310. 先天異常症候群
［臨床試験数：10，薬物数：18（DrugBank：10），標的遺伝子数：3，標的パスウェイ数：7］
Searched query = "Congenital anomalies syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT03720990 (ClinicalTrials.gov) | January 1, 2021 | 24/10/2018 | Smith-Lemli-Opitz Syndrome and Cholic Acid | Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation | Smith-Lemli-Opitz Syndrome | Drug: Cholic Acid | University of Nebraska | University of Colorado, Denver;Children's Hospital Medical Center, Cincinnati;University of Pittsburgh | Not yet recruiting | 2 Years | 25 Years | All | 15 | Phase 1;Phase 2 | United States |
| 2 | NCT04381897 (ClinicalTrials.gov) | December 1, 2020 | 6/5/2020 | Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome | Use of N-Acetylcysteine (NAC) in the Treatment of Repetitive Behaviors (RB) and Self-Injurious Behaviors (SIB) in Cornelia de Lange Syndrome: A Randomized Double-Blind Placebo-Controlled Pilot Study | Cornelia de Lange Syndrome | Drug: N-acetyl cysteine;Other: Placebo | Johns Hopkins University | Cornelia de Lange Syndrome Foundation | Not yet recruiting | 13 Years | 35 Years | All | 10 | Phase 2 | United States |
| 3 | ChiCTR2000035477 | 2020-08-11 | 2020-08-12 | Clinical study on the diagnosis of Smith Lemli Opitz syndrome by GC-MS | Clinical study on the diagnosis of Smith Lemli Opitz syndrome by GC-MS | Smith-Lemli-Opitz syndrome | Gold Standard:Quantitative detection of 7-DHC;Index test:Detection of chol and 7-DHC in clinical samples by GC-MS; | Obstetrics and Gynecology Hospital Affiliated to Fudan University | NULL | Pending | 0 | 1 | Both | Target condition:110;Difficult condition:0 | China | |
| 4 | NCT01434745 (ClinicalTrials.gov) | September 2011 | 7/9/2011 | SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation | Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation | Smith-Lemli-Opitz Syndrome | Drug: Simvastatin;Dietary Supplement: Lactose | Oregon Health and Science University | National Heart, Lung, and Blood Institute (NHLBI) | Terminated | 1 Year | 89 Years | All | 1 | N/A | United States |
| 5 | NCT01110642 (ClinicalTrials.gov) | July 2011 | 22/4/2010 | Novel Treatment for Syndromic Ichthyoses | Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses | Syndromic Ichthyoses;CHILD Syndrome;Smith Lemli Opitz Syndrome;Conradi Syndrome | Drug: Lovastatin | Northwestern University | NULL | Withdrawn | 1 Year | N/A | Both | 0 | Phase 2 | United States |
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 6 | NCT01356420 (ClinicalTrials.gov) | January 2011 | 11/5/2011 | Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation | Smith-Lemli-Opitz Syndrome | Dietary Supplement: Cholesterol supplementation | Oregon Health and Science University | NULL | Terminated | N/A | 85 Years | All | 21 | N/A | United States |
| 7 | NCT01773278 (ClinicalTrials.gov) | December 2008 | 3/12/2012 | Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) | Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) | Smith-Lemli-Opitz Syndrome;Cone-Rod Dystrophy;Hearing Loss | Drug: Antioxidants;Drug: Cholesterol | University of Colorado, Denver | NULL | Recruiting | N/A | 65 Years | All | 100 | Phase 2 | United States |
| 8 | NCT00114634 (ClinicalTrials.gov) | June 2005 | 15/6/2005 | Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome | Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz Syndrome | Dietary Supplement: Egg yolk preparation with cholesterol;Dietary Supplement: Egg substitute, without cholesterol | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | NULL | Completed | 4 Years | 17 Years | All | 13 | Phase 2 | United States |
| 9 | NCT00064792 (ClinicalTrials.gov) | July 2003 | 11/7/2003 | Simvastatin Therapy in Smith-Lemli-Opitz Syndrome | Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz Syndrome | Drug: Simvastatin Susp.;Drug: OraPlus | Forbes Porter, M.D. | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Completed | 4 Years | 18 Years | All | 23 | Phase 2 | United States |
| 10 | NCT00272844 (ClinicalTrials.gov) | January 1998 | 4/1/2006 | Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome | Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz Syndrome | Drug: crystalline cholesterol oil-based suspension | Boston Children’s Hospital | NULL | Completed | N/A | N/A | All | 23 | Phase 1;Phase 2 | United States |