ectodermal dysplasia syndrome
ectodermal dysplasia syndrome
Explore linked clinical trials. Standard reference: MONDO:001928713 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Skin Abnormalities, Skin and Connective Tissue Diseases, Sturge-Weber syndrome, angiomatosis, cardiovascular disorder, central nervous system malformation, cerebral cortical dysplasia, ectodermal dysplasia syndrome, hamartoma, hemangioma, hereditary disease, hereditary neoplastic syndrome, hereditary skin disorder, inherited neurodegenerative disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuromuscular disease, peripheral nervous system disorder, skin disorder, tuberous sclerosis, vascular cancer, vascular disorder | Not yet recruiting | Not stated | 2026-09-28 | NCT07843823 | |
| Epidermal Growth Factor Receptor Inhibition for Keratinopathies | Abnormalities, 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 disorder | Not yet recruiting | Phase 1 / Phase 2 | 2026-08-03 | NCT06545695 | |
| Study of Selected X-linked Disorders: Goltz Syndrome | Abnormalities, Multiple, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, bone disorder, dysostosis, ectodermal dysplasia syndrome, focal dermal hypoplasia, hereditary disease, hereditary skin disorder, musculoskeletal system disorder, skin disorder | Active, not recruiting | Not stated | 2026-05-01 | NCT00691223 | |
| Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, aplasia cutis congenita, ectodermal dysplasia syndrome, hereditary disease, hereditary skin disorder, skin disorder | Recruiting | Not stated | 2026-04-15 | NCT01630421 | |
| Organization's Unique Protocol ID | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, ectodermal dysplasia syndrome, hereditary disease, hereditary skin disorder, skin disorder | Recruiting | Not applicable | 2026-03-12 | NCT07468019 | |
| 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 disease | Recruiting | Not stated | 2026-02-12 | NCT05954416 | |
| Institutional Registry of Rare Diseases | Abnormalities, Multiple, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cushing syndrome, Digestive System Abnormalities, Digestive System Diseases, Disease Attributes, Eosinophilia, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Gaucher disease, Hemic and Lymphatic Diseases, Hereditary Complement Deficiency Diseases, Hirschsprung disease, Hypersensitivity, Delayed, Hypersensitivity, Immediate, Immunoglobulin G4-Related Disease, Imprinting Disorders, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Mast Cell Activation Disorders, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Primary Immunodeficiency Diseases, Rare Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, Urogenital Abnormalities, Urogenital Diseases, Wilson disease, adrenal gland disorder, adrenal gland hyperfunction, adrenogenital syndrome, amyloidosis, angioedema, angiomatosis, aortic valve disorder, aortic valve stenosis, autoimmune disease, basal ganglia disorder, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, chromosomal disorder, colonic disorder, congenital adrenal hyperplasia, connective tissue neoplasm, demyelinating disease, digestive system disorder, disorder of sexual differentiation, ectodermal dysplasia syndrome, endocrine system disorder, eosinophilic esophagitis, esophageal disorder, esophagitis, gastroenteritis, gonadal disorder, heart disorder, heart valve disorder, hematologic disorder, hemorrhagic disease, hereditary angioedema, hereditary disease, hereditary hemorrhagic telangiectasia, hereditary neoplastic syndrome, hereditary skin disorder, hypertensive disorder, hypertrophic cardiomyopathy, immune system disorder, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inflammatory bowel disease, inherited neurodegenerative disorder, intellectual disability, intestinal disorder, leukocyte disorder, liver disorder, lung disorder, lymphatic system disorder, lymphoproliferative syndrome, lysosomal lipid storage disorder, lysosomal storage disease, malignant endocrine neoplasm, mastocytosis, megacolon, metabolic disease, movement disorder, multiple endocrine neoplasia, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuroendocrine neoplasm, nutritional disorder, obesity disorder, overnutrition, paraganglioma, pheochromocytoma, primitive neuroectodermal tumor, proteostasis deficiencies, pulmonary hypertension, respiratory system disorder, sarcoidosis, skin disorder, skin vascular disease, sphingolipidosis, steroid inherited metabolic disorder, subvalvular aortic stenosis, telangiectasis, urticaria, vascular disorder, vascular hemostatic disease, vascular malformation, von Hippel-Lindau disease | Recruiting | Not stated | 2026-01-14 | NCT06573723 | |
| CDH1-associated Blepharocheilodontic Syndrome Registry | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Mouth Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, Stomatognathic Diseases, Stomatognathic System Abnormalities, blepharocheilodontic syndrome, cleft lip, ectodermal dysplasia syndrome, hereditary disease, hereditary skin disorder, lip disorder, mouth disorder, skin disorder | Recruiting | Not stated | 2025-08-21 | NCT07133464 | |
| Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling | Abnormalities, 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 disease | Recruiting | Not stated | 2025-05-18 | NCT06330350 | |
| Reproductive Options in Inherited Skin Diseases | Abnormalities, 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 pigmentosum | Enrolling by invitation | Not stated | 2025-05-18 | NCT06330324 | |
| Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ectodermal Dysplasia 1, Anhidrotic, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, ectodermal dysplasia syndrome, hereditary disease, hereditary skin disorder, skin disorder | Recruiting | Phase 2 | 2025-04-30 | NCT04980638 | |
| A Study Evaluating the Safety and Pharmacokinetics of QTORIN Rapamycin 3.9% Anhydrous Gel in the Treatment of Adults With Pachyonychia Congenita | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Abnormalities, Skin and Connective Tissue Diseases, ectodermal dysplasia syndrome, hereditary disease, hereditary skin disorder, nail disorder, pachyonychia congenita, skin disorder | Recruiting | Phase 3 | 2022-12-09 | NCT05643872 | |
| International Pachyonychia Congenita Research Registry | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cysts, Neurologic Manifestations, Pain, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Skin Abnormalities, Skin and Connective Tissue Diseases, ectodermal dysplasia syndrome, hereditary disease, hereditary skin disorder, leukoplakia, nail disorder, neoplasm, pachyonychia congenita, precancerous condition, skin disorder | Recruiting | Not stated | 2018-11-21 | NCT02321423 |