DDrare: Database of Drug Development for Rare Diseases

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.

Drug = Antioxidants; Cholesterol; Cholesterol supplementation; Cholic Acid; Crystalline cholesterol oil-based suspension; Cysteine; DHC; Egg; Egg substitute, without cholesterol; Egg yolk; Egg yolk preparation with cholesterol; Gold; Lactose; Lovastatin; N-acetyl cysteine; OraPlus; Simvastatin; Simvastatin Susp.

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

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

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

Phase 1;Phase 2

United States