310. 先天異常症候群 ［臨床試験数：8，薬物数：13（DrugBank：6），標的遺伝子数：2，標的パスウェイ数：4］
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 of the data. Export date: 11/20/2019, 11/21/2019. Trials are sorted by Date_enrolment from most recent to oldest in the table.
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT03720990 | November 1, 2019 | 14 October 2019 | 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 recruiting | 2 Years | 25 Years | All | 15 | Phase 1/Phase 2 | United States |
| 2 | NCT01434745 | September 2011 | 30 September 2019 | 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) | Not recruiting | 1 Year | 89 Years | All | 1 | N/A | United States |
| 3 | NCT01110642 | July 2011 | 25 May 2015 | 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 | Not recruiting | 1 Year | N/A | Both | 0 | Phase 2 | United States | |
| 4 | NCT01356420 | January 2011 | 3 June 2019 | 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 | Not recruiting | N/A | 85 Years | All | 21 | N/A | United States | |
| 5 | NCT01773278 | December 2008 | 14 October 2019 | 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 | Recruiting | N/A | 65 Years | All | 100 | Phase 2 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 6 | NCT00114634 | June 2005 | 19 October 2017 | 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) | Not recruiting | 4 Years | 17 Years | All | 13 | Phase 2 | United States | |
| 7 | NCT00064792 | July 2003 | 19 October 2017 | 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) | Not recruiting | 4 Years | 18 Years | All | 23 | Phase 2 | United States |
| 8 | NCT00272844 | January 1998 | 16 December 2017 | 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 | Not recruiting | N/A | N/A | All | 23 | Phase 1/Phase 2 | United States |