Clinical trials: Ectodermal Dysplasia
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Tuberous Sclerosis Complex
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction…
- Trial name
- NCT04112537
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Montpellier
X-linked Hypohidrotic Ectodermal Dysplasia
Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a complex genetic disorder characterized by lack of sweat, sebaceous, submucous, Meibomian and mammary glands, sparse hair and eyebrows, and oligodontia.
- Trial name
- NCT01308333
- Where
- Germany
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- University Hospital Erlangen
Blepharocheilodontic Syndrome
CDH1-associated Blepharocheilodontic Syndrome Registry
The aim of the CDH1-associated Blepharocheilodontic Syndrome (BCDS) registry is to better characterize the clinical features of this condition and exploring whether CDH1 variants linked to BCDS may also increase cancer risk.
- Trial name
- NCT07133464
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Ohio State University
Hypohidrotic Ectodermal Dysplasia
Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
This study in affected Hypohidrotic Ectodermal Dysplasia (HED) males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and…
- Trial name
- NCT01386775
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia
Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status
The investigators propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for Hypohidrotic Ectodermal Dysplasia (XLHED).
- Trial name
- ECP-013 (NCT01629940)
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Hypohidrotic Ectodermal Dysplasia, X-Linked Hypohidrotic Ectodermal Dysplasia
Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype
This study is being done to collect information about people who have or may have Hypohidrotic Ectodermal Dysplasia (HED) or X-linked Hypohidrotic Ectodermal Dysplasia (XLHED).
- Trial name
- ECP-006 (NCT01398397)
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Edimer Pharmaceuticals
Neurocutaneous Syndromes
Neurological and Psychological Assessment of Neurocutaneous Syndromes in Upper Egypt Children
Evaluation of neurological and psychological complications in children diagnosed as neurocutaneous syndromes in upper Egypt
- Trial name
- NCT06033768
- Volunteers
- 200 people
- Sponsor
- Assiut University
Ectodermal Dysplasia
Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63
Ectodermal dysplasia associated with p63 is a rare disease which, in addition to limbic abnormalities, primarily affects the skin and cornea.
- Trial name
- PRIMAculture (NCT02896387)
- Where
- 2 sites in France
- Volunteers
- 5 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
X-linked Hypohidrotic Ectodermal Dysplasia
Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
The goal of the ECP-002e extension study is to continue the evaluation of all EDI200-treated ECP-002 subjects up to age 10 yrs. No additional study drug administration is planned.
- Trial name
- ECP-002e (NCT01992289)
- Testing
- EDI200
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 10 people
- Sponsor
- Edimer Pharmaceuticals
Focal Dermal Hypoplasia (FDH), Goltz Syndrome
Study of Selected X-linked Disorders: Goltz Syndrome
Focal dermal hypoplasia, or Goltz syndrome, results from genetic changes, or mutations in the PORCN gene located on the X chromosome.
- Trial name
- NCT00691223
- Where
- United States
- Volunteers
- 84 people
- Sponsor
- Baylor College of Medicine
Aplasia Cutis Congenita
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
- Trial name
- ACC (NCT01630421)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
Pachyonychia Congenita
Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC)
A study to evaluate safety and efficacy of topical sirolimus to treat plantar keratoderma in adults with PC. Subjects may receive either placebo or treatment with at least 1 foot receiving topical sirolimus at some time.
- Trial name
- NCT02152007
- Testing
- 1% sirolimus cream (TD201 1%)
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- TransDerm, Inc.
X-Linked Hypohidrotic Ectodermal Dysplasia
Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
This Phase 2 first-in-neonate EDI200 study will enroll treatment-naïve, XLHED-affected male newborns in the first two weeks of life.
- Trial name
- ECP-002 (NCT01775462)
- Testing
- EDI200
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 6 people
- Sponsor
- Edimer Pharmaceuticals
Ectodermal Dysplasia, Jaw, Edentulous
Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects
The amendment to Clinical Protocol 86-D-0015, clinical study of Oral Endosseous Titanium Implants in Edentulous subjects, and patients with Ectodermal Dysplasia is to allow the Investigators to determine: (1) If placement of…
- Trial name
- NCT00001211
- Where
- United States
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Inherited Epidermolysis Bullosa, Ichthyosis
FARD (RaDiCo Cohort) (RaDiCo-FARD)
The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical)…
- Conditions
- Inherited Epidermolysis Bullosa, Ichthyosis, Ectodermal Dysplasia, Incontinentia Pigmenti
- Trial name
- FARD (NCT05954416)
- Where
- 15 sites in France
- Volunteers
- 900 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Hypohidrotic Ectodermal Dysplasia
Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia
The aim of the study is to compare sleep efficiency by means of actigraphy in patients with hypohidrotic ectodermal dysplasia with healthy controls.
- Trial name
- DEH-Somno (NCT05378932)
- Testing
- Actigraphy, Recording of proximal and distal skin temperature and temperature of the bedroom, Questionnaires assessing subjective sleep quality
- Where
- France
- Volunteers
- 22 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study
This is an observational, multicentre, international study over a 2-year follow-up period. The aim of this study is to understand how XLHED affects the lives of young male patients and their families over time.
- Trial name
- EdeReaLife (NCT07096206)
- Where
- 2 sites in France, Germany
- Volunteers
- 27 people
- Sponsor
- Pierre Fabre Medicament
Quality of Life, Ichthyosis
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of…
- Conditions
- Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa
- Trial name
- NCT06330350
- Testing
- Qualitative interview
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
Pachyonychia Congenita
International Pachyonychia Congenita Research Registry
International Pachyonychia Congenita Research Registry (IPCRR) is a patient registry for those suffering from Pachyonychia Congenita (PC).
- Trial name
- IPCRR (NCT02321423)
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Pachyonychia Congenita Project