Clinical trials: Genetics
Emphysema, Chronic Obstructive Pulmonary Disease
Emphysema Research Registry and Biosample Repository
The Comprehensive Lung Center (CLC) at the University of Pittsburgh Medical Center (UPMC Health System) provides patients with any type of breathing or lung disorder a full range of diagnostic and therapeutic services.
- Conditions
- Emphysema, Chronic Obstructive Pulmonary Disease, Chronic Bronchitis
- Trial name
- NCT00307281
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Cardiac Amyloidosis, Cardiac Disease
High Resolution Three-dimensional Maps of the Right Chambers in Patient Diagnosed With Cardiac Amyloidosis
Amyloid heart disease is an accumulation of fibrillar proteins in the extracellular sector of the heart. Identified on echocardiography as Ventricular hypertrophy.
- Trial name
- CARTO-AMYLO (NCT04956965)
- Testing
- Cardiac electro-mapping
- Where
- Martinique
- Volunteers
- 24 people
- Sponsor
- University Hospital Center of Martinique
Cystic Fibrosis, Digestive System Disease
A Comprehensive Approach To Relief Of Digestive Symptoms In Cystic Fibrosis: CARDS-CF
Development of a new patient reported outcome measure (PROM) that will measure the daily burden of gastrointestinal symptoms over the previous 24 hour period for people with cystic fibrosis.
- Conditions
- Cystic Fibrosis, Digestive System Disease, Genetic Disease, Respiratory Tract Diseases
- Trial name
- CARDS-CF (NCT05251467)
- Testing
- Focus group, Patient interview (n = approximately 10), Questionnaire (n = 180)
- Where
- United Kingdom
- Volunteers
- 350 people
- Sponsor
- Nottingham University Hospitals NHS Trust
Cystic Fibrosis (CF)
Pharmacokinetics of Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis
The goal of this clinical trial is to support the development of personalized therapy tailored to each patient's individual characteristics.
- Trial name
- NCT07809867
- Testing
- Elexacaftor, Tezacaftor, Ivacaftor, Ivacaftor (VX-770)
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- Istituto Giannina Gaslini
Stargardt, Stargardt's Disease
An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene
This is an Observational Study to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene This is a multicenter study which will enroll approximately 75…
- Conditions
- Stargardt, Stargardt's Disease, Stargardt Disease, STGD1
- Trial name
- POLARIS (NCT06435000)
- Where
- 20 sites in United States, Germany and 1 more
- Volunteers
- 75 people
- Sponsor
- Splice Bio
Cardiomyopathy, Dilated, Bcl-2 Anathogene-3 (BAG3) Dilated Cardiomyopathy (DCM)
A Study About the Natural History in Adults With BAG3 Dilated Cardiomyopathy (a Type of Heart Disease) (BAG3 DCM)
The purpose of this study is to learn about the natural progression of DCM (dilated cardiomyopathy) caused by BAG3 gene mutations. DCM is a condition as the heart muscle is weakened and the heart becomes enlarged.
- Trial name
- NCT05981092
- Where
- 15 sites in United States, Netherlands and 3 more
- Volunteers
- 35 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Attenuated Familial Adenomatous Polyposis, Colorectal Carcinoma
Testing Obeticholic Acid for Familial Adenomatous Polyposis
This phase IIa trial investigates if giving obeticholic acid (OCA) is safe and has a beneficial effect on the number of polyps in the small bowel and colon in patients with familial adenomatous polyposis (FAP).
- Conditions
- Attenuated Familial Adenomatous Polyposis, Colorectal Carcinoma, Duodenal Carcinoma, Familial Adenomatous Polyposis
- Trial name
- NCT05223036
- Testing
- Biopsy Procedure, Biospecimen Collection, Gastrointestinal Endoscopy
- Where
- 7 sites in United States, Puerto Rico
- Volunteers
- 15 people
- Sponsor
- National Cancer Institute (NCI)
Ovarian Cancer
Identification of Genetic, Phenotypic, Clinical, Biological and Histological Factors Differentiating Patients With Ovarian Cancer Who Are Refractory to Platinum-based Therapy From Patients Defined as Long-term Responders to Platinum-based Therapy
After having constituted the ORTRAI cohort using the CONSORE database at the Jean PERRIN Center, the objective is to characterize the patients both clinically and biologically, histologically and genomically.
- Trial name
- ORTRAI (NCT07361471)
- Testing
- molecular analysis
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Centre Jean Perrin
Parkinson Disease
French Parkinson's Disease Cohort - NS-PARK
The aim of NS-PARK cohort are to describe the natural history of Parkinson's disease (PD), and to propose patients stratification models based on PD pathophysiological mechanisms.
- Trial name
- NS-PARK (NCT04888364)
- Where
- France
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Spinal Muscular Atrophy Type I
Study of Safety, Tolerability and Efficacy of GB221 in Infants With Spinal Muscular Atrophy Type 1
GB221 is a gene therapy that delivers a working SMN1 gene to the motor neurons of people with spinal muscular atrophy (SMA) Type 1. This study will evaluate the safety, tolerability and efficacy of GB221 in two groups: 1.
- Trial name
- NCT07070999
- Testing
- GB221
- Where
- Brazil
- Volunteers
- 22 people
- Sponsor
- Gemma Biotherapeutics
Dermatitis, Atopic, Eczema
Comparative Study of Crisaborole vs. Tacrolimus in Atopic Dermatitis
This study will compare the efficacy and safety of crisaborole ointment with tacrolimus ointment, in the treatment of patients with mild-to-moderate atopic dermatitis.
- Trial name
- NCT07367932
- Testing
- Application of crisaborole twice daily, Tacrolimus ointment in atopic dermatitis
- Volunteers
- 30 people
- Sponsor
- Cairo University
Huntington Disease
Longitudinal Endpoint Assessment of Disease Burden in HD
LEAD-HD is intended to collect and analyze self-reported health information from individuals with Huntington Disease (HD) or prodromal HD participating in a 24-month longitudinal natural history study using remote technologies.
- Trial name
- LEAD-HD (NCT06475898)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Huntington Study Group
Retinitis Pigmentosa
Phase 1 Study of Intravitreal Autologous CD34+ Stem Cell Therapy for Retinitis Pigmentosa
In this Phase 1 open-labeled prospective study, one eye of each participant with vision loss from retinitis pigmentosa will be administered intravitreal injection of autologous CD34+ stem cells harvested from bone marrow.
- Trial name
- BMSCRP1 (NCT04925687)
- Testing
- Intravitreal autologous CD34+ cells
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- University of California, Davis
Urea Cycle Disorder, Lysinuric Protein Intolerance
Th1, Th2, Th17 Phenotype in Urea Cycle Disorders
Infection-related hyperammonemia in patients with urea cycle disorders is an important cause of morbidity and mortality. The relationship between immune system cells and the metabolic pathways used by these cells and inborn…
- Trial name
- NCT05706714
- Where
- Turkey (Türkiye)
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Prostate Cancer, Genetic Predisposition
Prostate Tissue BioBank
Prostate cancer is also the most common cancer in men with inherited pathogenic variants in BRCA1 and BRCA2. Beyond BRCA1/2, other genes are known to increase the risk of prostate cancer, including ATM, TP53 and HOXB13.
- Trial name
- PTBB (NCT06659614)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Abramson Cancer Center at Penn Medicine
Hematologic Malignancies, Nonmalignant Diseases
Study of Clofarabine and Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation (HCT)
Fludarabine and clofarabine are chemotherapy drugs used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of clofarabine and…
- Conditions
- Hematologic Malignancies, Nonmalignant Diseases, Immunodeficiencies, Hemoglobinopathies
- Trial name
- NCT03609814
- Testing
- Clofarabine, Fludarabine Injection
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, San Francisco
Fragile X Syndrome
A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome
A Randomized, Double-blind, Placebo-controlled, Parallel Group Study of BPN14770 in Male Adults (Aged 18 to 45) with Fragile X Syndrome
- Trial name
- NCT05358886
- Testing
- BPN14770/ zatolmilast
- Where
- 17 sites in United States
- Volunteers
- 171 people
- Sponsor
- Tetra Discovery Partners
Duchenne Muscular Dystrophy
AFFINITY DUCHENNE: RGX-202 Gene Therapy in Participants With Duchenne Muscular Dystrophy (DMD)
RGX-202 is a gene therapy designed to deliver a transgene for a novel microdystrophin that includes functional elements of naturally-occurring dystrophin including the C-Terminal (CT) domain.
- Trial name
- NCT05693142
- Testing
- RGX-202
- Where
- 23 sites in United States, Canada
- Volunteers
- 65 people
- Sponsor
- REGENXBIO Inc.
Essential Hypertension
Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine
To evaluate the efficacy of Amlodipine-folic Acid Tablets on reduction of blood pressure and plasma homocystein.
- Trial name
- NCT01848873
- Testing
- Amlodipine, amlodipine-FA tablet, low dose group, amlodipine-FA tablet ,high dose group
- Where
- 16 sites in China
- Volunteers
- 756 people
- Sponsor
- Shenzhen Ausa Pharmed Co.,Ltd
Colic, Nephropathy
Neonatal Outcome of Children With Antenatal Colic Hyperechogenicity
Fetal colic hyper-echogenicity is a presenting symptoms for cystinuria lysinuria. A few cases of fetuses with dibasic protein intolerance (more complex prognosis) presented with colic hyper-echogenicity antenatal.
- Trial name
- COLONECHOGENE (NCT04983069)
- Where
- France
- Volunteers
- 400 people
- Sponsor
- University Hospital, Montpellier