Clinical trials: Genetics Syndrome
Cockayne Syndrome
Metabolic Study of Cockayne Syndrome
Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair.
- Trial name
- METABO-CS (NCT03044210)
- Testing
- Metabolic evaluation
- Where
- France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Neurofibromatosis 1
Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial
Background: People with Neurofibromatosis type 1 (NF1) have an increased risk of developing plexiform neurofibromas (PNs). PNs are tumors that form in the tissue. They can form anywhere in the body.
- Trial name
- NCT04879160
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cystic Fibrosis
Hormonal Responses to a Mixed Meal in People With Cystic Fibrosis
In this exploratory study, the hormonal responses to a mixed meal will be examined in people with cystic fibrosis. The aim of this study is to find correlates with impaired glucose tolerance that is associated with this…
- Trial name
- NCT06163482
- Testing
- Mixed meal
- Where
- United States
- Volunteers
- 61 people, healthy volunteers welcome
- Sponsor
- University of Cincinnati
Gout
D-0120 Safety and PK/PD, Food Effect Study in Healthy Volunteers
This initial clinical study in the US will be a randomized, double-blind, placebo-controlled, single-dose, dose-escalation, and sequential cohort study to evaluate the safety, tolerability, PK and PD of D-0120-NA in fasting…
- Trial name
- NCT03291782
- Testing
- D-0120
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- InventisBio Co., Ltd
Adrenoleukodystrophy
Newborn Screening for Adrenoleukodystrophy
To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)
- Trial name
- NCT02952482
- Testing
- newborns testing for ALD
- Where
- Taiwan
- Volunteers
- 45,796 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Chuvash Polycythemia, Cerebrovascular Disease
Pulmonary Hypertension, Hypoxia and Sickle Cell Disease
The study will look at the risk factors for pulmonary hypertension (high blood pressure in the lungs) in children and adolescents with sickle cell anemia (SCA) and examine the role of hypoxia (oxygen shortage) in the disease.
- Conditions
- Chuvash Polycythemia, Cerebrovascular Disease, Pulmonary Hypertension, Sickle Cell Anemia
- Trial name
- NCT00495638
- Where
- 7 sites in United States, Russia
- Volunteers
- 29 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Atopic Dermatitis
Texting Atopic Dermatitis Patients to Optimize Learning and EASI Scores
The purpose of this study is to determine if sending text messages with treatment reminders and facts regarding atopic dermatitis (AD) to caretakers of children with AD will have a positive effect on the disease severity.
- Trial name
- TADPOLES (NCT02779426)
- Testing
- Text messages
- Where
- United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- Columbia University
Methicillin-Resistant Staphylococcus Aureus, Atopic Dermatitis
The Underlying Mechanisms For S. Aureus Infection And Colonization Of Skin in People With Atopic Dermatitis With And Without Eczema Herpeticum (MRSA)
Staphylococcus aureus (S.aureus) is a bacterium that causes many painful skin and soft tissue conditions, such as scalded-skin syndrome, boils, or impetigo.
- Conditions
- Methicillin-Resistant Staphylococcus Aureus, Atopic Dermatitis, Eczema Herpeticum, MRSA
- Trial name
- MRSA (NCT00822276)
- Where
- 2 sites in United States
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Erythropoietic Protoporphyria
Sorbent Therapy of the Cutaneous Porphyrias
The investigators demonstrated that cholestyramine is an effective binding agent in vitro for porphyrins. A few isolated case reports of treatment of individuals with a cutaneous porphyria suggest that cholestyramine and…
- Trial name
- EPP (NCT01422915)
- Testing
- Colestipol
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Urothelial Carcinoma, Lynch Syndrome
Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study)
Lynch syndrome (LS) is an inherited cancer predisposition syndrome caused by pathogenic germline variants in DNA mismatch repair (MMR) genes.
- Trial name
- NCT06218433
- Testing
- Urothelial cancer screening using urine tumor DNA test, Urothelial cancer screening using urine cytology (comparator)
- Where
- 2 sites in Canada, Finland
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Tampere University Hospital
Iron, Abnormal Blood Level, Other Abnormal Blood Chemistry
Fresh Versus Old Red Blood Cells for Transfusion
Packed red blood cell units destined for transfusion can be stored for up to 42 days prior to transfusion based on Food and Drug Administration (FDA) guidelines.
- Trial name
- NCT01319552
- Testing
- Fresh transfusion, Old transfusion
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Columbia University
Cystic Fibrosis (CF), Cardiorespiratory Fitness
Assessment of Static and Dynamic Inspiratory Muscle Strength and Cardiorespiratory Fitness in Adults With Cystic Fibrosis
This study aims to examine and compare static and dynamic inspiratory muscle strength and cardiorespiratory fitness in adults with cystic fibrosis and their healthy peers.
- Conditions
- Cystic Fibrosis (CF), Cardiorespiratory Fitness, Inspiratory Muscle Strength
- Trial name
- NCT07895108
- Where
- Turkey (Türkiye)
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Constipation, Childhood Acute Lymphoblastic Leukemia
Comparison of Gastrointestinal Motility in Healthy Children and Children With Constipation
To gain a better understanding of the underlying dysmotility in constipation in children, we will use a novel minimal invasive method called 3D Transit.
- Conditions
- Constipation, Childhood Acute Lymphoblastic Leukemia, Neurofibromatosis 1, Chronic Constipation With Overflow
- Trial name
- NCT03981510
- Testing
- 3D-Transit
- Where
- Denmark
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Haemophilia
Educational Physiotherapy in Haemophilia
Although arthropathy is a serious problem in patients with hemophilia due to the associated morbidity and incapacity, to the best of the investigators knowledge, no studies have looked at the effect of educational physiotherapy…
- Trial name
- NCT02825706
- Testing
- Educational physiotherapy group
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Real Fundación Victoria Eugenia
Prader-Willi Syndrome
PWS European Blood Bank for Infants and Controls From 0 to 48 Months
The present project aims to determine the underlying mechanisms for the switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in PWS.
- Trial name
- NCT02529085
- Testing
- blood samples
- Where
- 6 sites in Belgium, France and 4 more
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
22q.11.2 Deletion/Duplication
Non-Invasive Chromosomal Evaluation of 22q11.2
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
- Trial name
- 22Q (NCT02541058)
- Where
- Belgium
- Volunteers
- 420 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
Visual Suppression, Amblyopia
Autostereoscopic Dynamic Near Vision Testing
This is an analysis of tests of near vision. Visual perception testing using a novel program on an interactive three dimensional electronic device: Autostereoscopic dynamic near games for monocular visual acuity, stereopsis and…
- Conditions
- Visual Suppression, Amblyopia, Color Vision Defects
- Trial name
- PDICheck (NCT04606355)
- Testing
- Visual Acuity, stereopsis, Color vision
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Alaska Blind Child Discovery
Retinoblastoma
Photoscreening for Retinoblastoma
Retinoblastoma is the most common pediatric eye malignancy and manifests between 1 and 5 years of age. The tumor is most often diagnosed by leukocoria ( white reflex in the pupil).
- Trial name
- NCT04344652
- Testing
- Photoscreening -
- Volunteers
- healthy volunteers welcome
- Sponsor
- Phoenix Children's Hospital
Stargardt Disease 1, STGD1
A Phase 1, First-in-Human Study of CITY-RBP4 in Healthy Volunteers and STGD1 Participants
This is a first-in-human (FIH), multicenter, randomized, double-masked, placebo-controlled adaptive clinical study evaluating the safety, tolerability, pharmacokinetic (PK), and pharmacodynamic (PD) of CITY-RBP4, following…
- Conditions
- Stargardt Disease 1, STGD1, Healthy Volunteers
- Trial name
- NCT07836452
- Testing
- CITY-RBP4
- Where
- Australia
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- City Therapeutics
Hyper-Immunoglobulin E. Syndrome (HEIS), Chronic Granulomatous Disease (CGD)
Skin Immunity Sample Collection Involving Blisters and Biopsies
Background: The way the body heals and protects itself from getting sick is called the immune response. Some people with weak immune systems get sick often or get rashes and skin infections.
- Trial name
- NCT03921515
- Testing
- Blister induction, Skin Biopsies
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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