Clinical trials: Genetic Disorders
Phenylketonuria (PKU)
Brain Aging in Phenylketonuria
Background: Historically, the primary goal in managing phenylketonuria (PKU) has been to prevent severe and irreversible intellectual disability, as well as to address nutritional deficiencies that could lead to growth…
- Trial name
- NCT06969209
- Where
- Switzerland
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Heart Disease, Physical Frailty
Genetics and Epidemiology of Aging Associated Conditions in the Sardinian Population
Background: The island of Sardinia, an Italian region, has a population that is highly interrelated. Researchers have developed the SardiNIA longitudinal study to examine the possible genetic factors that predispose individuals…
- Conditions
- Heart Disease, Physical Frailty, Exaggerated Personality Traits
- Trial name
- NCT00182949
- Where
- Italy
- Volunteers
- 6,926 people, healthy volunteers welcome
- Sponsor
- National Institute on Aging (NIA)
Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 7
Integrated Functional Evaluation of the Cerebellum
One of the main objectives of this project is to validate potential biological, clinical and/or imaging biomarkers in SCA patients through a multimodal assessment, for future ASOs trials.
- Trial name
- CERMOI (NCT04288128)
- Testing
- Lumbar puncture, Magnetic Resonance Imaging (MRI)
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Monoclonal Gammopathy of Undetermined Significance
MGUS/MM Awareness and Genetics Insights Campaign (MAGIC) Screening Study
This study is being done to screen adults for MGUS and to better understand the genetic and immune factors linked to this condition.
- Trial name
- MAGIC (NCT06472830)
- Testing
- Non-Interventional Study
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Wrinkles, Rhytids
Evaluation of the Ulthera® System for Treatment of the Face and Neck
Up to 15 subjects will be enrolled. Enrolled subjects will receive one Ulthera® treatment on the face and neck. Follow-up visits will occur at 45, 90 and 180 days post-treatment.
- Conditions
- Wrinkles, Rhytids, Skin Laxity
- Trial name
- NCT01713907
- Testing
- Ulthera® Treatment
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Ulthera, Inc
Sickle Cell Disease, Sickle Cell Trait
Sickle Cell Hemoglobinopathies and Bone Health
This research study has two purposes. The first purpose is to determine whether having sickle cell trait (SCT) is a risk factor for the development of bone thinning at an earlier age than expected.
- Trial name
- NCT02306993
- Testing
- Healthy volunteers without SCT, Healthy volunteers with SCT, Volunteers with SCD
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- UConn Health
Cancer, Breast, Cancer, Ovarian
Family History App in Personalized Medicine
A complete family history (FH) may identify persons at high risk for certain conditions. They can be offered genetic testing and life-saving screening and treatment.
- Conditions
- Cancer, Breast, Cancer, Ovarian, Cancer, Colorectal, Cancer, Prostate
- Trial name
- FHAMe (NCT04726319)
- Testing
- FHAMe Intervention
- Where
- Canada
- Volunteers
- 627 people, healthy volunteers welcome
- Sponsor
- University of Toronto
Alzheimers Disease, Dementia
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia: A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation
The purpose of this study is to assess the safety, tolerability, biomarker, cognitive and clinical efficacy of investigational products in participants with an Alzheimer's disease-causing mutation by determining if treatment with…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT06424236)
- Testing
- Gantenerumab
- Where
- 17 sites in United States, Australia and 4 more
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Autosomal Aneuploidy
Feasibility Study of a New Screening Program for Major Aneuploidies (T21, T18, T13) in the Emilia-Romagna Region (SAPERER)
The study is promoted by the Emilia Romagna Region which identified in the Bologna AUSL the coordinating center (Unità Operativa Complessa Laboratorio Unico Metropolitano, LUM, Maggiore Hospital).
- Trial name
- SAPERER (NCT04437992)
- Testing
- NIPT
- Where
- Italy
- Volunteers
- 7,000 people, healthy volunteers welcome
- Sponsor
- Azienda Usl di Bologna
Hereditary Hemochromatosis
A Study to Evaluate BBI-001 in Healthy Volunteers and in Patients With Hereditary Hemochromatosis
This study will be conducted in two parts run in parallel. Part 1 of the study (Phase 1, randomized, double-blind, placebo-controlled, multiple ascending dose) will enroll healthy volunteers in 3 sequential dose escalating…
- Trial name
- NCT07371793
- Testing
- BBI-001
- Where
- Australia
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Bond Biosciences
Down Syndrome
Effect of Sensory Integration on Gross and Balance on Children With Down Syndrome
To investigate the effect of sensory integration on gross motor function in children with Down syndrome. To investigate the effect of sensory integration on balance in children with Down syndrome.
- Trial name
- NCT07785011
- Testing
- BALANCE AND SENSORY INTEGRATION
- Where
- Egypt
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Raheel Sanad
Cancer Predisposition Syndrome, Predisposition, Genetic
Evaluation of Multi-Cancer Early Detection Testing in a High-Risk Population: The INFORM Study
The purpose of this research study is to evaluate the possible benefits and harms of screening with an investigational blood test designed to detect many types of cancer early.
- Trial name
- NCT06450171
- Testing
- GRAIL Galleri Test
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Dana-Farber Cancer Institute
Hemophilia
Predictors of Physical Activity in Adult Patients With Hemophilic Arthropathy
Introduction. The development of hemophilic arthropathy causes degenerative joint damage that leads to functional impairment, limiting physical activity and causing disability in patients with hemophilia. Objectives.
- Trial name
- NCT06960499
- Testing
- Surveys
- Where
- Spain
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Universidad Católica San Antonio de Murcia
Cystinosis
A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications
Preventing late onset of Cystinosis such as neurological complications and improving compliance to cysteamine treatment remain major challenges in management of subjects with cystinosis.
- Trial name
- Crystobs (NCT02012114)
- Testing
- Cysteamine bitartrate
- Where
- France
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Muscular Dystrophies, Myopathies
Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases
This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases.
- Conditions
- Muscular Dystrophies, Myopathies, Spinal Muscular Atrophy (SMA), Charcot Marie Tooth Disease
- Trial name
- NCT06666816
- Testing
- inapplicable
- Where
- 2 sites in Italy
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Photoaging, Weight Loss
Evaluation of the Effects of a Biostimulator and Dermal Fillers for Cheek Augmentation and Contour Deficiencies
Adult subjects with a history of or currently taking glucagon-like peptide-1 (GLP-1) receptor agonist medication and moderate-to-severe cheek wrinkles and midface contour deficiencies will be treated with Sculptra correction of…
- Conditions
- Photoaging, Weight Loss, Skin Laxity, Photodamaged Skin
- Trial name
- NCT06351358
- Testing
- Sculptra treatment, Restylane Treatment
- Where
- 2 sites in United States
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Galderma R&D
Duchenne Muscular Dystrophy
DART Electrical Impedance Myography (EIM) Trial in Duchenne Muscular Dystrophy (DMD) and Healthy Controls
Physicians seek a method to assess neuromuscular disease that is both non-invasive and quantifiable. Many patients do not tolerate standard current day assessment tools (such as needle electromyogram), and Electrical Impedance…
- Trial name
- NCT01523964
- Testing
- Testing with EIM
- Where
- 6 sites in United States
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Dart Therapeutics. LLC
Endometriosis, Adenomyosis
Next-Generation Endometriosis Diagnostics Through Comprehensive Multi-Dimensional Analysis
This study is a multicentric, observational, case-control, non-profit with additional procedures. It aims to deepen the understanding of the chronic gynecological conditions of endometriosis and adenomyosis, which significantly…
- Trial name
- AdEnd (NCT06572852)
- Testing
- No intervention
- Where
- 2 sites in Italy
- Volunteers
- 530 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Hereditary Diseases
Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases
object name: Multicenter analysis of genomic and metabolic data of neonatal genetic diseases. goal of study:(1) Gene sequencing data (138 genes related to 133 common genetic diseases) and tandem mass spectrometry metabolomics…
- Trial name
- MAOFGAMDNGD (NCT06183138)
- Testing
- Genomic sequencing
- Where
- China
- Volunteers
- 40,000 people, healthy volunteers welcome
- Sponsor
- Sixth Affiliated Hospital, Sun Yat-sen University
Primary Ciliary Dyskinesia
Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects.
- Trial name
- NCT04901715
- Testing
- Albuterol, Technetium99m - Sulfur Colloid (Tc99m-SC)
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
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