DDrare: Database of Drug Development for Rare Diseases

158. 結節性硬化症
［臨床試験数：100，薬物数：62（DrugBank：16），標的遺伝子数：35，標的パスウェイ数：115］

Searched query = "Tuberous sclerosis", "Tuberous sclerosis complex"
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 = AED; Afinitor; Afinitor 5mg Tablets; Antiepileptic drug (1 to 3 only); Aspirin; Bumetanide; CANNABIDIOL; CBD; CBD - Oral Solution, is known as Epidiolex, and is the approved name in the USA.; CBD-Oral Solution, is known as Epidiolex, and is the approved name in the USA.; Calcitriol; Cannabidiol; Cannabidiol (CBD); Certican; Certican 1 mg tablets; Doxycycline; EVEROLIMUS; Everolimus; Everolimus (RAD001); Everolimus 2mg dispersible tablet; Everolimus Oral Product; GWP42003-P; Ganaxolone; Gold; L04AA18; Metformin; Metformin (generic); Metformin hydrochloride; NPC-12G gel; Open label RAD001 (only used for post-extension phase); Petrolatum; Propranolol; RAD001; RAD001 1mg; RAD001 2,5 mg; RAD001 5mg; RAD001 round tablets; RAPAMUNE; Rapamune; Rapamune 1 mg/ml solución oral; Rapamycin; Rapamycin cream, topical, 0.5%, 1.0% w/w; Rapamycin, sirolimus; Rapamycin-calcitriol combination; SIROLIMUS; Simvastatin; Sirolimus; Sirolimus 0.2%; Sirolimus 0.4%; Sirolimus Oral Product; Skincerity; Skincerity plus sirolimus/rapamycin; Skinercity plus sirolimus/rapamycin; Standard of care; TAVT-18 (sirolimus); Tacrolimus; Turmeric; VIGABATRIN; Vigabatrin; Vigabatrin (Sabril); Vigabatrin (sabril); Votubia

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	ChiCTR-DDD-17010586	2016-01-01	2017-02-08	Prenatal diagnosis of tuberous sclerosis by fetal echocardiography combined with high throughput gene sequencing	Prenatal diagnosis of TSC using high-throughput gene sequencing combined with fetal echocardiography	Tuberous sclerosis complex	Gold Standard:A Clinical diagnostic criteria of tuberous sclerosis (TSC) for the postnatal population 1. Definite diagnosis: 2 major features or 1 major feature and 2 minor teatures 2. Possible diagnosis: 1 major feature or 2 minor features [major features: (1) Facial angiofibro or forehead plaque, (2) 'Nontraumatic' periungual&#;Index test:1. Prenatal diagnosis of TSC high-risk fetus by the traditional method (amniocentesis) using the gold standard; 2. Prenatal diagnosis of TSC high-risk fetus by maternal peripheral blood gene detection.;	An Zhen Hospital affiliated to Capital Medical University, Beijing;Beijing Key Laboratory of Fetal Heart Diseases and Maternal-Fetal Medicine	NULL	Recruiting			Female	Target condition:30;Difficult condition:5		China

No.

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Intervention

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agemin

Inclusion_
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ChiCTR-DDD-17010586

2016-01-01

2017-02-08

Prenatal diagnosis of tuberous sclerosis by fetal echocardiography combined with high throughput gene sequencing

Prenatal diagnosis of TSC using high-throughput gene sequencing combined with fetal echocardiography

Tuberous sclerosis complex

Gold Standard:A Clinical diagnostic criteria of tuberous sclerosis (TSC) for the postnatal population
1. Definite diagnosis: 2 major features or 1 major feature and 2 minor teatures
2. Possible diagnosis: 1 major feature or 2 minor features
[major features: (1) Facial angiofibro or forehead plaque, (2) 'Nontraumatic' periungual&#;Index test:1. Prenatal diagnosis of TSC high-risk fetus by the traditional method (amniocentesis) using the gold standard;
2. Prenatal diagnosis of TSC high-risk fetus by maternal peripheral blood gene detection.;

An Zhen Hospital affiliated to Capital Medical University, Beijing;Beijing Key Laboratory of Fetal Heart Diseases and Maternal-Fetal Medicine

NULL

Recruiting

Female

Target condition:30;Difficult condition:5

China