Clinical trials: Genetic Disorders
Healthy
Study to Evaluate Safety, Tolerability and Pharmacokinetics of rhNGF Eye Drops in Healthy Volunteers
The primary objective of this study is to assess the safety and tolerability of single and multiple ascending doses of rhNGF when administered as eye drops in healthy subjects.
- Trial name
- NGF0112 (NCT01744704)
- Testing
- rhNGF 0.5 µg/mL Sentinel, rhNGF 5 µg/mL Sentinel, rhNGF 20 µg/mL Sentinel
- Where
- 2 sites in Switzerland, United Kingdom
- Volunteers
- 74 people, healthy volunteers welcome
- Sponsor
- Dompé Farmaceutici S.p.A
Behcet Syndrome
Neuro-ultrasound Assessment in Behcet's Disease
Assessment of structural changes that occur in large extracranial and intracranial arteries in patients with Behcet's disease
- Trial name
- NCT04738864
- Testing
- ultrasound
- Where
- Egypt
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Assiut University
Beta-thalassemia, Glioma
Plasticizer Exposure and Its Consequences on Health
Plasticizers are chemicals commonly found in many everyday items, from food packaging to medical equipment. Although they are pervasive in our daily lives, researchers still don't have a clear picture of their long-term effects…
- Conditions
- Beta-thalassemia, Glioma, Healthy Controls, Transfusion-dependent Beta-Thalassemia
- Trial name
- PEACH (NCT06512298)
- Where
- Austria
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Medical University of Vienna
Human Papillomavirus
Natural History, Epidemiology and Pathogenesis of Severe HPV-Related Diseases (Neptune)
Background: Most symptoms of human papillomaviruses (HPV) infection, do not cause serious health problems, but some do. As HPV can cause uncontrolled growth of infected cells, some people can develop benign skin lesions, larger…
- Trial name
- NCT05026138
- Where
- United States
- Volunteers
- 850 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
PRE-HYPERTENSION
Cardiovascular Effects of Purple-Fleshed Potatoes
This study is being done to evaluate the effect on cardiovascular biomarkers and anthocyanin-derived plasma metabolites of Peruvian native purple-fleshed potato consumed over a 4-week period by prehypertensive men ages 18-40…
- Trial name
- NCT07734948
- Testing
- Purple flesh potato, White flesh potato
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Instituto de Investigacion Nutricional, Peru
Neurologic Deficits, Neurologic Disorder
NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Whole Genome Sequencing (WGS) in Adult Neurology
Prospective, multi-site, single-arm study to evaluate the diagnostic yield of cWGS in adults with neurological disorders. A single cohort naive of genetic testing will receive standard of care testing for 180 days followed by…
- Conditions
- Neurologic Deficits, Neurologic Disorder, Neurologic Abnormalities
- Trial name
- NeuroSEQ (NCT04170985)
- Testing
- clinical Whole Genome Sequencing
- Where
- United States
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.
Healthy
Effect of Food on Bioavailability of Modified Release Formulations of Imatinib
This study will evaluate the effect of food on the relative bioavailability of a single dose of imatinib given as a 800 mg modified release tablet, compared to twice-daily doses of 400 mg film-coated tablets.
- Trial name
- NCT00420043
- Testing
- imatinib
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Novartis
Homocystinuria
Safety, Tolerability and Pharmacodynamics of SYNB1353 in Healthy Adult Volunteers
This is a Phase 1, double-blind (Sponsor-open), placebo-controlled, randomized, dose-escalation, inpatient study using a multiple-ascending dose (MAD) design to assess the safety, tolerability, and PD of SYNB1353 in HVs.
- Trial name
- HCU (NCT05462132)
- Testing
- SYNB1353
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Synlogic
Infertility, Hereditary Diseases
Embryo Health Study
This study intends to determine the patients' perception and motivation to obtain additional information on their preimplantation embryos' risks of polygenic disorders.
- Trial name
- EHS (NCT04528498)
- Testing
- Preimplantation Genetic Testing
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Genomic Prediction Inc.
Analgesia
A Study Investigating the Pharmacokinetic Profiles of Four Extended Release Paracetamol Formulations
A study investigating the pharmacokinetic profiles of four extended release paracetamol formulations
- Trial name
- NCT01568749
- Testing
- Paracetamol, Paracetamol formulation 1, Paracetamol Formulation 2
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Asthma, Allergic Rhinitis
Genetics of the Early and Late Response to Allergen Challenge
The investigators are investigating the early and late responses to allergen challenge. The research participants who the investigators will study (from three cohorts) will be part of independently-approved studies involving…
- Trial name
- NCT01113697
- Where
- 5 sites in Canada
- Volunteers
- 520 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
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
Atopic Dermatitis
Effects of a Mixed Chinese Herbal Formula on Atopic Dermatitis
The aim of this study is to investigate the clinical therapeutic effects of a mixed Chinese herbal formula (CHF) in treating atopic dermatitis (AD) based on its effects on cytokine levels and immune cell counts.
- Trial name
- NCT05455060
- Testing
- Chinese herbal formula (CHF)
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Chang Gung Memorial Hospital
Alzheimer's Disease, Huntington Disease
A Study In Healthy Volunteers To Estimate The Pharmacokinetics Of Four Modified-Release Formulations Of Dimebon (Latrepirdine)
This study will evaluate four different modified release formulation to estimate the amount of dimebon available to the body relative to the current dimebon formulation that is given three times a day.
- Trial name
- NCT00988624
- Testing
- Dimebon IR Tablet, Dimebon MR1, Dimebon MR2
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Pfizer
Oral Mucosal Disease
Clinical Research Core Dental Screening Protocol
This study will screen patients for eligibility in studies sponsored by the Craniofacial Genetics Section (HCGS), the Clinical Research Core (CRC), and other branches located within the National Institute of Dental and…
- Trial name
- NCT00090818
- Where
- United States
- Volunteers
- 441 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Angelman Syndrome
Angelman Syndrome Video Assessment (ASVA) Source Material Study
This is a longitudinal, observational, nonrandomized, fully remote study enrolling approximately 55 participant-caregiver dyads.
- Trial name
- ASVA SMS (NCT05637697)
- Where
- United States
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- The Emmes Company, LLC
Cytochrome P450 Oxidoreductase Deficiency, Hypertension
Investigation of the Etiology of Hypertension and Endothelial Damage in Patients With Cytochrome P450 Oxidoreductase Deficiency
This study investigates the etiology of hypertension and endothelial damage in patients with Cytochrome P450 Oxidoreductase (POR) deficiency.
- Conditions
- Cytochrome P450 Oxidoreductase Deficiency, Hypertension, Endothelial Dysfunction, Congenital Adrenal Hyperplasia
- Trial name
- PORENDO (NCT06756620)
- Where
- Turkey (Türkiye)
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Ozge Bayrak Demirel
Schnitzler Syndrome
Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors
The Schnitzler syndrome is a rare entity characterized by an urticarial rash and recurrent fever in a patient with a monoclonal IgM component.
- Trial name
- NCT00933296
- Where
- 17 sites in France, Italy
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Skin Laxity
Feasibility Study: Ulthera Treatment of the Buttocks and Thighs
Up to 30 subjects will be enrolled. Enrolled subjects will receive an Ulthera® treatment to one side of the body, treating the lateral buttock region. Follow-up visits will occur at 90 and 180 days post-treatment.
- Trial name
- NCT01708460
- Testing
- Ulthera System Treatment
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Ulthera, Inc
Hypogonadism, Hypogonadism, Male
Study On Bioavailability And Pharmacokinetics Of Various Doses Of Testosterone Administered With And Without Dutasteride
The combination of testosterone and dutasteride is intended for use in hypogonadal men. This study will evaluate the bioavailability and pharmacokinetics of various doses of testosterone administered with and without dutasteride
- Trial name
- NCT00400335
- Testing
- Nanomilled testosterone, commercially available dutasteride, Nanomilled dutasteride
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
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