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	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

No.

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Public_title

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agemin

Inclusion_
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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

Phase 2

United States