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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Phase 2/3 Clinical Study of QRX003 Lotion in Subjects With Netherton SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderRecruitingPhase 2 / Phase 32026-09-28NCT07538583
Patient Study to Evaluate the Safety and Emollient Performance of Doublebase Once in the Treatment of IchthyosisCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, ichthyosis, keratosis, skin disorderNot yet recruitingNot applicable2026-09-08NCT07783165
Clinical Study of QRX003 Lotion in Subjects With Netherton SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderRecruitingPhase 2 / Phase 32026-08-31NCT06953466
Open Label, Safety and Efficacy Study of QRX003 Lotion in Subjects With Netherton SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderRecruitingPhase 2 / Phase 32026-08-31NCT05789056
A Study of the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of BCX17725Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderRecruitingPhase 12026-08-27NCT06539507
Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Infant, Newborn, Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, Urogenital Diseases, adrenal gland disorder, adrenocortical insufficiency, autoimmune disease, brain disorder, central nervous system disorder, central nervous system malformation, endocrine system disorder, hereditary disease, hereditary motor and sensory neuropathy, hypothyroidism, ichthyosis, immune system disorder, inborn error of immunity, inborn errors of metabolism, inherited neurodegenerative disorder, keratosis, kidney disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nephrosis, nephrotic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, skin disorder, sphingolipidosis, thyroid gland disorder, urinary system disorderRecruitingNot stated2026-08-04NCT06669949
Epidermal Growth Factor Receptor Inhibition for KeratinopathiesAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Keratoderma, Palmoplantar, Skin Abnormalities, Skin and Connective Tissue Diseases, ectodermal dysplasia syndrome, epidermolytic ichthyosis, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, nail disorder, pachyonychia congenita, skin disorderNot yet recruitingPhase 1 / Phase 22026-08-03NCT06545695
Study of Skin and Gut Microbiome in a Skin Condition Involving Skin Barrier Impairment and Allergic Symptoms: Netherton SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderRecruitingNot stated2026-06-30NCT07280091
Phase III Clinical Trial of Changji'an Capsules in the Treatment of Irritable Bowel Syndrome With Predominant Diarrhea (Liver-Qi Invading Spleen Syndrome)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorder, superficial epidermolytic ichthyosisNot yet recruitingPhase 32026-05-28NCT07610434
Repurposing Dupilumab for Management of Pruritic Genetic Inflammatory Skin DisordersCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Pathological Conditions, Signs and Symptoms, Pruritus, Signs and Symptoms, Skin Abnormalities, Skin Manifestations, Skin and Connective Tissue Diseases, epidermolysis bullosa, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorder, vesiculobullous skin diseaseRecruitingEarly phase 12026-05-01NCT05649098
Defining the Skin and Blood Biomarkers of IchthyosisAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderEnrolling by invitationNot stated2026-04-27NCT03417856
Evaluate the Evolution of Body and Scalp Skin Discomfort in Patients With Hereditary Ichthyosis After Wraps (EnvelopIchtyose)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, ichthyosis, keratosis, skin disorderRecruitingNot applicable2026-04-13NCT05979506
Lymphocyte Phenotype of Autosomal Recessive Congenital Ichthyoses Mutated NIPAL4 (Nipal4-nEDD)Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Neoplasms by Histologic Type, Sezary syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, T-cell non-Hodgkin lymphoma, autosomal recessive congenital ichthyosis 1, hereditary disease, hereditary skin disorder, ichthyosis, immune system disorder, immunoproliferative disorder, keratosis, lymphatic system disorder, lymphoma, lymphoproliferative syndrome, neoplasm, primary cutaneous T-cell non-Hodgkin lymphoma, skin disorderNot yet recruitingNot stated2026-03-17NCT07477769
Safety, Tolerability and Efficacy of QRX003 Lotion in Subjects With Netherton SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ichthyosiform Erythroderma, Congenital, Infant, Newborn, Diseases, Netherton syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorderActive, not recruitingPhase 2 / Phase 32026-03-16NCT05521438
Transcutaneous Electrical Acustimulation for IBS-D: A Multicenter StudyCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, colonic disorder, digestive system disorder, functional colonic disease, hereditary disease, hereditary skin disorder, ichthyosis, intestinal disorder, irritable bowel syndrome, keratosis, skin disorder, superficial epidermolytic ichthyosisNot yet recruitingNot applicable2026-02-20NCT07425145
FARD (RaDiCo Cohort) (RaDiCo-FARD)Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Conjunctival Diseases, Eye Diseases, Hereditary, Infant, Newborn, Diseases, Keratoderma, Palmoplantar, Neoplasms by Histologic Type, Neoplasms, Nerve Tissue, Nutritional and Metabolic Diseases, Pemphigoid, Benign Mucous Membrane, Skin Abnormalities, Skin and Connective Tissue Diseases, albinism, autoimmune disease, ectodermal dysplasia syndrome, eye disorder, hereditary disease, hereditary neoplastic syndrome, hereditary skin disorder, hypopigmentation of the skin, ichthyosis, immune system disorder, inborn disorder of amino acid metabolism, inborn errors of metabolism, incontinentia pigmenti, inherited epidermolysis bullosa, inherited neurodegenerative disorder, keratosis, metabolic disease, mucous membrane pemphigoid, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuromuscular disease, pemphigus, peripheral nervous system disorder, skin disorder, skin pigmentation disorder, vesiculobullous skin diseaseRecruitingNot stated2026-02-12NCT05954416
Thera-Clean® Microbubbles System in Patients With Skin DiseasesCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hypersensitivity, Immediate, Infant, Newborn, Diseases, Skin Abnormalities, Skin Diseases, Eczematous, Skin Diseases, Papulosquamous, Skin and Connective Tissue Diseases, atopic eczema, dermatitis, epidermolysis bullosa, hereditary disease, hereditary skin disorder, ichthyosis, immune system disorder, keratosis, psoriasis, skin disorder, vesiculobullous skin diseaseEnrolling by invitationEarly phase 12026-02-03NCT07050810
Co-Development and Validation of Colonic Symptom Pictograms for Young PeopleAbdominal Pain, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Flatulence, Infant, Newborn, Diseases, Nausea, Neurologic Manifestations, Pain, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Signs and Symptoms, Digestive, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorder, superficial epidermolytic ichthyosisNot yet recruitingNot stated2026-01-13NCT07337343
Evaluating Whether Intact Fish Skin Graft Can Decrease the Need for Autograft in the Treatment of Deep Partial-Thickness BurnsCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, burn, hereditary disease, hereditary skin disorder, ichthyosis, ichthyosis vulgaris, injury, keratosis, skin disorderEnrolling by invitationPhase 42026-01-08NCT07326657
Saccharomyces Boulardii CNCM I-745 in Irritable Bowel SyndromeCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Infant, Newborn, Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, colonic disorder, digestive system disorder, functional colonic disease, hereditary disease, hereditary skin disorder, ichthyosis, intestinal disorder, irritable bowel syndrome, keratosis, skin disorder, superficial epidermolytic ichthyosisRecruitingPhase 32025-11-18NCT07168434
The Myelin Disorders Biorepository ProjectAbnormalities, Multiple, Aicardi-Goutieres syndrome, Alexander disease, Alexanders leukodystrophy, Allan-Herndon-Dudley syndrome, Bone Diseases, Developmental, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Canavan disease, Cerebral Small Vessel Diseases, Charcot-Marie-Tooth disease, Cockayne syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Digestive System Diseases, Dwarfism, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, GM2 gangliosidosis, Gangliosidoses, Hereditary Central Nervous System Demyelinating Diseases, Infant, Newborn, Diseases, Infarction, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Necrosis, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Pelizaeus-Merzbacher spectrum disorder, Peroxisomal Disorders, Salla disease, Sjogren syndrome, Sjogren-Larsson syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, Stomatognathic Diseases, Sulfatidosis, Urogenital Diseases, X-linked disease, Xerostomia, Zellweger spectrum disorders, adrenal gland disorder, adrenocortical insufficiency, adrenoleukodystrophy, adrenomyeloneuropathy, adult Refsum disease, adult-onset autosomal dominant demyelinating leukodystrophy, alpha-gal syndrome, arthritic joint disease, arthropathy, attention deficit hyperactivity disorder, inattentive type, autoimmune disease, bone disorder, brain disorder, brain infarction, brain ischemia, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral arterial disease, cerebral infarction, cerebrotendinous xanthomatosis, cerebrovascular disorder, connective tissue disorder, cutaneous mucinosis, dementia, demyelinating disease, dry eye syndrome, endocrine system disorder, eye disorder, hereditary disease, hereditary motor and sensory neuropathy, hereditary skin disorder, hypomyelination with brain stem and spinal cord involvement and leg spasticity, ichthyosis, immune system disorder, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, intracranial arterial disease, ischemic disease, keratosis, kidney disorder, lacrimal apparatus disorder, leukodystrophy, leukodystrophy, hypomyelinating, 5, leukodystrophy, hypomyelinating, 6, leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, leukoencephalopathy with calcifications and cysts, leukoencephalopathy with vanishing white matter 1, leukoencephalopathy, diffuse hereditary, with spheroids 1, liver disorder, lysosomal lipid storage disorder, lysosomal storage disease, megalencephalic leukoencephalopathy with subcortical cysts, metabolic disease, metachromatic leukodystrophy, mouth disorder, mucopolysaccharidosis, mucosulfatidosis, musculoskeletal system disorder, nervous system disorder, neurodegeneration with brain iron accumulation 5, neurodegenerative disease, neurodevelopmental disorder, neuromuscular disease, null syndrome, oppositional defiant disorder, peripheral nervous system disorder, polyneuropathy, psychiatric disorder, rheumatic disorder, rheumatoid arthritis, salivary gland disorder, skin disorder, sphingolipidosis, stroke disorder, urinary system disorder, vascular dementia, vascular disorder, xanthomatosisRecruitingNot stated2025-10-23NCT03047369
The Beneficial Effects on the Intestinal Function of a Food Supplement Based on an Extract of Green Tea and a Pool of Probiotics in Subjects With Irritable Bowel Syndrome With Predominance of ConstipationCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorder, superficial epidermolytic ichthyosisRecruitingNot applicable2025-08-05NCT07094035
A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory GenodermatosesCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Infant, Newborn, Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, epidermolysis bullosa, epidermolysis bullosa simplex, hereditary disease, hereditary skin disorder, ichthyosis, keratosis, skin disorder, vesiculobullous skin diseaseRecruitingPhase 22025-08-05NCT06136403
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive CounsellingAbnormalities, Multiple, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cysts, Eye Diseases, Hereditary, Infant, Newborn, Diseases, Jaw Cysts, Jaw Diseases, Keratoderma, Palmoplantar, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, Stomatognathic Diseases, albinism, basal cell carcinoma, basal cell neoplasm, bone disorder, carcinoma, central nervous system malformation, cerebral cortical dysplasia, connective tissue disorder, cutis laxa, ectodermal dysplasia syndrome, epidermolysis bullosa, epithelial neoplasm, eye disorder, hamartoma, hereditary disease, hereditary neoplastic syndrome, hereditary skin disorder, hypopigmentation of the skin, ichthyosis, inborn disorder of amino acid metabolism, inborn errors of metabolism, inherited neurodegenerative disorder, keratosis, metabolic disease, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, nevoid basal cell carcinoma syndrome, odontogenic cyst, skin disorder, skin pigmentation disorder, solitary bone cyst, tuberous sclerosis, vesiculobullous skin diseaseRecruitingNot stated2025-05-18NCT06330350
Reproductive Options in Inherited Skin DiseasesAbnormalities, Multiple, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cysts, DNA repair disease, Eye Diseases, Hereditary, Infant, Newborn, Diseases, Jaw Cysts, Jaw Diseases, Keratoderma, Palmoplantar, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, Stomatognathic Diseases, albinism, basal cell carcinoma, basal cell neoplasm, bone disorder, carcinoma, central nervous system malformation, cerebral cortical dysplasia, connective tissue disorder, cutis laxa, ectodermal dysplasia syndrome, epidermolysis bullosa, epithelial neoplasm, eye disorder, hamartoma, hereditary disease, hereditary neoplastic syndrome, hereditary skin disorder, hypopigmentation of the skin, ichthyosis, inborn disorder of amino acid metabolism, inborn errors of metabolism, inherited neurodegenerative disorder, keratosis, metabolic disease, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, nevoid basal cell carcinoma syndrome, odontogenic cyst, photosensitivity disease, precancerous condition, skin disorder, skin pigmentation disorder, solitary bone cyst, tuberous sclerosis, vesiculobullous skin disease, xeroderma pigmentosumEnrolling by invitationNot stated2025-05-18NCT06330324