Clinical trials: Genetic Diseases, open to volunteers
Pulmonary Fibrosis
Genetic Polymorphisms in Idiopathic Pulmonary Fibrosis (IPF)
The purposes of this study are: to determine if there are specific genetic traits that might explain why patients have developed pulmonary fibrosis; to determine if specific genetic traits account for differing patterns of…
- Trial name
- GP (NCT00258570)
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- University of Pittsburgh
Angelman Syndrome
Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide.
- Trial name
- EYEANGEL (NCT06737718)
- Testing
- Eye tracking, Data collection from patients' medical files, questionnaires
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fragile X Syndrome, Autism Spectrum Disorder
Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders
Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals.
- Conditions
- Fragile X Syndrome, Autism Spectrum Disorder, Autistic Disorder, Asperger Syndrome
- Trial name
- ENTRAIN (NCT06227780)
- Testing
- Alpha Auditory Entrainment
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Heart Failure With Reduced Ejection Fraction
Study Assessing Left Ventricular Administration of a Genetic Medicine Directing Organ Regeneration in Heart Failure
This clinical trial investigates the safety and preliminary effectiveness of YAP101, a gene therapy designed to improve heart function in adults with ischemic heart failure and reduced ejection fraction (HFrEF).
- Trial name
- SALVADOR-HF (NCT06831825)
- Testing
- YAP101 (AAV9-Sav-shRNA)
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Medley Therapeutics
Hemophilia A, Prophylaxis of Bleeding
A Study to Learn More About the Safety of Damoctocog-alfa-pegol When Used in Routine Medical Care in Korean Participants With Hemophilia A
In this study, researchers will observe and study the data from participants with hemophilia A who receive damoctocog alfa pegol as prescribed by their doctors.
- Conditions
- Hemophilia A, Prophylaxis of Bleeding, Treatment of Bleeding
- Trial name
- NCT06222697
- Testing
- Damoctocog-alfa-pegol (Jivi, BAY94-9027)
- Where
- South Korea
- Volunteers
- 20 people
- Sponsor
- Bayer
Dilated Cardiomyopathy, Single-center Study
Cardiac Magnetic Resonance for Risk Stratification in Dilated Cardiomyopathy
Dilated cardiomyopathy (DCM) is an increasingly recognized cause of morbidity and mortality with heterogenous etiologies (eg, genetic, environment) and clinical manifestations, characterized by left ventricular (LV) systolic…
- Trial name
- NCT04990297
- Where
- China
- Volunteers
- 2,500 people
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Colorectal Cancer, Early Onset Colorectal Cancer
Exogenous and Endogenous Risk Factors for Early-onset Colorectal Cancer
An increase in early-onset colorectal cancers (eoCRC), defined as a CRC before 50 years, is confirmed globally. CRC pathogenesis has been associated with several risk factors (family history, germline pathogenic variants…
- Conditions
- Colorectal Cancer, Early Onset Colorectal Cancer, Diet Habit, Risk Reduction
- Trial name
- DEMETRA (NCT05732623)
- Testing
- Semi Quantitative Food Frequency Questionnaire (SQFFQ)
- Where
- 8 sites in United States, Finland and 4 more
- Volunteers
- 2,300 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
Atopic Dermatitis (AD), Atopic Dermatitis (Eczema)
Reflectance Confocal Microscopy Evaluation of Skin Structure of Patients With Atopic Dermatitis Under Nemolizumab
Atopic dermatitis (AD) is a chronic inflammatory skin disease with pruritus and recurrence of eczematous eruptions. Evaluation of response to treatment are only clinical using Eczema Area Severity Index (EASI), SCOring of Atopic…
- Trial name
- NEMOSKIN (NCT07730788)
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Hôpitaux Drôme Nord
Pancreas Cancer, Pancreatitis
Pancreas Registry and High Risk Registry
The purpose of this study is to establish a registry of patients with pancreatic diseases. Patients included in the registry may include those with: pancreatic cancer, precancerous lesions of the pancreas, inflammatory lesions of…
- Conditions
- Pancreas Cancer, Pancreatitis, Chronic Pancreatitis, Pancreatic Cyst
- Trial name
- NCT02775461
- Where
- 2 sites in United States
- Volunteers
- 1,368 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Phenylketonuria (PKU)
A Study of MZE782 in Adults With PKU
The purpose of this study is to evaluate the safety, tolerability, and efficacy of MZE782 in adults with Phenylketonuria (PKU).
- Trial name
- CIPheR (NCT07694440)
- Testing
- MZE782
- Where
- 9 sites in United States, France and 1 more
- Volunteers
- 38 people
- Sponsor
- Maze Therapeutics
Sickle Cell Disease
Development and Evaluation of an Information Management System and Communication System for Population-wide Point-of-care Infant Sickle Cell Disease Screening
Although over 75% of children with sickle cell disease (SCD) are born in sub-Sahara where the disease highly contributes to under-5 mortality and causes life-long debilitation, evidence-based strategies to control SCD are not…
- Trial name
- SIMCS SCD (NCT06563440)
- Testing
- Digital app and information system
- Where
- 2 sites in United States, Uganda
- Volunteers
- 24,000 people, healthy volunteers welcome
- Sponsor
- Makerere University
Acute Liver Failure, Wilson Disease
Daily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in Children
Wilson disease in children has a varied presentation. Wilson disease with acute liver failure is associated with very high mortality and morbidity.
- Trial name
- NCT06698991
- Testing
- Plasma Exchange, Standard Medical Treatment
- Where
- India
- Volunteers
- 20 people
- Sponsor
- Institute of Liver and Biliary Sciences, India
Angelman Syndrome
Angelman Syndrome Natural History Study
The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be…
- Trial name
- NCT04507997
- Where
- 11 sites in United States, Canada
- Volunteers
- 300 people
- Sponsor
- Boston Children's Hospital
Sezary Syndrome, Ichthyosis, Lamellar
Lymphocyte Phenotype of Autosomal Recessive Congenital Ichthyoses Mutated NIPAL4 (Nipal4-nEDD)
Autosomal recessive congenital ichthyoses (ARCI) are monogenic diseases of cornification that correspond to a diffuse abnormality (affecting the entire integument) of epidermal differentiation and therefore of the skin barrier.
- Trial name
- NIPALYMPHO (NCT07477769)
- Testing
- blood sampling
- Volunteers
- 10 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Obesity
Weight Loss Study: Genetics and Response to Naltrexone/Bupropion
The goal of this clinical trial is to understand if genetic variations are associated with the amount of weight loss with diet and while taking an FDA-approved medication for weight loss.
- Trial name
- NCT05919797
- Testing
- Naltrexone-Bupropion Combination
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- Columbia University
Colorectal Cancer
FITting Non-invasive Tests in Lynch Syndrome Surveillance
The purpose of this clinical study is to evaluate the accuracy of the fecal immunochemical test (FIT) in comparison to colonoscopy in patients with Lynch Syndrome (LS) who are undergoing colonoscopy surveillance.
- Trial name
- NCT06898996
- Testing
- Fecal immunochemical test
- Where
- 3 sites in United States
- Volunteers
- 400 people
- Sponsor
- University of Chicago
Genetic of Intellectual Deficiency, Autism Spectrum Disorder
Genetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA)
The aim of this observational study is to develop an alternative database model for genetically originated intellectual disabilities.
- Trial name
- RaDiCo-GenIDA (NCT06871696)
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
The purpose of this study is to evaluate the safety, efficacy, pharmacokinetics (PK), and pharmacodynamics (PD) of atumelnant treatment in pediatric participants with classic congenital adrenal hyperplasia (CAH).
- Trial name
- NCT07159841
- Testing
- Atumelnant
- Where
- 52 sites in United States, Argentina and 11 more
- Volunteers
- 153 people
- Sponsor
- Crinetics Pharmaceuticals Inc.
Neurogenetic Diseases
Advancing Neurogenetic Diagnoses Through Long-Read Sequencing
Nucleotide repeats emerge as one of the most prolific classes of genetic variations. They have the propensity to in-crease in length across generations, and have been implicated in at least 65 known neurological/…
- Trial name
- NRGEN-NGS3 (NCT07665554)
- Testing
- Skin biopsy, blood sampling
- Where
- 2 sites in France
- Volunteers
- 304 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
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