Clinical trials: Genodermatosis
Cockayne Syndrome, Skin Neoplasms
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility.
- Conditions
- Cockayne Syndrome, Skin Neoplasms, Xeroderma Pigmentosum, Trichothiodystrophy Syndromes
- Trial name
- NCT00001813
- Where
- United States
- Volunteers
- 709 people
- Sponsor
- National Cancer Institute (NCI)
Epidermolysis Bullosa Simplex, Genodermatosis
A 20-Week Study Assessing the Efficacy of Apremilast in Patients with EB Simplex Generalized
The goal of this clinical trial is to Assessing the Efficacy and Safety of Apremilast in Patients > 6 years of age with EB simplex generalized . The main question it aims to answer are: describe efficacity of this treatment.
- Trial name
- EBULO (NCT06509984)
- Testing
- Apremilast treatment
- Where
- 4 sites in France
- Volunteers
- 20 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Genodermatosis, Rare Genetic Disease With Cutaneous Expression
Method of Genetic Analysis in Genodermatoses
The goal of the study is to develop a method of genetic diagnosis in two stages, by mendelioma then by genome and transcriptome on fibroblast culture, in genodermatoses and rare diseases with cutaneous expression in the child.
- Trial name
- GENODERM (NCT03873285)
- Testing
- Genetic diagnostic by mendeliome or genome
- Where
- Belgium
- Volunteers
- 100 people
- Sponsor
- Queen Fabiola Children's University Hospital
Genetic Skin Disease, Keratosis Follicularis
Study of Scaling Disorders and Other Inherited Skin Diseases
The purpose of this study is to identify the genes responsible for certain scaling disorders and other inherited skin diseases and to learn about the medical problems they cause.
- Conditions
- Genetic Skin Disease, Keratosis Follicularis, Lamellar Ichthyosis
- Trial name
- NCT00001292
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Atopic Dermatitis, Genetic Skin Disease
Epidemiological Survey and Genetic Analysis of AD Patients in Hong Kong
This is a joint research study between The Hong Kong Polytechnic University (PolyU) and The University of Hong Kong (HKU) as titled above.
- Conditions
- Atopic Dermatitis, Genetic Skin Disease, Eczema
- Trial name
- NCT04154839
- Where
- Hong Kong
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
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
Epidermolysis Bullosa, Healthy
Computational Drug Repurposing for All EBS Cases
The study will compare gene expression differences between blistered and non-blistered skin from individuals with all subtypes of EB, as well as normal skin from non-EB subjects.
- Conditions
- Epidermolysis Bullosa, Healthy, Genetic Skin Disease, Epidermolysis Bullosa Simplex
- Trial name
- NCT03269474
- Testing
- Experimental Group
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Joyce Teng