310. Congenital anomalies syndrome Clinical trials / Disease details


Clinical trials : 10 Drugs : 18 - (DrugBank : 10) / Drug target genes : 3 - Drug target pathways : 7

  
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT04381897
(ClinicalTrials.gov)
May 1, 20226/5/2020Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange SyndromeUse 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 StudyCornelia de Lange SyndromeDrug: N-acetyl cysteine;Other: PlaceboJohns Hopkins UniversityCornelia de Lange Syndrome FoundationNot yet recruiting13 Years35 YearsAll10Phase 2United States
2NCT03720990
(ClinicalTrials.gov)
March 27, 202124/10/2018Smith-Lemli-Opitz Syndrome and Cholic AcidSmith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid SupplementationSmith-Lemli-Opitz SyndromeDrug: Cholic AcidUniversity of NebraskaUniversity of Colorado, Denver;Children's Hospital Medical Center, Cincinnati;University of PittsburghRecruiting2 Years25 YearsAll15Phase 1/Phase 2United States
3ChiCTR2000035477
2020-08-112020-08-12Clinical study on the diagnosis of Smith Lemli Opitz syndrome by GC-MSClinical study on the diagnosis of Smith Lemli Opitz syndrome by GC-MS Smith-Lemli-Opitz syndromeGold 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 UniversityNULLPending01BothTarget condition:110;Difficult condition:0China
4NCT01434745
(ClinicalTrials.gov)
September 20117/9/2011SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol SupplementationSmith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol SupplementationSmith-Lemli-Opitz SyndromeDrug: Simvastatin;Dietary Supplement: LactoseOregon Health and Science UniversityNational Heart, Lung, and Blood Institute (NHLBI)Terminated1 Year89 YearsAll1N/AUnited States
5NCT01110642
(ClinicalTrials.gov)
July 201122/4/2010Novel Treatment for Syndromic IchthyosesOpen-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic IchthyosesSyndromic Ichthyoses;CHILD Syndrome;Smith Lemli Opitz Syndrome;Conradi SyndromeDrug: LovastatinNorthwestern UniversityNULLWithdrawn1 YearN/ABoth0Phase 2United States
6NCT01356420
(ClinicalTrials.gov)
January 201111/5/2011Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz SyndromeSmith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol SupplementationSmith-Lemli-Opitz SyndromeDietary Supplement: Cholesterol supplementationOregon Health and Science UniversityNULLTerminatedN/A85 YearsAll21N/AUnited States
7NCT01773278
(ClinicalTrials.gov)
December 20083/12/2012Cholesterol 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 LossDrug: Antioxidants;Drug: CholesterolUniversity of Colorado, DenverNULLRecruitingN/A65 YearsAll100Phase 2United States
8NCT00114634
(ClinicalTrials.gov)
June 200515/6/2005Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz SyndromeShort-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz SyndromeSmith-Lemli-Opitz SyndromeDietary Supplement: Egg yolk preparation with cholesterol;Dietary Supplement: Egg substitute, without cholesterolEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)NULLCompleted4 Years17 YearsAll13Phase 2United States
9NCT00064792
(ClinicalTrials.gov)
July 200311/7/2003Simvastatin Therapy in Smith-Lemli-Opitz SyndromeInvestigation of Simvastatin Therapy in Smith-Lemli-Opitz SyndromeSmith-Lemli-Opitz SyndromeDrug: Simvastatin Susp.;Drug: OraPlusForbes Porter, M.D.Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Completed4 Years18 YearsAll23Phase 2United States
10NCT00272844
(ClinicalTrials.gov)
January 19984/1/2006Treatment of the Cholesterol Defect in Smith-Lemli-Opitz SyndromeTreatment of the Cholesterol Defect in Smith-Lemli-Opitz SyndromeSmith-Lemli-Opitz SyndromeDrug: crystalline cholesterol oil-based suspensionBoston Children’s HospitalNULLCompletedN/AN/AAll23Phase 1/Phase 2United States