Clinical trials: Multiple Anomalies
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Phase 1 Study to Evaluate the Safety and Tolerability of Intravenously Administered PYC-003
This is a Phase 1, First-in-Human study to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and immunogenicity of PYC-003 in healthy adult participants and adult participants with confirmed PKD1…
- Trial name
- NCT06714006
- Testing
- PYC-003
- Where
- 12 sites in Australia, Hong Kong and 1 more
- Volunteers
- 166 people, healthy volunteers welcome
- Sponsor
- PYC Therapeutics
Familial Mediterranean Fever
Pharmacokinetics Study of Colchicine in Familial Mediterranean Fever (FMF) Patients
Colchicine is widely recognized as safe and effective treatment of Familial Mediterranean Fever (FMF) in children and adults. Colchicine is currently used to treat FMF in younger patients by inexact dosing through breaking or…
- Trial name
- NCT01075906
- Testing
- colchicine sprinkle capsules
- Where
- 10 sites in United States, Armenia and 2 more
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Mutual Pharmaceutical Company, Inc.
Gout, Acute Gout Flare
A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Oral ABP-745 Administration in Healthy Volunteers
A randomized, double-blind, placebo-controlled, dose-escalation study will be conducted in healthy volunteers. This study will evaluate the safety, tolerability, and pharmacokinetics (PK) of ABP-745 following single (Part 1) and…
- Conditions
- Gout, Acute Gout Flare, Gout Flares
- Trial name
- ABP-745 (NCT06258213)
- Testing
- ABP-745
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Atom Therapeutics Co., Ltd
Mucopolysaccharidosis Type II, Metabolic Diseases
A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
It is a phase I open-label single-dose, dose-escalation cohort study to evaluate of the tolerance, safety, and pharmacokinetics of GNR-055 in healthy volunteers
- Trial name
- NCT04539340
- Testing
- GNR-055
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- AO GENERIUM
Down Syndrome
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines.
- Trial name
- DSC2U (NCT04227197)
- Testing
- Down Syndrome Clinic to You (DSC2U)
- Where
- United States
- Volunteers
- 281 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Congenital Diaphragmatic Hernia
Microbiome and Volatile Organic Compounds in Patients With CDH
Despite improved prenatal diagnostics and therapeutic possibilities, congenital diaphragmatic hernia (CDH) represents a cross-disciplinary challenge.
- Trial name
- CDHVOCS (NCT03787160)
- Testing
- initial VOC, initial fecal microbiome, initial pulmonary microbiome
- Where
- Austria
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
New Phenotype (Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia)
Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia
This study involves a single family, including 1 patient, father, mother and sister. The patient presented with a new phenotype associating premature white hair, renal polycystosis, aortic dilation/dissection and lymphopenia.
- Trial name
- BCL-2 (NCT03651388)
- Where
- France
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire Dijon
Respiratory Infections, Genetic Disorder
Molecular Typing of Community-acquired Pneumonia Based on Multiple-omic Data Analysis
Community-acquired pneumonia (CAP) is a heterogeneous disease causing great morbidity, mortality and health care burden globally.
- Conditions
- Respiratory Infections, Genetic Disorder, Community-Acquired Infections, Host-Pathogen Interactions
- Trial name
- NCT03093220
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Peking University People's Hospital
Healthy, Atopic Dermatitis
A Study of LY3872386 in Healthy Participants and Participants With Atopic Dermatitis
The main purpose of this study is to evaluate the safety and tolerability of LY3872386 in healthy participants and participants with atopic dermatitis. The safety of prednisone is also evaluated in healthy participants.
- Trial name
- NCT06119529
- Testing
- LY3872386, Prednisone
- Where
- 2 sites in United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Eli Lilly and Company
Human Immunodeficiency Virus, Acquired Immunodeficiency Syndrome
Self-Test Strategies and Linkage Incentives to Improve ART and PrEP Uptake in Men
This is a randomized controlled trial to test a combination behavioral and biomedical interventions to improve the HIV prevention and care cascades in a population of mobile men in a high priority setting (fishermen in Kenya).
- Conditions
- Human Immunodeficiency Virus, Acquired Immunodeficiency Syndrome, HIV Infections, Sexually Transmitted Diseases, Viral
- Trial name
- NCT04772469
- Testing
- Provision of multiple self-tests, Small monetary incentives, Use of SMS/text reminders to motivate adherence to ART or PrEP
- Where
- Kenya
- Volunteers
- 934 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Down Syndrome
Oxygen Uptake Kinetics During Submaximal Exercise in Adults With Down Syndrome
This study aims to compare the rate at which oxygen uptake adapts to submaximal, moderate intensity exercise (oxygen uptake kinetics) between adults with and without Down syndrome, to determine the contribution of oxygen uptake…
- Trial name
- NCT05995223
- Testing
- Submaximal exercise protocol
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- University of Nevada, Las Vegas
Congenital Fibrosis of Extraocular Muscles, Duane Retraction Syndrome
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.
- Conditions
- Congenital Fibrosis of Extraocular Muscles, Duane Retraction Syndrome, Duane Radial Ray Syndrome, Mobius Syndrome
- Trial name
- NCT03059420
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Healthy
A Study to Learn How Different Amounts of the Study Medicine Called PF-08049820 Are Tolerated and Act in the Body in Healthy Adults
The purpose of this study is to learn about the safety of the study medicine called PF-08049820 in healthy adults. The study will also see: how the body processes the study medicine and if food affects the amount of study…
- Trial name
- NCT06686797
- Testing
- PF-08049820
- Where
- United States
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Pfizer
Weight Loss
Exercise Duration Models, in Middle-aged Men
Duration of exercise is an important factor among the medical guides for weight loss. However, there is still little knowledge about other its models in middle-aged and older men.
- Trial name
- NCT03046641
- Testing
- Continuous training, The interval training
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- P.L.Shupik National Medical Academy of Post-Graduate Education
Primary Hyperoxaluria Type 1 (PH1)
Study of Lumasiran in Healthy Adults and Patients With Primary Hyperoxaluria Type 1
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of single-ascending doses (SAD) and multiple-ascending doses (MAD) of lumasiran in healthy adult volunteers and subjects…
- Trial name
- NCT02706886
- Testing
- Lumasiran
- Where
- 9 sites in France, Germany and 3 more
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Alnylam Pharmaceuticals
Chronic Spontaneous Urticaria (CSU), Hidradenitis Suppurativa (HS)
SKIN Disease Profiling by an Exploratory, pRospective, Biomarker Study in dermatoloGY Practice (SKINERGY)
The goal of this observational study is to comprehensively profile six immune-mediated inflammatory diseases, including atopic dermatitis (AD), plaque psoriasis (PSO), hidradenitis suppurativa (HS), cutaneous T-cell lymphoma…
- Conditions
- Chronic Spontaneous Urticaria (CSU), Hidradenitis Suppurativa (HS), Psoriasis (PsO), Atopic Dermatitis (AD)
- Trial name
- SKINERGY (NCT07021495)
- Where
- 8 sites in Netherlands
- Volunteers
- 840 people, healthy volunteers welcome
- Sponsor
- Leiden University Medical Center
X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)
The study proposes to enroll male subjects affected by Hypohidrotic Ectodermal Dysplasia (XLHED). The sweat duct images will be acquired with a CE marked skin-imaging device and the sweat rate will be measured using a CE marked…
- Trial name
- ECP-012 (NCT01629927)
- Where
- Spain
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Birth Defects, Multiple Congenital Anomaly
Genetic Inclusion by Virtual Evaluation
This study aims to transform the current clinical practice paradigm by leveraging an internally designed web-based model of delivery of care called Consultagene to provide remote evaluation and genomic sequencing for improving…
- Conditions
- Birth Defects, Multiple Congenital Anomaly, Neurodevelopmental Disorders
- Trial name
- GIVE (NCT05318222)
- Testing
- Whole genome sequencing (WGS)
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Polycystic Kidney, Autosomal Dominant
The Role of Endothelial Dysfunction in Adult Polycystic Kidney Disease
This pilot study will compare endothelial function in patients with ADPKD with matched healthy volunteers and normotensive chronic kidney disease stage 1 \& 2 patients.
- Trial name
- NCT04023214
- Testing
- Peripheral (digital) arterial tonometry
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Sheffield Teaching Hospitals NHS Foundation Trust
Healthy
Fiber Longer Term Study on Energy Intake
Dietary fibre seems to have a relevant role in body weight management. In an acute study the investigators found that high viscous-high gelling pectin increased feelings of satiety.
- Trial name
- FLiTS (NCT01526759)
- Testing
- LM pectin (10%), gelatin
- Where
- Netherlands
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Wageningen University