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.
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT04154293 | December 5, 2019 | 11 November 2019 | A Vehicle Controlled Study to Evaluate Safety and Efficacy of Topical TMB-001 for Treatment of Congenital Ichthyosis | A 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 Ichthyosis | Congenital Ichthyosis | Drug: Isotretinoin;Other: Vehicle | Timber Pharmceuticals LLC | Not recruiting | 9 Years | N/A | All | 45 | Phase 2 | ||
| 2 | NCT04047732 | August 27, 2019 | 9 September 2019 | Topical 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 Ichthyosis | Biological: KB105 | Krystal Biotech, Inc. | Recruiting | 18 Years | N/A | All | 6 | Phase 1/Phase 2 | United States | |
| 3 | NCT03445650 | July 19, 2018 | 18 March 2019 | RESET 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 Syndrome | Drug: ADX-102 1% Topical Dermal Cream (reproxalap);Drug: Vehicle of ADX-102 Topical Dermal Cream | Aldeyra Therapeutics, Inc. | Recruiting | 3 Years | N/A | All | 39 | Phase 3 | United States | |
| 4 | NCT02864082 | March 8, 2017 | 15 July 2019 | A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis | A Randomized, Bilateral Comparison, Vehicle-Controlled, Safety and Tolerability Study of Topical PAT-001 for the Treatment of Congenital Ichthyosis | Congenital Ichthyosis | Drug: PAT-001, 0.1%;Drug: PAT-001, 0.2%;Drug: Vehicle | Patagonia Pharmaceuticals, LLC | Not recruiting | 12 Years | N/A | All | 19 | Phase 2 | United States | |
| 5 | NCT03041038 | December 2016 | 22 July 2019 | The Efficacy and Safety of Secukinumab in Patients With Ichthyoses | A 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 Ichthyoses | Ichthyosis;Autosomal Recessive Congenital Ichthyosis;Lamellar Ichthyosis;Congenital Ichthyosiform Erythroderma;Epidermolytic Ichthyosis;Netherton Syndrome | Drug: Secukinumab;Drug: Placebo | Northwestern University | Icahn School of Medicine at Mount Sinai | Not recruiting | 18 Years | N/A | All | 21 | Phase 2 | United States |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 6 | NCT02830763 | September 5, 2016 | 15 July 2019 | Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M | Clinical 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-02 | Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan | Not recruiting | 20 Years | N/A | All | 2 | N/A | Italy;Japan | |
| 7 | NCT02402309 | March 2015 | 25 March 2019 | A 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 Syndrome | Drug: Active topical NS2 1% dermatologic cream;Drug: Vehicle placebo 0.0% NS2 dermatologic cream | Aldeyra Therapeutics, Inc. | Not recruiting | 6 Years | N/A | All | 12 | Phase 2 | United States | |
| 8 | NCT02113904 | January 27, 2014 | 16 December 2017 | Clinical Trial Using Humira in Netherton Syndrome | Phase II Clinical Trial Using Humira in Netherton Syndrome | Netherton Syndrome | Drug: Adalimumab | Assistance Publique - Hôpitaux de Paris | Not recruiting | 4 Years | N/A | All | 11 | Phase 2 | France | |
| 9 | JPRN-jRCTs031180409 | 25/12/2013 | 10 September 2019 | Treatment 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 Kubo | Recruiting | NA | NA | Both | 158 | Phase 2 | none | |
| 10 | JPRN-UMIN000012355 | 2013/11/20 | 2 April 2019 | Treatment of the genetic defect of cholesterol biosynthetic pathway by the topical application of statin and cholesterol | CHILD syndrome Conradi-Hunermann-Happle syndrome Atopic dermatitis Psoriasis vulgaris Seborrheic dermatitis Porokeratosis | Topical application of 1% atorvastatin/ 2% cholesterol Topical application of oxiconazole cream | Department of Dermatology, Keio University School of Medicine | Recruiting | 2years-old | 99years-old | Male and Female | 148 | Not selected | Japan | ||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 11 | EUCTR2011-003212-22-GB | 03/06/2013 | 10 March 2014 | A clinical trial to study the effects of genetically modified patients' skin stem cells | Phase I study of ex-vivo lentiviral gene therapy for the inherited skin disease Netherton Syndrome - Gene Therapy for Netherton Syndrome | Netherton 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 Office | Authorised | Female: yes Male: yes | 5 | Phase 1 | United Kingdom | |||
| 12 | NCT03333200 | January 11, 2012 | 11 November 2019 | Longitudinal Study of Neurodegenerative Disorders | Longitudinal Study of Neurodegenerative Disorders | MLD;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 Disease | Other: Palliative Care;Biological: Hematopoetic Stem Cell Transplantation | University of Pittsburgh | Recruiting | N/A | N/A | All | 1500 | Phase 1 | United States | |
| 13 | EUCTR2011-000917-38-DE | 14/09/2011 | 16 February 2015 | CBPR277X2101 | A 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 syndrome | Part 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 AG | Not Recruiting | Female: yes Male: yes | 85 | France;United States;Netherlands;Germany | ||||
| 14 | EUCTR2011-001205-27-NL | 04/08/2011 | 19 March 2012 | The 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 Trail | Neutral 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- | Authorised | Female: no Male: no | Netherlands | ||||||
| 15 | NCT01527318 | August 2011 | 19 February 2015 | The 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 Disease | Drug: Fibrate treatment | Maastricht University Medical Center | Not recruiting | 18 Years | 70 Years | Both | 6 | Phase 4 | Netherlands | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 16 | NCT01110642 | July 2011 | 25 May 2015 | Novel Treatment for Syndromic Ichthyoses | Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses | Syndromic Ichthyoses;CHILD Syndrome;Smith Lemli Opitz Syndrome;Conradi Syndrome | Drug: Lovastatin | Northwestern University | Not recruiting | 1 Year | N/A | Both | 0 | Phase 2 | United States | |
| 17 | NCT01222000 | October 2010 | 19 February 2015 | Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous | TREATMENT OF THE RECESSIVE NONBULLOUS CONGENITAL ICHTHYOSIS BY THE EPIGALLOCATECHINE CUTANEOUS | Lamellar Ichthyosis | Drug: apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side | Centre Hospitalier Universitaire de Nice | Not recruiting | 8 Years | N/A | Both | 8 | Phase 3 | France | |
| 18 | EUCTR2009-015895-87-NL | 23/12/2009 | 19 March 2012 | Application of zileuton (Zyflo CR) in patients with Sjögren Larsson Syndrome - Zileuton in Sjögren Larsson Syndrome | Application of zileuton (Zyflo CR) in patients with Sjögren Larsson Syndrome - Zileuton in Sjögren Larsson Syndrome | Sjögren 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 Radboud | Authorised | Female: yes Male: yes | Netherlands | |||||
| 19 | EUCTR2009-013656-77-FR | 15/10/2009 | 19 March 2012 | Traitment 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 Hospital | Authorised | Female: yes Male: yes | 0 | France | ||||
| 20 | NCT00208026 | September 2005 | 26 August 2019 | Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome | Exploratory Safety and Systemic Absorption of Elidel (Pimecrolimus) 1% Cream for the Treatment of Netherton Syndrome | Netherton Syndrome | Drug: Pimecrolimus 1% Cream | Children's Hospital of Philadelphia | Novartis Pharmaceuticals | Not recruiting | 2 Years | 18 Years | All | 3 | Phase 1/Phase 2 | United States |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 21 | NCT00004690 | September 1996 | 7 April 2015 | Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis | Ichthyosis | Drug: monolaurin cream | Cellegy Pharmaceuticals | Not recruiting | 2 Years | N/A | Both | 90 | Phase 3 |