Clinical trials: Xeroderma Pigmentosum, open to volunteers
Ichthyosis, Palmoplantar Keratoses
Reproductive Options in Inherited Skin Diseases
The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of…
- Conditions
- Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia
- Trial name
- REPRO-ISD (NCT06330324)
- Where
- Netherlands
- Volunteers
- 650 people
- Sponsor
- Maastricht University Medical Center
Artemis (DCLRE1C ) Deficient Severe Combined Immunodeficiency
Safety and Efficacy Study of Transplantation of Autologous CD34+ Cells Transduced With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA in Artemis (DCLRE1C) Deficient Severe Combined Immunodeficiency Patients (ARTEGENE)
The purpose of this study is to evaluate the Safety and Efficacy of Gene Therapy of the severe combined immunodeficiency (SCID) caused by mutations in the human DCLRE1C gene (Artemis) by transplantation of a single dose of…
- Trial name
- ARTEGENE (NCT05071222)
- Testing
- ARTEGENE drug product
- Where
- France
- Volunteers
- 7 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
DNA Repair Disorder, Cockayne Syndrome
Natural History Study for DNA Repair Disorders
This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders…
- Conditions
- DNA Repair Disorder, Cockayne Syndrome, Xeroderma Pigmentosum, Trichothiodystrophy
- Trial name
- NCT05484570
- Testing
- Interval History, Physical Examination, ECAB Assessment
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Minnesota