Clinical trials: Genetic Skin Disease
Atopic Dermatitis
Effects of Lactobacillus Reuteri Plus Vitamin D3 in Children With Atopic Dermatitis
The purpose of this study is to evaluate in a randomized, double-blinded, controlled trial, whether a new food supplement containing Lactobacillus reuteri DSM 17938 and vitamin D3 (Reuterin® D3) may improve the SCORAD in…
- Trial name
- NCT02945683
- Testing
- Reuterin D3
- Where
- Italy
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Noos S.r.l.
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
Dermatitis, Atopic
Intervention Study to Evaluate a Probiotic in Mild Atopic Dermatitis Young Patients
The aim of the study is to evaluate the beneficial effect of a probiotic preparation with an antiinflammatory and modulating activity on immunological processes, with positive results on different inflammatory and atopic…
- Trial name
- NCT02585986
- Testing
- Probiotic
- Where
- Spain
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Biopolis S.L.
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Immune Thrombocytopenia, Thrombotic Thrombocytopenic Purpura
Longitudinal Cohort of Thrombosis and Hemostasis Diseases
This is a multicenter, prospective, longitudinal, observational cohort study to investigate thrombosis and hemostasis diseases in Chinese patients.
- Conditions
- Immune Thrombocytopenia, Thrombotic Thrombocytopenic Purpura, Hemophilia A, Acquired, Disseminated Intravascular Coagulation
- Trial name
- NCT06727669
- Where
- 5 sites in China
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Peking University People's Hospital
Atopic Dermatitis
Skin Tape Transcriptome Methods in Children
This pilot study will evaluate new methods for the collection, storage, shipment, and RNA extraction of skin tape specimens from children with atopic dermatitis (AD) that will facilitate the multi-center SunBeam Birth Cohort…
- Trial name
- NCT04180644
- Testing
- Skin tape strips
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- National Jewish Health
Eczema, Dermatitis, Atopic
Integrative Body-Mind-Spirit Intervention for Families With Children Suffering From Eczema
This randomized controlled trial aims to examine the efficacy of two integrative body-mind-spirit interventions, compared to a health education active control, in promoting adaptive emotional regulation and quality of life of…
- Trial name
- NCT04617977
- Testing
- I-BMS for families with children suffering from eczema, Health education for parents whose children have eczema
- Where
- Hong Kong
- Volunteers
- 192 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Huntington Disease, Hereditary Breast and Ovarian Cancer
Genetic Risk: Whether, When, and How to Tell Adolescents
This study is being conducted to learn more about family communication of genetic risk information. Semi-structured interviews lasting up to one hour will be conducted with three populations: parent/child pairs at risk for…
- Conditions
- Huntington Disease, Hereditary Breast and Ovarian Cancer, Hereditary Cancer, Hereditary Non-polyposis Colon Cancer
- Trial name
- NCT03421327
- Where
- United States
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Hereditary Angioedema Type I and II
Global Registry to Gather Data on Natural History of Patients With Hereditary Angioedema Type I and II
The objective of this international hereditary angioedema (HAE) register is to collect homogeneous clinical and laboratory data on patients with HAE type I and II gathering better information on the natural course of the disease…
- Trial name
- HGR (NCT03828279)
- Testing
- functional and antigenic C1 inhibitor
- Where
- Italy
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- HAE Global Registry Foundation
Melanoma, Skin Cancer
A Model for Genetic Susceptibility: Melanoma
The goal of this study is to find out if some people are more likely to get melanoma, a form of skin cancer, than others are. To do this we will compare people who have had more than one melanoma to people who have had only one…
- Trial name
- NCT00591500
- Testing
- Questionnaire
- Where
- United States
- Volunteers
- 4,082 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Atopic Dermatitis
The Role of Confocal Microscopy in Estimating Dupilumab Treatment Response for Moderate/Severe Atopic Dermatitis
Atopic dermatitis (AD) is recognized as the most prevalent chronic inflammatory skin disease across all age groups. The introduction of reflectance confocal microscopy (RCM) signifies a substantial leap forward in the…
- Trial name
- NCT07098000
- Where
- Argentina
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Hospital Italiano de Buenos Aires
Juvenile Idiopathic Arthritis, Familial Mediterranean Fever
Assessment of Cardiorespiratory Fitness Using the PACER in Patients With Juvenile Idiopathic Arthritis and Familial Mediterranean Fever
Juvenile Idiopathic Arthritis (JIA) and Familial Mediterranean Fever (FMF) are the most common autoimmune and autoinflammatory rheumatic diseases in childhood.
- Conditions
- Juvenile Idiopathic Arthritis, Familial Mediterranean Fever, Healty Controls
- Trial name
- NCT06697028
- Testing
- Usability and Comparison
- Where
- Turkey (Türkiye)
- Volunteers
- 216 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Phenylketonurias
PKU Skin Stripping
PURPOSE OF STUDY: To determine if a non-invasive skin stripping technique can be used to detect individuals with phenylalanine abnormalities, and to monitor dietary and/or drug effects over time.
- Trial name
- NCT04368624
- Testing
- Skin Tape, Blood Draw
- Where
- United States
- Volunteers
- 86 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Hyperbilirubinemia, Jaundice
Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia
The purpose of this study is to compare the demographic, metabolic, and genomic characteristics of patients who develop severe hyperbilirubinemia to patients who never developed a significant bilirubin level.
- Trial name
- NCT00383318
- Testing
- Gene mutation sample
- Where
- United States
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- Pediatrix
Atopic Dermatitis, Eczema
The Effects of Emollient Therapy on the Skin Barrier
The goal of this study is to better understand what effect emollients (moisturizers) have on the skin in young children and adults.
- Trial name
- EES (NCT01291940)
- Testing
- Pediatric Moisturizer, Adult Moisturizer
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Mucopolysaccharidoses
Validation and Reliability of Iris Cameras in Mucopolysaccharidoses
To assess the reliablity and validity of 2 new iris cameras in the assement of corneal opacification in mucopolysaccharidoses
- Trial name
- NCT05354219
- Testing
- Imaging
- Where
- United Kingdom
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Manchester University NHS Foundation Trust
Ehlers-Danlos Syndrome
Registry of Ehlers-Danlos Syndrome
RED is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains…
- Trial name
- RED (NCT04133272)
- Where
- Italy
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Luca Sangiorgi
Atopic Eczema
A Longitudinal Investigation of Skin Barrier Development From Birth and the Validation of Early Predictors of Atopic Eczema Risk: the Skin Testing for Atopic Eczema Risk (STAR) Study
Eczema is a chronic disease of the skin that is becoming more common worldwide for reasons unknown. Currently the best indicator that a baby will suffer from eczema is if either or both parents have the condition, although this…
- Trial name
- STAR (NCT03143504)
- Testing
- Skin Testing for Atopic eczema
- Where
- United Kingdom
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Sheffield Teaching Hospitals NHS Foundation Trust
Systemic Lupus Erythematosus
A Prospective Study of Cyclophosphamide in Systemic Lupus Erythematosus Treatment
The purpose of this study is to compare the genotype-based personal prescription of cyclophosphamide with the traditional prescription.
- Trial name
- SLE (NCT01689350)
- Testing
- Genotype Detection
- Where
- China
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Sun Yat-sen University