160. Congenital ichthyosis
32 clinical trials,   62 drugs   (DrugBank: 18 drugs),   15 drug target genes,   107 drug target pathways

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.

Search in Page e.g. "Phase 3", "Not recruiting", "Japan"
13 trials found
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT04244006
(ClinicalTrials.gov)
July 23, 202013/1/2020A Pilot Study of the Efficacy and Safety of Dupilumab Versus Placebo in Patients With Netherton SyndromeA Randomized Double-blinded Pilot Study of the Efficacy and Safety of Dupilumab Versus Placebo in Patients With Netherton SyndromeNetherton SyndromeDrug: Dupilumab Prefilled Syringe;Other: Placebo Prefilled SyringeUniversity Hospital, ToulouseMedSharingRecruiting18 YearsN/AAll24Phase 2;Phase 3France
2EUCTR2019-001220-35-FR
(EUCTR)
08/10/201923/04/2019A pilot study of the efficacy and safety of dupilumab versus placebo in patients with Netherton syndromeA 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 ToulouseNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes
24Phase 2France
3NCT02864082
(ClinicalTrials.gov)
March 8, 20173/8/2016A 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, LLCNULLCompleted12 YearsN/AAll19Phase 2United States
4NCT03041038
(ClinicalTrials.gov)
December 201617/1/2017The 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 SinaiCompleted18 YearsN/AAll21Phase 2United States
5JPRN-jRCTs031180409
25/12/201322/03/2019Treatment 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 applicableBoth158Phase 2Japan
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
6EUCTR2011-000917-38-NL
(EUCTR)
13/09/201309/07/2013CBPR277X2101A 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 AGNULLNot RecruitingFemale: yes
Male: yes
85Germany;Netherlands;France;United States
7EUCTR2011-003212-22-GB
(EUCTR)
03/06/201308/03/2013A 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 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 OfficeNULLNot Recruiting Female: yes
Male: yes
5Phase 1United Kingdom
8EUCTR2011-000917-38-DE
(EUCTR)
14/09/201118/07/2011CBPR277X2101A 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 AGNULLNot RecruitingFemale: yes
Male: yes
85France;United States;Netherlands;Germany
9EUCTR2011-001205-27-NL
(EUCTR)
04/08/201125/07/2011The 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
NULLAuthorised-recruitment may be ongoing or finishedFemale: no
Male: no
Netherlands
10NCT01527318
(ClinicalTrials.gov)
August 201116/1/2012The 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 CenterNULLCompleted18 Years70 YearsBoth6Phase 4Netherlands
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
11NCT01428297
(ClinicalTrials.gov)
May 201119/8/2011A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton SyndromeA 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 SyndromeHealthy Volunteers;Atopic Dermatitis;Netherton SyndromeDrug: BPR277 ointment (controlled application);Drug: Placebo (Vehicle);Drug: BPR277 ointment;Drug: BPR277Novartis PharmaceuticalsNULLCompleted18 Years65 YearsAll12Phase 1United States;Netherlands;France;Germany
12EUCTR2009-015895-87-NL
(EUCTR)
23/12/200901/10/2009Application 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 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 RadboudNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Netherlands
13NCT00004690
(ClinicalTrials.gov)
September 199624/2/2000Phase III Study of Monolaurin Cream Therapy for Patients With Congenital IchthyosisIchthyosisDrug: monolaurin creamCellegy PharmaceuticalsNULLCompleted2 YearsN/ABoth90Phase 3NULL