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.
| 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 | NCT04244006 (ClinicalTrials.gov) | July 23, 2020 | 13/1/2020 | A Pilot Study of the Efficacy and Safety of Dupilumab Versus Placebo in Patients With Netherton Syndrome | A Randomized Double-blinded Pilot Study of the Efficacy and Safety of Dupilumab Versus Placebo in Patients With Netherton Syndrome | Netherton Syndrome | Drug: Dupilumab Prefilled Syringe;Other: Placebo Prefilled Syringe | University Hospital, Toulouse | MedSharing | Recruiting | 18 Years | N/A | All | 24 | Phase 2;Phase 3 | France |
| 2 | EUCTR2019-001220-35-FR (EUCTR) | 08/10/2019 | 23/04/2019 | A pilot study of the efficacy and safety of dupilumab versus placebo in patients with Netherton syndrome | A randomized double-blinded pilot study of the efficacy and safety of dupilumab versus placebo in patients with Netherton syndrome - NS-Dupi | Netherton syndrome MedDRA version: 20.0;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] | CHU de Toulouse | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 2 | France | |||
| 3 | NCT02864082 (ClinicalTrials.gov) | March 8, 2017 | 3/8/2016 | 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 | NULL | Completed | 12 Years | N/A | All | 19 | Phase 2 | United States |
| 4 | NCT03041038 (ClinicalTrials.gov) | December 2016 | 17/1/2017 | 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 | Completed | 18 Years | N/A | All | 21 | Phase 2 | United States |
| 5 | JPRN-jRCTs031180409 | 25/12/2013 | 22/03/2019 | 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, 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 Akiharu | NULL | Not Recruiting | Not applicable | Not applicable | Both | 158 | Phase 2 | Japan |
| 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 |
| 6 | EUCTR2011-000917-38-NL (EUCTR) | 13/09/2013 | 09/07/2013 | 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 INN or Proposed INN: Not available Other descriptive name: BPR277 | Novartis Pharma Services AG | NULL | Not Recruiting | Female: yes Male: yes | 85 | Germany;Netherlands;France;United States | |||
| 7 | EUCTR2011-003212-22-GB (EUCTR) | 03/06/2013 | 08/03/2013 | 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] | GOSH/ICH Joint Research & Development Office | NULL | Not Recruiting | Female: yes Male: yes | 5 | Phase 1 | United Kingdom | |||
| 8 | EUCTR2011-000917-38-DE (EUCTR) | 14/09/2011 | 18/07/2011 | 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 INN or Proposed INN: not available Other descriptive name: BPR277 Product Code: BPR277 INN or Proposed INN: not available Other descriptive name: BPR277 | Novartis Pharma Services AG | NULL | Not Recruiting | Female: yes Male: yes | 85 | France;United States;Netherlands;Germany | |||
| 9 | EUCTR2011-001205-27-NL (EUCTR) | 04/08/2011 | 25/07/2011 | 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;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 INN or Proposed INN: BEZAFIBRATE Other descriptive name: none | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: no | Netherlands | |||||
| 10 | NCT01527318 (ClinicalTrials.gov) | August 2011 | 16/1/2012 | 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 | NULL | Completed | 18 Years | 70 Years | Both | 6 | Phase 4 | Netherlands |
| 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 |
| 11 | NCT01428297 (ClinicalTrials.gov) | May 2011 | 19/8/2011 | A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome | A First-In-human Study to Evaluate Safety and Tolerability of Topical BPR277 in Healthy Volunteers, and Proof of Concept (PoC) Studies to Evaluate the Safety, Tolerability, and Efficacy of Topical BPR277 in Patients With Atopic Dermatitis and Netherton Syndrome | Healthy Volunteers;Atopic Dermatitis;Netherton Syndrome | Drug: BPR277 ointment (controlled application);Drug: Placebo (Vehicle);Drug: BPR277 ointment;Drug: BPR277 | Novartis Pharmaceuticals | NULL | Completed | 18 Years | 65 Years | All | 12 | Phase 1 | United States;Netherlands;France;Germany |
| 12 | EUCTR2009-015895-87-NL (EUCTR) | 23/12/2009 | 01/10/2009 | 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 INN or Proposed INN: ZILEUTON Other descriptive name: lipoxygenase inhibitor | UMC St Radboud | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | Netherlands | ||||
| 13 | NCT00004690 (ClinicalTrials.gov) | September 1996 | 24/2/2000 | Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis | Ichthyosis | Drug: monolaurin cream | Cellegy Pharmaceuticals | NULL | Completed | 2 Years | N/A | Both | 90 | Phase 3 | NULL |