30 completed, 9 recruiting, 6 unknown, 3 not yet recruiting. 8 Phase 1, 5 Phase 2, 4 Not applicable, 4 Phase 3, 1 Phase 4.
Follow Ectodermal Dysplasia: new trials by email Literature Review of Ectodermal Dysplasia trials Research Report on Ectodermal Dysplasia
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Epidermal Growth Factor Receptor Inhibition for Keratinopathies Erlotinib - Epidermolytic Ichthyosis, Palmoplantar Keratoderma | Phase 1 / Phase 2 | Not yet recruiting | Northwestern University | 44 | 2027-07-01 | 2026-08-03 |
| Safety, Tolerability, and Efficacy of Oral KM-023 in Adult Patients With Pachyonychia Congenita (pEDD-PC) KM-023 - Pachyonychia Congenita | Phase 2 | Not yet recruiting | Orvida Pharma (formerly Kamari Pharma) | 10 | 2026-12-01 | 2026-10-26 |
| Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics Sturge-Weber Syndrome, Neurocutaneous Syndromes | Not yet recruiting | Assiut University | 100 | 2026-09-20 | 2026-09-28 | |
| Organization's Unique Protocol ID 3-D printed overdenture, Conventional overdenture - Ectodermal Dysplasia | Not applicable | Recruiting | Cairo University | 11 | 2026-02-01 | 2026-03-12 |
| CDH1-associated Blepharocheilodontic Syndrome Registry Blepharocheilodontic Syndrome | Recruiting | Ohio State University | 100 | 2025-06-17 | 2025-08-21 | |
| Institutional Registry of Rare Diseases Rare Diseases, Amyloidosis | Recruiting | Hospital Italiano de Buenos Aires | 380 | 2024-07-01 | 2026-01-14 | |
| Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside Nicotinamide riboside - Ataxia Telangiectasia | Not applicable | Unknown | The University of Queensland | 10 | 2024-05-01 | 2024-04-18 |
| Reproductive Options in Inherited Skin Diseases Ichthyosis, Palmoplantar Keratoses | Enrolling by invitation | Maastricht University Medical Center | 650 | 2024-01-01 | 2025-05-18 | |
| Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling Qualitative interview - Quality of Life, Ichthyosis | Recruiting | Maastricht University Medical Center | 25 | 2024-01-01 | 2025-05-18 | |
| Neurological and Psychological Assessment of Neurocutaneous Syndromes in Upper Egypt Children Neurocutaneous Syndromes | Unknown | Assiut University | 200 | 2023-10-01 | 2023-09-13 | |
| Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) | Completed | Pierre Fabre Medicament | 27 | 2023-07-19 | 2026-10-02 | |
| Assessment of KM-001 - Safety, Tolerability, and Efficacy in Patients With PPPK1 or PC KM-001 cream 1% 12 weeks treatment., Physical Examination, Vital Signs - Punctate Palmoplantar Keratoderma Type 1, Pachyonychia Congenita | Phase 1 | Completed | Orvida Pharma (formerly Kamari Pharma) | 18 | 2023-03-06 | 2025-01-15 |
| A Study Evaluating the Safety and Pharmacokinetics of QTORIN Rapamycin 3.9% Anhydrous Gel in the Treatment of Adults With Pachyonychia Congenita PTX-022 - Pachyonychia Congenita | Phase 3 | Recruiting | Palvella Therapeutics, Inc. | 45 | 2022-11-15 | 2022-12-09 |
| Study Designed to Evaluate Safety and Efficacy of 1% Topical Formulation of KM-001 on Type 1 Punctate Palmoplantar Keratoderma or Pachyonychia Congenita Diseases Serum chemistry, Hematology, Urinalysis - Punctate Palmoplantar Keratoderma Type 1, Pachyonychia Congenita | Phase 1 | Completed | Orvida Pharma (formerly Kamari Pharma) | 14 | 2022-07-17 | 2025-01-07 |
| Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia Actigraphy, Recording of proximal and distal skin temperature and temperature of the bedroom, Questionnaires assessing subjective sleep quality - Hypohidrotic Ectodermal Dysplasia | Not applicable | Completed | Assistance Publique - Hôpitaux de Paris | 22 | 2022-06-10 | 2025-09-12 |
| Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia ER004 - X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) | Phase 2 | Recruiting | EspeRare Foundation | 20 | 2022-04-26 | 2025-04-30 |
| A Multicenter, Phase 3 Randomized, Double-Blind, Vehicle-Controlled Study Evaluating the Safety and Efficacy of QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Pachyonychia Congenita QTORIN 3.9% rapamycin anhydrous gel, Vehicle - Pachyonychia Congenita | Phase 3 | Completed | Palvella Therapeutics, Inc. | 87 | 2021-11-29 | 2024-08-29 |
| Assess the Safety, Tolerability and Pharmacokinetics of AZD5055 Following Single and Multiple Ascending Doses in Healthy Participants AZD5055, Placebo - Idiopathic Pulmonary Fibrosis | Phase 1 | Completed | AstraZeneca | 63 | 2021-11-18 | 2024-05-16 |
| VALO-2: Study Evaluating the Safety and Efficacy of PTX022 in the Treatment of Adults With Pachyonychia Congenita PTX-022 - Pachyonychia Congenita | Phase 3 | Completed | Palvella Therapeutics, Inc. | 36 | 2020-09-01 | 2024-08-29 |
| Pediatric SARS-CoV-2 Infections: Course of COVID-19, Immune Responses, Complications and Long-term Consequences Hypohidrotic Ectodermal Dysplasia | Completed | University Hospital Erlangen | 231 | 2020-06-03 | 2021-08-16 |
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Ectodermal Dysplasia 1, Anhidrotic (21) · Pachyonychia Congenita (13) · Neurocutaneous Syndromes (7) · Tuberous Sclerosis (5) · Keratoderma, Palmoplantar (4) · Albinism (3) · Focal Dermal Hypoplasia (3) · Ichthyosis (3) · Neurofibromatosis 1 (3) · Ataxia (2) · Basal Cell Nevus Syndrome (2) · Birt-Hogg-Dube Syndrome (2) · Cutis Laxa (2) · Epidermolysis Bullosa (2)
Abnormalities, Multiple (54) · Congenital Abnormalities (54) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (54) · Skin Abnormalities (54) · Skin Diseases (54) · Skin Diseases, Genetic (54) · Skin and Connective Tissue Diseases (54) · Genetic Diseases, Inborn (53) · Genetic Diseases, X-Linked (24) · Nail Diseases (13) · Neoplasms (9) · Nervous System Diseases (9) · Neurodegenerative Diseases (9) · Heredodegenerative Disorders, Nervous System (8)
Fc-EDA (3) · Hematologic Tests (2) · Pain Measurement (2) · Physical Examination (2) · Therapeutics (2) · Urinalysis (2) · Vital Signs (2) · 3-(3-ethyl-5-isopropyl-2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carbonyl)-5-methylbenzonitrile (1) · Actigraphy (1) · Azithromycin (1) · Erlotinib Hydrochloride (1) · KPNA1 protein, human (1) · Neuropsychological Tests (1) · Saline Solution (1) · Simvastatin (1)
Edimer Pharmaceuticals (13) · Palvella Therapeutics, Inc. (4) · University Hospital Erlangen (4) · Orvida Pharma (formerly Kamari Pharma) (3) · Assiut University (2) · Maastricht University Medical Center (2) · Pachyonychia Congenita Project (2) · Assistance Publique - Hôpitaux de Paris (1) · AstraZeneca (1) · Baylor College of Medicine (1) · CPL Associates (1) · Cairo University (1) · Dermelix Biotherapeutics, LLC. (1) · EspeRare Foundation (1) · Fondation Ophtalmologique Adolphe de Rothschild (1)
United States (31) · France (9) · Germany (9) · United Kingdom (6) · Italy (4) · Israel (2) · Netherlands (2) · Spain (2) · Argentina (1) · Australia (1) · China (1) · Egypt (1)
Dorothy K Grange, MD (6) · Holm Schneider, MD (5) · Antoni Gostynski, MD, PhD (2) · David Hansen, MD (2) · Joyce Teng, MD (2) · Kenneth Huttner, MD, PhD (2) · Ophir Klein, MD, PhD (2) · Adrian Gadano, MD (1) · Amy Paller (1) · Amy Paller, MD (1) · Ashish K Jain, M.D. (1) · Bernard Cohen, MD (1) · Brigitte Fauroux, MD, PhD (1) · C. David Hansen, MD (1) · Carrie Milliard, CGC (1)
PMID 17546030, PMID 21430705, PMID 21646941, PMID 22264670, PMID 23553579, PMID 25464842, PMID 40739200