Clinical trials: Genetics
Cystic Fibrosis
Study of N91115 in Patients With Cystic Fibrosis Homozygous F508del-CFTR Mutation
This Phase 1b study in F508del-CFTR homozygous CF patients is being conducted to assess the safety of N91115 as the sole cystic fibrosis transmembrane conductance regulator (CFTR) modulator at doses near the expected therapeutic…
- Trial name
- SNO4 (NCT02275936)
- Testing
- N91115
- Where
- 19 sites in United States
- Volunteers
- 51 people
- Sponsor
- Nivalis Therapeutics, Inc.
Diabetes Mellitus, Type 2
Project Dulce for Arab Americans With Type 2 Diabetes
Arab Americans (AA) face many challenges in diabetes self-management due to the limited educational resources and support available for them.
- Trial name
- NCT05580536
- Testing
- Project Dulce + Dulce Digital
- Where
- 2 sites in United States
- Volunteers
- 48 people
- Sponsor
- Scripps Whittier Diabetes Institute
Autonomic Function in Patients With Chronic Obstructive Pulmonary Disease
Autonomic Function in Patients With COPD
Conduct an in-depth evaluation of autonomic function using a validated tests, assess genetic aspects of autonomic failure, and determine the correlation between of autonomic function failure and other clinical variables in…
- Trial name
- NCT05667311
- Testing
- ECG
- Where
- Belgium
- Volunteers
- 26 people
- Sponsor
- University Hospital, Ghent
Muscular Dystrophies, Muscle Inflammation
Safety and Efficacy of a Flavonoids- and omega3s-based Compound for the Treatment of Muscular Dystrophies
The study aimed to assess the safety and, partially, the efficacy of dietary supplementation of a flavonoids-, DHA- and EPA-based natural supplement in non-ambulant DMD boys and in a cohort of LGMD and FSHD patients to compare…
- Trial name
- PRO1 (NCT03317171)
- Testing
- Flavonoids, DHA, EPA
- Where
- Italy
- Volunteers
- 29 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Duchenne Muscular Dystrophy (DMD)
DMD and Gamified Physiotherapy
Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular disease that limits children's physical function, mobility, and participation in daily life.
- Trial name
- Gamified DMD (NCT07368400)
- Testing
- Gamified Mobile Physiotherapy Exercise Application, Standard Home Exercise Instructions
- Volunteers
- 46 people
- Sponsor
- Başak Çağla Arslan
Cystic Fibrosis
Tobramycin Administered by eFlow Rapid Nebulizer: Pharmacokinetic Study
This study assesses the aerosol delivery characteristics (measured by nebulization time, serum and sputum tobramycin pharmacokinetic parameters) and safety of tobramycin administered for inhalation by PARI eFlow rapid electronic…
- Trial name
- NCT00420836
- Testing
- Tobramycin
- Volunteers
- 20 people
- Sponsor
- Novartis
Child Development
LIFE Child (LIFE Leipzig Research Centre for Civilization Diseases)
The Leipzig Research Centre for Civilization Diseases (LIFE) Child Study is a prospective longitudinal population-based study with a life course approach to health and disease.
- Trial name
- NCT02550236
- Where
- Germany
- Volunteers
- 7,000 people, healthy volunteers welcome
- Sponsor
- University of Leipzig
Sickle Cell Disease, Venous Thromboembolism
Comparison of Thrombin Generation, Platelet Activation and Aggregation Profiles in Patients With Sickle Cell Disease Depending on Their SS or SC Genotype (DrepAgreg)
Sickle cell disease (SCD) is characterized by chronic hemolytic anemia, painful crises called vaso-occlusive crises (VOC) and chronic inflammation.
- Trial name
- DrepAgreg (NCT07852442)
- Where
- 2 sites in France, Guadeloupe
- Volunteers
- 60 people
- Sponsor
- Centre Hospitalier Universitaire de la Guadeloupe
Fragile X Syndrome
Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome
The objective of this project is to explore the potential of functional near- infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Fragile X Syndrome (FXS) that is still without cure.
- Trial name
- NCT06293027
- Where
- Italy
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Head and Neck Neoplasms, Fibrosis
The Fibrosis-Lymphedema Continuum in Head and Neck Cancer
Goal: The primary goal of this study is to longitudinally investigate, in head and neck cancer (HNC) patients, the potential fibrosis-lymphedema continuum.
- Conditions
- Head and Neck Neoplasms, Fibrosis, Lymphedema, Biomarkers
- Trial name
- NCT01187173
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Vanderbilt University
Epidermolysis Bullosa Dystrophica
Growth Hormone in EB
Growth is extremely affected in epidermolysis bullosa patients
- Trial name
- NCT05390073
- Testing
- growth hormone level and insulin like growth factor 1
- Volunteers
- 50 people
- Sponsor
- Cairo University
Cystic Fibrosis, Glucose Metabolism Disorders
One Year Glargine Treatment in CFRD Children and Adolescents
Glargine treatment can improve the clinical features in Cystic Fibrosis patients affected by glucose derangements
- Trial name
- NCT00483769
- Testing
- Glargine
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Federico II University
Genetic Disorder, Achondroplasia
Special Survey for Long Term Application
This study is conducted in Japan. The aim of this study is to assess the incidence rate of adverse drug reactions (ADRs) when using somatropin (Norditropin®) for treatment of for achondroplasia without epiphyseal line closure…
- Trial name
- NCT01516229
- Testing
- somatropin
- Where
- 2 sites in Japan
- Volunteers
- 395 people
- Sponsor
- Novo Nordisk A/S
Healthy
Genetic Determinants of Response to Beta Blockade
The overall goal of this project is to determine the genetic factors contributing to interindividual differences in response to beta-blockade.
- Trial name
- NCT00837902
- Testing
- Atenolol (β-blocker)
- Where
- United States
- Volunteers
- 154 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University
Bloom Syndrome
Biological Significance of the Bloom's Syndrome Protein
Since 1960, persons with the very rare disorder Bloom's syndrome (BS) have been followed clinically, documenting clinical matters as obtained from their doctors.
- Trial name
- NCT00021437
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Duchenne Muscular Dystrophy
Investigation of the Effects of Functional Inspiratory Muscle Training Applied With Tele-Rehabilitation on Respiratory and Functional Parameters and Quality of Life in Children With Duchenne Muscular Dystrophy: Randomized Controlled Study
Dushenne muscular dystrophy (DMD), which is characterized by the deficiency of dystrophin protein, prevents the muscle from maintaining its normal activity, causing progressive damage to the heart, respiratory muscles and…
- Trial name
- NCT07172737
- Testing
- Respiratory Muscle Training
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people
- Sponsor
- Izmir Katip Celebi University
Familial Hypercholesterolemia
Soy Food Intervention Trial
Familial hypercholesterolemia (FH MIM#143890), an inherited disorder of lipoprotein metabolism, is a risk for early cardiovascular disease (CVD).
- Trial name
- SOYFIT (NCT00924339)
- Testing
- soy protein diet, rapeseed oil
- Where
- Austria
- Volunteers
- 30 people
- Sponsor
- Medical University of Vienna
Eczema Atopic Dermatitis, Eczema
A Double-Blind, Randomized, Vehicle-Controlled Phase 2 Study to Assess the Efficacy and Safety of GX-03 in Adult Subjects With Moderate to Severe Atopic Dermatitis (Eczema)
This is a Phase 2, two-stage, adaptive, 1:1 randomized, double-blind, vehicle-controlled clinical study evaluating the efficacy, safety, and tolerability of GX-03 topical ointment in adult subjects with atopic dermatitis…
- Conditions
- Eczema Atopic Dermatitis, Eczema, Atopic Dermatitis
- Trial name
- GX-03 in AD (NCT07355075)
- Testing
- GX-03, Vehicle
- Where
- United States
- Volunteers
- 190 people
- Sponsor
- Turn Therapeutics
Cystic Fibrosis
Capsule Endoscopy in Cystic Fibrosis
Cystic Fibrosis patients continue to have bowel problems even after adequate pancreatic enzyme supplementation. There may be pathology of the lining of the bowel. Capsule endoscopy will be used to photograph the entire bowel.
- Trial name
- NCT00333957
- Where
- Israel
- Volunteers
- 200 people
- Sponsor
- Hadassah Medical Organization
Wilson Disease, D-Penicillamine
Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity
Wilson's disease is a genetic disorder, resulting from an anomaly present on the ATP7B gene located on chromosome 13, causing a progressive accumulation of copper in various organs such as the liver, nervous system and cornea…
- Conditions
- Wilson Disease, D-Penicillamine, Effect of D-penicilline on Cutaneous Elastity of Wilson's Patient
- Trial name
- WILDERME (NCT06945081)
- Testing
- Preparation of forearm molds with SILFLO® silicone
- Where
- 2 sites in France
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne