrawn 1 |
| Phase 1 | 3 | Completed 3 |
| Not applicable | 2 | Terminated 2 |
Follow Smith-Lemli-Opitz Syndrome: new trials by email Literature Review of Smith-Lemli-Opitz Syndrome trials Research Report on Smith-Lemli-Opitz Syndrome
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome | Completed | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 73 | 2023-01-23 | 2026-10-13 | |
| Baby Detect : Genomic Newborn Screening Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1 | Completed | Centre Hospitalier Universitaire de Liege | 6824 | 2022-09-01 | 2025-08-12 | |
| Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism Smith Lemli Opitz Syndrome, CHILD Syndrome | Recruiting | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 250 | 2021-06-23 | 2026-08-17 | |
| Smith-Lemli-Opitz Syndrome and Cholic Acid Cholic Acid - Smith-Lemli-Opitz Syndrome | Phase 1 / Phase 2 | Completed | University of Nebraska | 12 | 2021-03-27 | 2024-04-30 |
| Early Check: Expanded Screening in Newborns Confirmatory Testing - Spinal Muscular Atrophy, Fragile X Syndrome | Active not recruiting | RTI International | 30000 | 2018-10-15 | 2026-07-01 | |
| SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Simvastatin, Lactose - Smith-Lemli-Opitz Syndrome | Not applicable | Terminated | Oregon Health and Science University | 1 | 2011-09-01 | 2019-10-01 |
| Novel Treatment for Syndromic Ichthyoses Lovastatin - Syndromic Ichthyoses, CHILD Syndrome | Phase 2 | Withdrawn | Northwestern University | 2011-07-01 | 2015-05-19 | |
| A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Smith-Lemi-Opitz Syndrome | Withdrawn | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 2011-06-29 | 2017-07-02 | ||
| Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Cholesterol supplementation - Smith-Lemli-Opitz Syndrome | Not applicable | Terminated | Oregon Health and Science University | 21 | 2011-01-01 | 2019-05-23 |
| Cholesterol in ASD: Characterization and Treatment Cholesterol - Autism, Asperger Disorder | Phase 1 / Phase 2 | Completed | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 44 | 2009-07-28 | 2018-07-05 |
| Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Antioxidants, Cholesterol - Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy | Phase 2 | Unknown | University of Colorado, Denver | 100 | 2008-12-01 | 2024-05-08 |
| Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Egg yolk preparation with cholesterol, Egg substitute, without cholesterol - Smith-Lemli-Opitz Syndrome | Phase 2 | Completed | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 13 | 2005-06-01 | 2016-01-29 |
| Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Simvastatin Susp., OraPlus - Smith-Lemli-Opitz Syndrome | Phase 2 | Completed | Forbes Porter, M.D. | 23 | 2003-07-01 | 2014-06-06 |
| Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Smith-Lemli-Opitz Syndrome | Completed | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 2000 | 2001-06-01 | 2008-03-04 | |
| Prenatal Screening For Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome, Pregnancy | Completed | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 1800 | 2001-04-01 | 2007-07-02 | |
| Study of Smith-Lemli-Opitz Syndrome Cholesterol Suspension, CRH, Cholesterol - Smith-Lemli-Opitz Syndrome | Completed | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 130 | 1998-09-13 | 2026-10-07 | |
| Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome crystalline cholesterol oil-based suspension - Smith-Lemli-Opitz Syndrome | Phase 1 / Phase 2 | Completed | Boston Children's Hospital | 23 | 1998-01-01 | 2017-10-20 |
| Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome diet - Smith-Lemli-Opitz Syndrome | Phase 2 | Unknown | National Center for Research Resources (NCRR) | 5 | 1995-11-01 | 2005-06-24 |
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (2) · Acidemia, isovaleric (2) · Anemia, Sickle Cell (2) · Argininosuccinic Aciduria (2) · Ataxia with vitamin E deficiency (2) · Basal ganglia disease, biotin-responsive (2) · Beta ketothiolase deficiency (2) · Biotinidase Deficiency (2) · Brown-Vialetto-Van Laere syndrome (2) · Carbamoyl-Phosphate Synthase I Deficiency Disease (2) · Carnitine palmitoyl transferase 1A deficiency (2) · Carnitine palmitoyl transferase 2 deficiency (2) · Carnitine-Acylcarnitine Translocase Deficiency (2) · Citrullinemia (2)
Abnormalities, Multiple (18) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (18) · Dyslipidemias (18) · Lipid Metabolism Disorders (18) · Lipid Metabolism, Inborn Errors (18) · Metabolic Diseases (18) · Metabolism, Inborn Errors (18) · Nutritional and Metabolic Diseases (18) · Steroid Metabolism, Inborn Errors (18) · Congenital Abnormalities (17) · Genetic Diseases, Inborn (17) · Nervous System Diseases (6) · Pathological Conditions, Signs and Symptoms (6) · Mental Disorders (5) · Neurologic Manifestations (5)
Cholesterol (4) · Antioxidants (1) · Cholic Acid (1) · Diet (1) · Eggs (1) · Lactose (1) · Lovastatin (1) · Simvastatin (1)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (8) · Oregon Health and Science University (2) · Boston Children's Hospital (1) · Centre Hospitalier Universitaire de Liege (1) · Forbes Porter, M.D. (1) · National Center for Research Resources (NCRR) (1) · Northwestern University (1) · RTI International (1) · University of Colorado, Denver (1) · University of Nebraska (1)
United States (15) · Belgium (1)
Forbes D Porter, M.D. (6) · Ellen R Elias, MD (2) · Amy S Paller, MD (1) · Curt Scharfe, MD, PhD (1) · Forbes D Porter, MD (1) · James E. Haddow, M.D. (1) · Jean-Baptiste Roullet, PhD (1) · Laurent Servais (1) · Mira Irons, M.D. (1) · Robert Steiner, MD (1) · William B Rizzo, MD (1) · William Connor (1)
PMID 27053961, PMID 39271956, PMID 14605787, PMID 14662594, PMID 31315600, PMID 35142618, PMID 36721240, PMID 8209913, PMID 9024564, PMID 9024565
R01HL073980 (1)