Clinical trials: Skin Dysplasia
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
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
Melanoma
Study of GSK2132231A Antigen-Specific Cancer Immunotherapeutic in Patients With Inoperable Metastatic Cutaneous Melanoma
The clinical objective of this clinical trial is to examine the clinical activity in terms of tumor response and time to treatment failure of the immunotherapeutic product GSK2132231A when given to patients with unresectable and…
- Trial name
- NCT00896480
- Testing
- Immunotherapeutic GSK2132231A
- Where
- 8 sites in Belgium, France
- Volunteers
- 24 people
- Sponsor
- GlaxoSmithKline
Hypohidrotic Ectodermal Dysplasia
Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia (HED) is a complex genetic disorder characterized by lack of sweat glands, sparse hair, and missing or malformed teeth.
- Trial name
- NCT01109290
- Where
- Germany
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- University Hospital Erlangen
Dyskeratosis Congenita, Fanconi Anemia
Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
RATIONALE: Studying biopsy, bone marrow, and blood samples from patients with cytopenia that did not respond to treatment may help doctors learn more about the disease and plan the best treatment.
- Conditions
- Dyskeratosis Congenita, Fanconi Anemia, Myelodysplastic Syndromes, Pearson Marrow-pancreas Syndrome
- Trial name
- NCT00499070
- Testing
- polymerase chain reaction, flow cytometry, immunologic technique
- Where
- 10 sites in Austria, Belgium and 8 more
- Volunteers
- 119 people
- Sponsor
- University Hospital Freiburg
Ectodermal Dysplasia
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia
To characterize skin properties in male subjects with HED
- Trial name
- NCT01108770
- Where
- United States
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Rheumatoid Arthritis, Osteoarthritis
A Single Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Ceramic-on-ceramic Bearing in Primary Total Hip Replacement
The purpose of this study is to monitor the performance of the Pinnacle™ Cup with a ceramic-on-ceramic bearing combination in the treatment of patients with hip joint disease requiring a total hip replacement.
- Conditions
- Rheumatoid Arthritis, Osteoarthritis, Post-traumatic Arthritis, Collagen Disorders
- Trial name
- NCT00872222
- Testing
- Pinnacle™ Acetabular System
- Where
- Czechia
- Volunteers
- 98 people
- Sponsor
- DePuy International
Osteoarthritis, Avascular Necrosis
AL-2 MP-1 (Polyimide) Acetabular Liner
M.M.A.TECH Ltd. product is an Acetabular Liner Family produced of an advanced polyimide - MP-1™. M.M.A.TECH Ltd. produces the Liners according to EN ISO 13485:2012 approved manufacturing process and supplies them to the customer.
- Conditions
- Osteoarthritis, Avascular Necrosis, Rheumatoid Arthritis, Congenital Dysplasia of the Hip
- Trial name
- NCT02503891
- Testing
- MP-1 Polymer on Ceramic Articulation system
- Where
- Israel
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- M.M.A Tech Ltd.
X-Linked Hypohidrotic Ectodermal Dysplasia
Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
The proposed natural history study will enroll male and female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an investigational study drug.
- Trial name
- ECP-015 (NCT02099552)
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 150 people
- Sponsor
- Edimer Pharmaceuticals
Osteogenesis Imperfecta
Effects of Bisphosphonates on OI-Related Hearing Loss
Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in…
- Trial name
- NCT04152551
- Testing
- Risedronate Oral Tablet
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital for Special Surgery, New York
Rheumatoid Arthritis, Osteoarthritis
A Study to Assess the Long-term Performance of SmartSet® HV and SmartSet® GHV Bone Cements in Primary Total Hip Replacement
The purpose of this study is to monitor the performance of artificial hip joints implanted with two different bone cements, SmartSet® HV and SmartSet® GHV, in the treatment of patients with hip joint disease requiring a total hip…
- Conditions
- Rheumatoid Arthritis, Osteoarthritis, Post-traumatic Arthritis, Collagen Disorders
- Trial name
- NCT00872066
- Testing
- SmartSet® HV bone cement, SmartSet® GHV bone cement
- Where
- Slovakia
- Volunteers
- 243 people
- Sponsor
- DePuy International
Focal Dermal Hypoplasia
Growth Arrest in Focal Dermal Hypoplasia
Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities.
- Trial name
- NCT02463656
- Volunteers
- 16 people
- Sponsor
- University of Colorado, Denver
Melanoma, Dysplastic Nevi
Family Study of Melanoma in Italy
During the course of a case-control study of melanoma conducted at the Bufalini Hospital, Cesena, Italy in the years 1994-1996, 20 families with 2 or 3 melanoma cases were identified and studied.
- Conditions
- Melanoma, Dysplastic Nevi, Melanocytic Nevi
- Trial name
- NCT00339222
- Where
- 7 sites in Italy, Spain
- Volunteers
- 1,708 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Skeletal Dysplasia, Reverse Overjet
Assessment of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients
The study titled "Reliability Of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients" aims to assess the accuracy and dependability of artificial intelligence (AI) in providing…
- Trial name
- NCT06002373
- Where
- Egypt
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Cairo University
Urothelial Carcinoma, Melanoma
SAbR Induced Innate Immunity in Urothelial Carcinoma, Melanoma, and Cervical Carcinoma
The study is an exploratory prospective, single center study with correlative endpoints. The study will investigate the association of tumor cGAS STING signaling with SAbR.
- Conditions
- Urothelial Carcinoma, Melanoma, Cervical Carcinoma in Situ
- Trial name
- NCT02986867
- Testing
- SAbR Treatment of Lesions
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- University of Texas Southwestern Medical Center
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
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
Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children.
- Trial name
- NCT01707433
- Testing
- Enzyme testing
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Children's Hospitals and Clinics of Minnesota
Rheumatoid Arthritis, Osteoarthritis
A Multi-centre Study to Assess the Long-term Performance of the DePuy PROXIMA™ Hip in Primary Total Hip Replacement
The purpose of this study is to monitor the performance of the DePuy PROXIMA™ hip in the treatment of patients with hip joint disease requiring a total hip replacement.
- Conditions
- Rheumatoid Arthritis, Osteoarthritis, Post-traumatic Arthritis, Avascular Necrosis
- Trial name
- NCT00208455
- Testing
- DePuy Proxima™ Hip
- Where
- 4 sites in Germany, Italy and 2 more
- Volunteers
- 184 people
- Sponsor
- DePuy International
Hyper-IgM Syndrome, Ectodermal Dysplasia
Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of improving the diagnosis and treatment of patients. The specific disorders include: 1.
- Trial name
- NCT00266513
- Where
- United States
- Volunteers
- 119 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)