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 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:2] 

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: 11/20/2019, 11/21/2019. Trials are sorted by Date_enrolment from most recent to oldest in the table.

Search in Page    e.g. "Phase 3", "Not recruiting", "Japan"    Synonyms (DrugBank) were also searched for.
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT03720990November 1, 201914 October 2019Smith-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 PittsburghNot recruiting2 Years25 YearsAll15Phase 1/Phase 2United States
2NCT01434745September 201130 September 2019SLOS: 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)Not recruiting1 Year89 YearsAll1N/AUnited States
3NCT01110642July 201125 May 2015Novel 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 UniversityNot recruiting1 YearN/ABoth0Phase 2United States
4NCT01356420January 20113 June 2019Sterol 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 UniversityNot recruitingN/A85 YearsAll21N/AUnited States
5NCT01773278December 200814 October 2019Cholesterol 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, DenverRecruitingN/A65 YearsAll100Phase 2United States
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
6NCT00114634June 200519 October 2017Short-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)Not recruiting4 Years17 YearsAll13Phase 2United States
7NCT00064792July 200319 October 2017Simvastatin 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)Not recruiting4 Years18 YearsAll23Phase 2United States
8NCT00272844January 199816 December 2017Treatment 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 HospitalNot recruitingN/AN/AAll23Phase 1/Phase 2United States

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