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 160. 先天性魚鱗癬 [臨床試験数:21,薬物数:31(DrugBank:10),標的遺伝子数:12,標的パスウェイ数:96] 

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"
The queries were searched in Public_title, Scientific_title, and Condition of the data. 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
1NCT04154293December 5, 201911 November 2019A Vehicle Controlled Study to Evaluate Safety and Efficacy of Topical TMB-001 for Treatment of Congenital IchthyosisA Randomized, Parallel, Double-Blind, Vehicle Controlled Study to Evaluate the Safety and Efficacy of Two Concentrations of Topical TMB-001 for the Treatment of Congenital IchthyosisCongenital IchthyosisDrug: Isotretinoin;Other: VehicleTimber Pharmceuticals LLCNot recruiting9 YearsN/AAll45Phase 2
2NCT04047732August 27, 20199 September 2019Topical KB105 Gene Therapy for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI)A Phase I/II Clinical Trial of Topical KB105, a Replication-incompetent, Non-integrating HSV-1 Vector Expressing Human Transglutaminase 1 (TGM1) for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI)TGM-1 Related Autosomal Recessive Congenital IchthyosisBiological: KB105Krystal Biotech, Inc.Recruiting18 YearsN/AAll6Phase 1/Phase 2United States
3NCT03445650July 19, 201818 March 2019RESET Trial - Part 1 (Followed by Reset Trial - Part 2) - A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS)A Phase 3 Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Trial to Evaluate the Safety and Efficacy of ADX-102 1% Topical Dermal Cream (Reproxalap) in Subjects With Sjögren-Larsson Syndrome (SLS)Sjogren-Larsson SyndromeDrug: ADX-102 1% Topical Dermal Cream (reproxalap);Drug: Vehicle of ADX-102 Topical Dermal CreamAldeyra Therapeutics, Inc.Recruiting3 YearsN/AAll39Phase 3United States
4NCT02864082March 8, 201715 July 2019A Safety and Tolerability Study of Topical PAT-001 in Congenital IchthyosisA Randomized, Bilateral Comparison, Vehicle-Controlled, Safety and Tolerability Study of Topical PAT-001 for the Treatment of Congenital IchthyosisCongenital IchthyosisDrug: PAT-001, 0.1%;Drug: PAT-001, 0.2%;Drug: VehiclePatagonia Pharmaceuticals, LLCNot recruiting12 YearsN/AAll19Phase 2United States
5NCT03041038December 201622 July 2019The Efficacy and Safety of Secukinumab in Patients With IchthyosesA Multicenter Study With a Randomized, Double-Blind, Placebo-Controlled Period, Followed by an Open-Label Maintenance Dosing Period to Evaluate the Efficacy and Safety of Secukinumab in Patients With IchthyosesIchthyosis;Autosomal Recessive Congenital Ichthyosis;Lamellar Ichthyosis;Congenital Ichthyosiform Erythroderma;Epidermolytic Ichthyosis;Netherton SyndromeDrug: Secukinumab;Drug: PlaceboNorthwestern UniversityIcahn School of Medicine at Mount SinaiNot recruiting18 YearsN/AAll21Phase 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
6NCT02830763September 5, 201615 July 2019Clinical Study on the Safety of CNT-02 for TGCV and NLSD-MClinical Study on the Safety and Efficacy of Medium-chain Fatty Acid Capsules (CNT-02) for Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Neutral Lipid Storage Disease With Myopathy (NLSD-M)Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV);Neutral Lipid Storage Disease With Myopathy (NLSD-M)Dietary Supplement: CNT-02Translational Research Center for Medical Innovation, Kobe, Hyogo, JapanNot recruiting20 YearsN/AAll2N/AItaly;Japan
7NCT02402309March 201525 March 2019A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)Phase II Study of the Safety, Pharmacokinetics, and Exploratory Activity of Once Daily (QD) Topical Application of NS2 Cream to Treat Ichthyosis in Subjects With Sjögren-Larsson Syndrome (SLS)Sjögren-Larsson SyndromeDrug: Active topical NS2 1% dermatologic cream;Drug: Vehicle placebo 0.0% NS2 dermatologic creamAldeyra Therapeutics, Inc.Not recruiting6 YearsN/AAll12Phase 2United States
8NCT02113904January 27, 201416 December 2017Clinical Trial Using Humira in Netherton SyndromePhase II Clinical Trial Using Humira in Netherton SyndromeNetherton SyndromeDrug: AdalimumabAssistance Publique - Hôpitaux de ParisNot recruiting4 YearsN/AAll11Phase 2France
9JPRN-jRCTs03118040925/12/201310 September 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, topical application of 1% atorvastatin/ 2% cholesterol (twice in a day, maximum 300mL in a month), and topical application of oxiconazole cream (twice in a day, maximum 5g in a day). If there is an effect after 6 months of topical application, patients will continue the treatment.
To healthy subjects, administration or application of 1% atorvastatin/ 2% cholesterol once.
Akiharu KuboRecruitingNANABoth158Phase 2none
10JPRN-UMIN0000123552013/11/202 April 2019Treatment of the genetic defect of cholesterol biosynthetic pathway by the topical application of statin and cholesterolCHILD syndrome Conradi-Hunermann-Happle syndrome Atopic dermatitis Psoriasis vulgaris Seborrheic dermatitis PorokeratosisTopical application of 1% atorvastatin/ 2% cholesterol
Topical application of oxiconazole cream
Department of Dermatology, Keio University School of MedicineRecruiting2years-old99years-oldMale and Female148Not selectedJapan
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
11EUCTR2011-003212-22-GB03/06/201310 March 2014A clinical trial to study the effects of genetically modified patients' skin stem cellsPhase I study of ex-vivo lentiviral gene therapy for the inherited skin disease Netherton Syndrome - Gene Therapy for Netherton SyndromeNetherton Syndrome (NS)
MedDRA version: 14.1 Level: PT Classification code 10062909 Term: Netherton's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Skin and Connective Tissue Diseases [C17]
Product Name: Epithelial sheet generated from transduced autologous keratinocytes using pCCL-INVO-SP
Pharmaceutical Form:
INN or Proposed INN: epithelial sheet generated from transduced autologous keratinocytes using pCCL-INVO-SP
GOSH/ICH Joint Research & Development OfficeAuthorisedFemale: yes
Male: yes
5Phase 1United Kingdom
12NCT03333200January 11, 201211 November 2019Longitudinal Study of Neurodegenerative DisordersLongitudinal Study of Neurodegenerative DisordersMLD;Krabbe Disease;ALD;MPS I;MPS II;MPS III;Vanishing White Matter Disease;GM3 Gangliosidosis;PKAN;Tay-Sachs Disease;NP Deficiency;Osteopetrosis;Alpha-Mannosidosis;Sandhoff Disease;Niemann-Pick Diseases;MPS IV;Gaucher Disease;GAN;GM1 Gangliosidoses;Morquio Disease;S-Adenosylhomocysteine Hydrolase Deficiency;Batten Disease;Pelizaeus-Merzbacher Disease;Leukodystrophy;Lysosomal Storage Diseases;Purine Nucleoside Phosphorylase Deficiency;Multiple Sulfatase Deficiency DiseaseOther: Palliative Care;Biological: Hematopoetic Stem Cell TransplantationUniversity of PittsburghRecruitingN/AN/AAll1500Phase 1United States
13EUCTR2011-000917-38-DE14/09/201116 February 2015CBPR277X2101A first–in-human study to evaluate safety and tolerability of repeated topical administrations of BPR277 ointment in healthy volunteers, and safety, tolerability, and preliminary efficacy of multiple topical administrations of BPR277 in patients with atopic dermatitis and Netherton syndromePart 2: Atopic Dermatitis (AD) Part 3: Netherton Syndrome (NS)
MedDRA version: 14.1 Level: LLT Classification code 10003639 Term: Atopic dermatitis System Organ Class: 100000004858
MedDRA version: 14.1 Level: PT Classification code 10062909 Term: Netherton's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Skin and Connective Tissue Diseases [C17]
Product Code: BPR277
Pharmaceutical Form: Ointment
INN or Proposed INN: not available
Current Sponsor code: BPR277
Other descriptive name: BPR277
Concentration unit: mg/g milligram(s)/gram
Concentration type: equal
Concentration number: 10-
Pharmaceutical form of the placebo: Ointment
Route of administration of the placebo: Topical use (Noncurrent)
Product Code: BPR277
Pharmaceutical Form: Ointment
INN or Proposed INN: not available
Current Sponsor code: BPR277
Other descriptive name: BPR277
Concentration unit: mg/g milligram(s)/gram
Concentration type: equal
Concentration number: 2-
Pharmaceutical form of the placebo: Ointment
Route of administration of the placebo: Topical use (Noncurrent)
Novartis Pharma Services AGNot RecruitingFemale: yes
Male: yes
85France;United States;Netherlands;Germany
14EUCTR2011-001205-27-NL04/08/201119 March 2012The effect of lipid lowering medication on lipid accumulation in patients with neutral lipid storage disease with muscle weakness.The effect of fibrate therapy in two patients with neutral lipid storage disease with myopathy (NLSDM). - Fibrate TrailNeutral lipid storage disease with myopathy
MedDRA version: 13.1 Level: PT Classification code 10007636 Term: Cardiomyopathy System Organ Class: 10007541 - Cardiac disorders
MedDRA version: 13.1 Level: HLGT Classification code 10013317 Term: Lipid metabolism disorders System Organ Class: 10027433 - Metabolism and nutrition disorders
MedDRA version: 13.1 Level: PT Classification code 10028641 Term: Myopathy System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders ;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Trade Name: Bezalip Retard
Product Name: Bezalip Retard
Product Code: RVG 18388
Pharmaceutical Form: Tablet
INN or Proposed INN: BEZAFIBRATE
CAS Number: 41859-67-0
Current Sponsor code: Bezalip
Other descriptive name: none
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 400-
AuthorisedFemale: no
Male: no
Netherlands
15NCT01527318August 201119 February 2015The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)Neutral Lipid Storage DiseaseDrug: Fibrate treatmentMaastricht University Medical CenterNot recruiting18 Years70 YearsBoth6Phase 4Netherlands
No.TrialIDDate_
enrollement
Last_Refreshed_
on
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
16NCT01110642July 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
17NCT01222000October 201019 February 2015Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine CutaneousTREATMENT OF THE RECESSIVE NONBULLOUS CONGENITAL ICHTHYOSIS BY THE EPIGALLOCATECHINE CUTANEOUSLamellar IchthyosisDrug: apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other sideCentre Hospitalier Universitaire de NiceNot recruiting8 YearsN/ABoth8Phase 3France
18EUCTR2009-015895-87-NL23/12/200919 March 2012Application of zileuton (Zyflo CR) in patients with Sjögren Larsson Syndrome - Zileuton in Sjögren Larsson SyndromeApplication of zileuton (Zyflo CR) in patients with Sjögren Larsson Syndrome - Zileuton in Sjögren Larsson SyndromeSjögren Larsson syndrome (SLS) is an autosomal recessive inherited neurometabolic disorder which is characterized by a clinical triad of congenital ichthyosis, spastic di- or tetraplegia and mental retardation. A disturbance of lipid metabolism due to deficiency of the microsomal fatty aldehyde dehydrogenase (FALDH) underlies SLS.Trade Name: Zyflo CR
Product Name: zileuton
Pharmaceutical Form: Tablet
INN or Proposed INN: ZILEUTON
CAS Number: 111406872
Other descriptive name: lipoxygenase inhibitor
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 600-600
Pharmaceutical form of the placebo: Tablet
Route of administration of the placebo: Oral use
UMC St RadboudAuthorisedFemale: yes
Male: yes
Netherlands
19EUCTR2009-013656-77-FR15/10/200919 March 2012Traitment of recessive nonbullous congenital ichthyosis with topic Epigallocatechin.Traitment of recessive nonbullous congenital ichthyosis with topic Epigallocatechin.Recessive nonbullous congenital ichthyosis
MedDRA version: 12.0 Level: HLT Classification code 10021197 Term: Ichthyoses
Trade Name: VEREGEN(R)
Product Name: VEREGEN(R)
Pharmaceutical Form: Ointment
Nice University HospitalAuthorisedFemale: yes
Male: yes
0France
20NCT00208026September 200526 August 2019Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton SyndromeExploratory Safety and Systemic Absorption of Elidel (Pimecrolimus) 1% Cream for the Treatment of Netherton SyndromeNetherton SyndromeDrug: Pimecrolimus 1% CreamChildren's Hospital of PhiladelphiaNovartis PharmaceuticalsNot recruiting2 Years18 YearsAll3Phase 1/Phase 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
21NCT00004690September 19967 April 2015Phase III Study of Monolaurin Cream Therapy for Patients With Congenital IchthyosisIchthyosisDrug: monolaurin creamCellegy PharmaceuticalsNot recruiting2 YearsN/ABoth90Phase 3

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