160. 先天性魚鱗癬 Congenital ichthyosis Clinical trials / Disease details
臨床試験数 : 36 / 薬物数 : 72 - (DrugBank : 21) / 標的遺伝子数 : 18 - 標的パスウェイ数 : 111
| 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 | EUCTR2021-003210-39-AT (EUCTR) | 01/02/2022 | 08/09/2021 | A phase I/II, multicenter, randomized, double-blind, placebo within-patient controlled study to evaluate the safety and efficacy SXR1096 skin cream in patients with Netherton syndrome (NS) | A phase I/II, multicenter, randomized, double-blind, placebo within-patient controlled, first-time-in-man (FTIM) Proof of Concept (PoC) study to evaluate the safety and efficacy of topically applied SXR1096 skin cream in patients with Netherton syndrome (NS) | 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] | Product Code: SXR1096 | Sixera Pharma | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 20 | Phase 1;Phase 2 | Finland;Austria | ||
| 2 | EUCTR2021-003210-39-FI (EUCTR) | 23/11/2021 | 20/08/2021 | A phase I/II, multicenter, randomized, double-blind, placebo within-patient controlled study to evaluate the safety and efficacy of SXR1096 skin cream in patients with Netherton syndrome (NS) | A phase I/II, multicenter, randomized, double-blind, placebo within-patient controlled, first-time-in-man (FTIM) Proof of Concept (PoC) study to evaluate the safety and efficacy of topically applied SXR1096 skin cream in patients with Netherton syndrome (NS) | 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] | Product Code: SXR1096 | Sixera Pharma | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 20 | Phase 1;Phase 2 | Finland | ||
| 3 | NCT04996485 (ClinicalTrials.gov) | March 1, 2021 | 21/7/2021 | Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children | Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children | Congenital Ichthyosis | Drug: Secukinumab Injection;Drug: Ustekinumab Injection;Drug: Dupilumab Injection;Other: Symptomatic therapy | National Medical Research Center for Children's Health, Russian Federation | NULL | Recruiting | 6 Months | 18 Years | All | 50 | Phase 4 | Russian Federation |
| 4 | ChiCTR2000037278 | 2020-09-01 | 2020-08-27 | Effects and Safety of Simvastatin Ointment in the Treatment of Congenital Ichthyosis | Effects and Safety of Simvastatin Ointment in the Treatment of Congenital Ichthyosis | inherited ichthyosis | ARCI group:Concentration of simvastatin cream;XLI group:Concentration of simvastatin cream; | Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine | NULL | Recruiting | Both | ARCI group:45;XLI group:10; | China | |||
| 5 | 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 |
| 6 | NCT04154293 (ClinicalTrials.gov) | December 3, 2019 | 1/11/2019 | 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 | NULL | Completed | 9 Years | N/A | All | 34 | Phase 2 | United States;Australia |
| 7 | 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] | Trade Name: Dupixent Product Name: DUPILUMAB Product Code: SAR231893 | CHU de Toulouse | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | France | ||
| 8 | NCT04047732 (ClinicalTrials.gov) | August 27, 2019 | 29/7/2019 | 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. | NULL | Active, not recruiting | 18 Years | N/A | All | 6 | Phase 1/Phase 2 | United States |
| 9 | NCT03445650 (ClinicalTrials.gov) | July 18, 2018 | 14/2/2018 | 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. | NULL | Completed | 3 Years | N/A | All | 11 | Phase 3 | United States |
| 10 | EUCTR2016-001948-19-IT (EUCTR) | 05/09/2017 | 25/05/2021 | A Study to Assess the Efficacy and Safety of Abatacept in Adults with Active Primary Sj¿grens Syndrome | A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Subcutaneous Abatacept in Adults with Active Primary Sj¿grens Syndrome - - | Adults with moderately to severely Active Primary Sjogrens Syndrome MedDRA version: 20.1;Level: PT;Classification code 10048676;Term: Sjogren-Larsson syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 21.0;Level: LLT;Classification code 10040766;Term: Sjogren's disease;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders MedDRA version: 21.0;Classification code 10040767;Term: Sjogren's syndrome;Classification code 10042846;Term: Syndrome Sjogren's;Classification code 10040765;Term: Sjogren's;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders;Therapeutic area: Diseases [C] - Immune System Diseases [C20] | Trade Name: Orencia INN or Proposed INN: 00305800 | BRISTOL-MYERS SQUIBB INTERNATIONAL CORPORATION | NULL | Not Recruiting | Female: yes Male: yes | 288 | Phase 3 | Czechia;Italy;France;Czech Republic;Mexico;Canada;Argentina;Brazil;Australia;Denmark;Germany;Norway;Japan;Korea, Republic of;Sweden | ||
| 11 | EUCTR2016-000101-37-GR (EUCTR) | 07/04/2017 | 15/03/2017 | Proof of Concept Study to Evaluate the Efficacy and Safety of BMS-931699 (lulizumab) or BMS-986142 in Primary Sjögren's Syndrome | A Phase II, Randomized, Multi-Center, Double-Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of BMS-931699 (lulizumab) or BMS-986142 in Subjects with Moderate to Severe Primary Sjögren's Syndrome - POC H2H study | subjects with moderate to severe Sjögren's syndrome MedDRA version: 19.1;Level: LLT;Classification code 10040766;Term: Sjogren's disease;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders MedDRA version: 19.1;Level: PT;Classification code 10040767;Term: Sjogren's syndrome;Classification code 10042846;Term: Syndrome Sjogren's;Classification code 10040765;Term: Sjogren's;Classification code 10048676;Term: Sjogren-Larsson syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Immune System Diseases [C20] | Product Name: BTK Inhibitor Product Code: BMS-986142 INN or Proposed INN: BTK Inhibitor Other descriptive name: BMS986142 Product Name: BTK Inhibitor Product Code: BMS-986142 INN or Proposed INN: BTK Inhibitor Other descriptive name: BMS986142 Product Name: Anti-CD28dab Product Code: BMS-931699 INN or Proposed INN: Anti-CD28dAb Other descriptive name: Anti-CD28dAb | Bristol-Myers Squibb International Corporation | NULL | Not Recruiting | Female: yes Male: yes | 160 | Phase 2 | Poland;Belgium;Romania;Peru;Denmark;South Africa;Norway;Netherlands;United States;Greece;Russian Federation;Chile;Colombia;United Kingdom;Italy;France;Hungary;Mexico | ||
| 12 | EUCTR2016-000101-37-IT (EUCTR) | 29/03/2017 | 27/02/2018 | Proof of Concept Study to Evaluate the Efficacy and Safety of BMS-931699 (lulizumab) or BMS-986142 in Primary Sjögren's Syndrome | A Phase II, Randomized, Multi-Center, Double-Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of BMS-931699 (lulizumab) or BMS-986142 in Subjects with Moderate to Severe Primary Sjögren's Syndrome - POC H2H study | subjects with moderate to severe Sjögren's syndrome MedDRA version: 20.0;Level: LLT;Classification code 10040766;Term: Sjogren's disease;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders MedDRA version: 20.1;Level: PT;Classification code 10048676;Term: Sjogren-Larsson syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Classification code 10040767;Term: Sjogren's syndrome;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders MedDRA version: 20.0;Classification code 10042846;Term: Syndrome Sjogren's;Classification code 10040765;Term: Sjogren's;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders;Therapeutic area: Diseases [C] - Immune System Diseases [C20] | Product Name: BTK Inhibitor Product Code: BMS-986142 INN or Proposed INN: BTK Inhibitor Other descriptive name: BMS986142 Product Name: BTK Inhibitor Product Code: 1643368-58-4 INN or Proposed INN: BTK Inhibitor Other descriptive name: BMS986142 Product Name: Anti-CD28dab Product Code: BMS-931699 INN or Proposed INN: Anti-CD28dAb Other descriptive name: Anti-CD28dAb | BRISTOL-MYERS SQUIBB INTERNATIONAL CORPORATION | NULL | Not Recruiting | Female: yes Male: yes | 120 | Phase 2 | United States;Greece;Russian Federation;Chile;Colombia;Italy;United Kingdom;France;Mexico;Poland;Belgium;Romania;Peru;Denmark;South Africa;Netherlands;Norway | ||
| 13 | 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 |
| 14 | EUCTR2016-001948-19-SE (EUCTR) | 02/02/2017 | 19/10/2016 | A Study to Assess the Efficacy and Safety of Abatacept in Adults with Active Primary Sjögrens Syndrome | A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Subcutaneous Abatacept in Adults with Active Primary Sjögrens Syndrome | Adults with moderately to severely Active Primary Sjögrens Syndrome MedDRA version: 20.0;Level: LLT;Classification code 10040766;Term: Sjogren's disease;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders MedDRA version: 20.0;Level: PT;Classification code 10040767;Term: Sjogren's syndrome;Classification code 10042846;Term: Syndrome Sjogren's;Classification code 10040765;Term: Sjogren's;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders MedDRA version: 20.1;Classification code 10048676;Term: Sjogren-Larsson syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Immune System Diseases [C20] | Trade Name: Orencia INN or Proposed INN: ABATACEPT | Bristol-Myers Squibb International Corporation | NULL | Not Recruiting | Female: yes Male: yes | 288 | Phase 3 | Italy;France;Czech Republic;Mexico;Canada;Argentina;Brazil;Australia;Denmark;Norway;Germany;Japan;Sweden;Korea, Republic of | ||
| 15 | EUCTR2016-001948-19-CZ (EUCTR) | 28/12/2016 | 27/10/2016 | A Study to Assess the Efficacy and Safety of Abatacept in Adults with Active Primary Sjögrens Syndrome | A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Subcutaneous Abatacept in Adults with Active Primary Sjögrens Syndrome | Adults with moderately to severely Active Primary Sjögrens Syndrome MedDRA version: 20.0;Level: LLT;Classification code 10040766;Term: Sjogren's disease;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders MedDRA version: 20.0;Level: PT;Classification code 10040767;Term: Sjogren's syndrome;Classification code 10042846;Term: Syndrome Sjogren's;Classification code 10040765;Term: Sjogren's;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders MedDRA version: 20.1;Classification code 10048676;Term: Sjogren-Larsson syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Immune System Diseases [C20] | Trade Name: Orencia INN or Proposed INN: ABATACEPT | Bristol-Myers Squibb International Corporation | NULL | Not Recruiting | Female: yes Male: yes | 288 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | Italy;France;Czech Republic;Mexico;Canada;Argentina;Brazil;Australia;Denmark;Norway;Germany;Japan;Sweden;Korea, Republic of | ||
| 16 | EUCTR2016-001948-19-FR (EUCTR) | 02/12/2016 | 07/11/2016 | A Study to Assess the Efficacy and Safety of Abatacept in Adults with Active Primary Sjögrens Syndrome | A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Subcutaneous Abatacept in Adults with Active Primary Sjögrens Syndrome | Adults with moderately to severely Active Primary Sjögrens Syndrome MedDRA version: 19.0;Level: LLT;Classification code 10040766;Term: Sjogren's disease;System Organ Class: 10028395 - Musculoskeletal and connective tissue disorders MedDRA version: 19.0;Level: PT;Classification code 10040767;Term: Sjogren's syndrome;Classification code 10042846;Term: Syndrome Sjogren's;Classification code 10040765;Term: Sjogren's;Classification code 10048676;Term: Sjogren-Larsson syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Immune System Diseases [C20] | Trade Name: Orencia INN or Proposed INN: ABATACEPT | Bristol-Myers Squibb International Corporation | NULL | Not Recruiting | Female: yes Male: yes | 288 | Phase 3 | Italy;France;Czech Republic;Mexico;Canada;Argentina;Brazil;Australia;Denmark;Germany;Norway;Japan;Sweden;Korea, Republic of | ||
| 17 | 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 |
| 18 | NCT02830763 (ClinicalTrials.gov) | September 5, 2016 | 6/7/2016 | 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 | NULL | Terminated | 20 Years | N/A | All | 2 | N/A | Italy;Japan |
| 19 | NCT02402309 (ClinicalTrials.gov) | March 2015 | 17/3/2015 | 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. | NULL | Completed | 6 Years | N/A | All | 12 | Phase 2 | United States |
| 20 | NCT02383316 (ClinicalTrials.gov) | January 2015 | 23/12/2014 | Study of Metabolic Modifications in Children With Noonan Syndrome | Study of Metabolic Modifications in Children With Noonan Syndrome | Child Syndrome | Other: Oral Glucose tolerance test | University Hospital, Toulouse | NULL | Completed | 7 Years | 18 Years | All | 20 | N/A | France |
| 21 | NCT02113904 (ClinicalTrials.gov) | January 27, 2014 | 2/4/2014 | 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 | NULL | Completed | 4 Years | N/A | All | 11 | Phase 2 | France |
| 22 | 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 |
| 23 | EUCTR2013-002205-54-FR (EUCTR) | 17/09/2013 | 19/06/2015 | N/A | N/A - ANTI-TNF-SN | MedDRA version: 18.0;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] | Trade Name: Humira Product Name: Humira Product Code: L04AB04 | ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS (AP-HP) | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | France | ||||
| 24 | 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 | |||
| 25 | 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] | Product Name: Epithelial sheet generated from transduced autologous keratinocytes using pCCL-INVO-SP INN or Proposed INN: epithelial sheet generated from transduced autologous keratinocytes using pCCL-INVO-SP | GOSH/ICH Joint Research & Development Office | NULL | Not Recruiting | Female: yes Male: yes | 5 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United Kingdom | ||
| 26 | NCT03333200 (ClinicalTrials.gov) | January 11, 2012 | 24/4/2017 | 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 | NULL | Recruiting | N/A | N/A | All | 1500 | United States | |
| 27 | 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 | |||
| 28 | 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 | |||||
| 29 | 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 |
| 30 | NCT01110642 (ClinicalTrials.gov) | July 2011 | 22/4/2010 | 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 | NULL | Withdrawn | 1 Year | N/A | Both | 0 | Phase 2 | United States |
| 31 | 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 |
| 32 | NCT01222000 (ClinicalTrials.gov) | October 2010 | 12/10/2010 | 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 | NULL | Not yet recruiting | 8 Years | N/A | Both | 8 | Phase 3 | France |
| 33 | 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 | Not Recruiting | Female: yes Male: yes | 20 | Phase 3 | Netherlands | ||
| 34 | EUCTR2009-013656-77-FR (EUCTR) | 15/10/2009 | 06/08/2009 | 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) | Nice University Hospital | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 0 | France | |||
| 35 | NCT00208026 (ClinicalTrials.gov) | September 2005 | 13/9/2005 | 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 | Completed | 2 Years | 18 Years | All | 3 | Phase 1/Phase 2 | United States |
| 36 | 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 |