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
Epidermolysis Bullosa Simplex, Pachyonychia Congenita
Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin
Adult participants will apply a broccoli sprout extract-jojoba oil compound to one arm every night under occlusion for 1 week. Jojoba oil alone will be applied to the other arm.
- Trial name
- NCT02592954
- Testing
- Jojoba oil with broccoli sprout extract
- Where
- United States
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Pachyonychia Congenita
Safety, Tolerability, and Efficacy of Oral KM-023 in Adult Patients With Pachyonychia Congenita (pEDD-PC)
The goal of this clinical trial is to learn if KM-023 is safe and well tolerated in adults with Pachyonychia Congenita (PC). The study will also explore whether KM-023 may help reduce pain, improve mobility, and lessen the impact…
- Trial name
- NCT07893483
- Testing
- KM-023
- Where
- 2 sites in Israel
- Volunteers
- 10 people
- Sponsor
- Orvida Pharma (formerly Kamari Pharma)
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
Pachyonychia Congenita
VALO-2: Study Evaluating the Safety and Efficacy of PTX022 in the Treatment of Adults With Pachyonychia Congenita
VALO-2 is a multicenter, open-label extension (OLE) study enrolling patients with genotyped keratin mutations KRT6A, KRT6B and KRT16 who were previously treated with investigational PTX-022 during the VALO study.
- Trial name
- VALO-2 (NCT04520750)
- Testing
- PTX-022
- Where
- 4 sites in United States
- Volunteers
- 36 people
- Sponsor
- Palvella Therapeutics, Inc.
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
Renal Cell Carcinoma, Hepatocellular Carcinoma
Effect of Sorafenib or Regorafenib on P63 Expression and Keratinocyte Differentiation in Human Skin
Skin toxicity is a frequently observed side effect in the era of "molecularly targeted therapies". Skin toxicity following administration of protein kinase inhibitors such as sorafenib, regorafenib, lapatinib, sunitinib, and…
- Conditions
- Renal Cell Carcinoma, Hepatocellular Carcinoma, Colorectal Carcinoma
- Trial name
- NCT01466504
- Testing
- skin punch biopsy
- Where
- 2 sites in United States
- Volunteers
- 4 people
- Sponsor
- Dartmouth-Hitchcock Medical Center
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)
Hypohidrotic Ectodermal Dysplasia, X-Linked Hypohidrotic Ectodermal Dysplasia
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey
In this survey of X-Lined Hypohidrotic Ectodermal Dysplasia (XLHED) carrier females, Edimer proposes to review responses to an XLHED Carrier Outlook toward Reproduction Survey in order to understand attitudes toward reproduction…
- Trial name
- X-CORS (NCT01398813)
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Edimer Pharmaceuticals