:Cholesterol    (DrugBank: Cholesterol)

6 diseases
告示番号疾患名(ページ内リンク)臨床試験数
19ライソゾーム病19
90網膜色素変性症1
160先天性魚鱗癬2
259レシチンコレステロールアシルトランスフェラーゼ欠損症1
261タンジール病1
310先天異常症候群6

19. ライソゾーム病 [臨床試験数:784,薬物数:673(DrugBank:101),標的遺伝子数:68,標的パスウェイ数:184
Searched query = "Lysosomal storage disease", "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease", "Niemann-Pick type C", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis"
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.
19 / 784 trials found
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
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Recruitment_
Status
Inclusion_
agemin
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agemax
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Target_
size
PhaseCountries
1NCT02912793March 20, 201719/8/2016Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C PatientsA Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-ß-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical OutcomesNiemann-Pick Disease, Type C1Drug: Hydroxypropyl-beta-cyclodextrinCTD Holdings, Inc.NULLRecruiting2 YearsN/AAll12Phase 1/Phase 2Israel;Sweden;United Kingdom
2EUCTR2015-005761-23-SE19/01/201709/09/2016A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patientsA Phase I/II study to evaluate the safety and pharmacokinetics of intravenous Trappsol Cyclo (HP-ß-CD) in patients with Niemann-Pick disease type C (NPC-1) and the pharmacodynamic effects of treatment upon markers of cholesterol metabolism and clinical outcomes Niemann-Pick disease type C
MedDRA version: 20.0 Level: PT Classification code 10029403 Term: Niemann-Pick disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Cyclo Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
12 Human pharmacology (Phase 1): yes Therapeut1c exploratory (Phase 2): yes Therapeut1c conf1rmatory - (Phase 3): no Therapeut1c use (Phase 4): noItaly;United Kingdom;Sweden
3EUCTR2015-005761-23-GB26/09/201603/08/2016A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patientsA Phase I/II study to evaluate the safety and pharmacokinetics of intravenous Trappsol Cyclo (HP-ß-CD) in patients with Niemann-Pick disease type C (NPC-1) and the pharmacodynamic effects of treatment upon markers of cholesterol metabolism and clinical outcomes Niemann-Pick disease type C
MedDRA version: 20.0 Level: PT Classification code 10029403 Term: Niemann-Pick disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
CTD Holdings, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
12 Human pharmacology (Phase 1): yes Therapeut1c exploratory (Phase 2): yes Therapeut1c conf1rmatory - (Phase 3): no Therapeut1c use (Phase 4): noItaly;United Kingdom;Sweden
4EUCTR2014-000533-22-FI23/06/201505/06/2015Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals IncNULLNot RecruitingFemale: yes
Male: yes
10Phase 2United States;Finland;Italy;United Kingdom
5EUCTR2011-004287-30-NL29/05/201501/04/2015Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals IncNULLNot RecruitingFemale: yes
Male: yes
30Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
6EUCTR2011-004287-30-IT18/09/201418/04/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 16.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Poland;Croatia;Australia;Denmark;Netherlands;Germany;Japan
7EUCTR2014-000533-22-IT18/09/201422/07/2014Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 17.0Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
10Phase 2United States;Finland;United Kingdom;Italy
8EUCTR2011-004287-30-DE12/08/201413/05/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuitcals IncNULLNot RecruitingFemale: yes
Male: yes
30Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Germany;Netherlands;Japan
9EUCTR2011-004287-30-BE22/07/201426/05/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 17.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma Corp.NULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan
10EUCTR2011-004287-30-DK19/06/201403/04/2014Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency (LALD)
MedDRA version: 19.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: Sebelipase Alfa
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals incNULLNot RecruitingFemale: yes
Male: yes
20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Poland;Brazil;Croatia;Denmark;Australia;Netherlands;Germany;Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
11EUCTR2011-002750-31-HR17/07/201321/05/2014A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 17.0Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma CorporationNULLNot RecruitingFemale: yes
Male: yes
55Phase 3Taiwan;Greece;Spain;Ukraine;Israel;Chile;Russian Federation;Italy;France;Cyprus;Denmark;Australia;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Sweden
12EUCTR2011-002750-31-ES06/05/201306/03/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 15.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma CorporationNULLNot RecruitingFemale: yes
Male: yes
55Phase 3Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Belgium;Poland;Brazil;Romania;Croatia;Germany;Sweden
13EUCTR2011-002750-31-IT15/04/201325/02/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 14.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
55Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Poland;Belgium;Brazil;Romania;Croatia;Germany;Sweden
14EUCTR2011-002750-31-GB18/03/201311/02/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 19.0Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: KANUMA
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals, Inc.NULLNot RecruitingFemale: yes
Male: yes
55Phase 3United States;Taiwan;Greece;Spain;Ukraine;Chile;Israel;Russian Federation;Italy;France;Cyprus;Denmark;Australia;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Japan;Sweden
15NCT01488097December 12, 201126/11/2011Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase DeficiencyAn Open Label Multicenter Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 in Adult Subjects With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Who Previously Received Treatment in Study LAL-CL01Cholesterol Ester Storage Disease (CESD);Lysosomal Acid Lipase Deficiency;LAL-DeficiencyDrug: sebelipase alfaAlexion PharmaceuticalsNULLCompleted18 YearsN/AAll8Phase 2United States;Canada;Czechia;France;United Kingdom;Czech Republic
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
16EUCTR2011-001513-13-CZ10/11/201112/09/2011A research study to look at the long-term safety, effectiveness and the effects on the body of a new drug, SBC-102, in adults with liver problems caused by a deficiency in the enzyme that breaks down fats. This is an extension study for those subjects who previously received treatment in study LAL-CL01.AN OPEN LABEL MULTICENTER EXTENSION STUDY TO EVALUATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF SBC-102 IN ADULT SUBJECTS WITH LIVER DYSFUNCTION DUE TO LYSOSOMAL ACID LIPASE DEFICIENCY WHO PREVIOUSLY RECEIVED TREATMENT IN STUDY LAL-CL01 - SBC-102 in patients with liver dysfunction due to LAL deficiency Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types.
MedDRA version: 14.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850
MedDRA version: 14.1Level: HLGTClassification code 10021605Term: Inborn errors of metabolismSystem Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 14.1Level: SOCClassification code 10027433Term: Metabolism and nutrition disordersSystem Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: recombinant human lysosomal acid lipase
Product Code: SBC-102
INN or Proposed INN: sebelipase alfa
Other descriptive name: recombinant human lysosomal acid lipase (rhLAL), esterase, cholesterol (human gene LIPA), lysosomal acid lipase (human gene LIPA)
Synageva Biopharma Corp.NULLNot RecruitingFemale: yes
Male: yes
9Phase 2United States;France;Czech Republic;United Kingdom
17NCT01307098April 25, 20111/3/2011Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase DeficiencyAn Open-Label Multicenter Study to Evaluate the Safety, Tolerability and Pharmacokinetics of SBC-102 in Adult Participants With Liver Dysfunction Due to Lysosomal Acid Lipase DeficiencyCholesterol Ester Storage Disease(CESD);Lysosomal Acid Lipase Deficiency;LAL-DeficiencyDrug: Sebelipase alfa 0.35 mg/kg;Drug: Sebelipase alfa 1 mg/kg;Drug: Sebelipase alfa 3 mg/kgAlexion PharmaceuticalsNULLCompleted18 Years65 YearsAll9Phase 1/Phase 2United States;Czechia;France;United Kingdom;Czech Republic
18EUCTR2011-002750-31-FR12/11/2018A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 20.0Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Synageva BioPharma CorporationNULLNot RecruitingFemale: yes
Male: yes
55Phase 3Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Sweden
19EUCTR2011-002750-31-PL03/04/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Lysosomal Acid Lipase Deficiency
MedDRA version: 20.0Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Trade Name: KANUMA
Product Name: sebelipase alfa
Product Code: SBC-102
INN or Proposed INN: NA
Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha
Alexion Pharmaceuticals, Inc.NULLNot RecruitingFemale: yes
Male: yes
55Phase 3United States;Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Romania;Croatia;Germany;Japan;Sweden

90. 網膜色素変性症 [臨床試験数:103,薬物数:158(DrugBank:42),標的遺伝子数:52,標的パスウェイ数:107
Searched query = "Retinitis pigmentosa", "Rod dystrophy", "Rod-Cone Dystrophy"
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.
1 / 103 trial found
No.TrialIDDate_
enrollment
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registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
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agemin
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Inclusion_
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size
PhaseCountries
1NCT01773278December 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

160. 先天性魚鱗癬 [臨床試験数:32,薬物数:62(DrugBank:18),標的遺伝子数:15,標的パスウェイ数:107
Searched query = "Congenital ichthyosis", "Keratinopathic ichthyosis", "Epidermolytic ichthyosis", "Harlequin ichthyosis", "Congenital Ichthyosiform Erythroderma", "Foliate ichthyosis", "Ichthyosis syndrome", "Netherton syndrome", "Sjogren-Larsson syndrome", "Sjögren-Larsson syndrome", "Keratitis-ichtyosis-deafness syndrome", "Dorfman-Chanarin syndrome", "Neutral lipid storage disease", "NLSD", "Multiple sulfatase deficiency", "Austin disease", "Recessive X-linked ichthyosis", "RXLI", "X-linked recessive ichthyosis", "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "IBID", "Trichothiodystrophy", "Follicular ichthyosis", "Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome", "CHILD syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome", "CHHS"
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.
2 / 32 trials found
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
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agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1JPRN-jRCTs03118040925/12/201322/03/2019Treatment of the genetic defect of cholesterol biosynthetic pathway.Treatment of the genetic defect of cholesterol biosynthetic pathway by the topical application of statin and cholesterol. CHILD syndrome, Conradi syndrome, porokeratosis, atopic dermatitis, psoriasis, seborrheic dermatitis
Dermatitis and eczema
To patients, 1% atorvastatin/ 2% cholesterol lotion and/or 1% atorvastatin/ 2% cholesterol ointment, and/or 1% oxiconazole cream are topically applied on the skin. To healthy subjects, administration of atorvastatin or topical application of 1% atorvastatin/ 2% cholesterol is performed once to investigate drug metabolism.Kubo AkiharuNULLNot RecruitingNot applicableNot applicableBoth158Japan
2NCT01110642July 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

259. レシチンコレステロールアシルトランスフェラーゼ欠損症 [臨床試験数:1,薬物数:2(DrugBank:1),標的遺伝子数:0,標的パスウェイ数:0]
Searched query = "Lecithin-cholesterol acyltransferase deficiency", "LCAT deficiency", "Fish-eye disease"
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.
1 / 1 trial found
No.TrialIDDate_
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1NCT01782027October 201230/1/2013Mendelian Reverse Cholesterol Transport StudyA Validation Study Evaluating the Use of 3H-Cholesterol Bound to Albumin as a Method to Assess Reverse Cholesterol Transport in Subjects With Monogenic Diseases Affecting HDL MetabolismCholesterol, HDL;Lipid Metabolism, Inborn Errors;Tangier Disease;LCAT Deficiency;Cholesteryl Ester Transfer Protein (CETP) DeficiencyDrug: 3H-cholesterol bound to albuminUniversity of PennsylvaniaNULLSuspended18 Years75 YearsAll30N/AUnited States

261. タンジール病 [臨床試験数:1,薬物数:2(DrugBank:1),標的遺伝子数:0,標的パスウェイ数:0]
Searched query = "Tangier disease"
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.
1 / 1 trial found
No.TrialIDDate_
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1NCT01782027October 201230/1/2013Mendelian Reverse Cholesterol Transport StudyA Validation Study Evaluating the Use of 3H-Cholesterol Bound to Albumin as a Method to Assess Reverse Cholesterol Transport in Subjects With Monogenic Diseases Affecting HDL MetabolismCholesterol, HDL;Lipid Metabolism, Inborn Errors;Tangier Disease;LCAT Deficiency;Cholesteryl Ester Transfer Protein (CETP) DeficiencyDrug: 3H-cholesterol bound to albuminUniversity of PennsylvaniaNULLSuspended18 Years75 YearsAll30N/AUnited States

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.
6 / 10 trials found
No.TrialIDDate_
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1NCT01434745September 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
2NCT01110642July 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
3NCT01356420January 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
4NCT01773278December 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
5NCT00114634June 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
No.TrialIDDate_
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6NCT00272844January 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