Clinical trials: Multiple Anomalies
Healthy Volunteers, OTC Deficiency
Study of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC Genotype
The objective of this clinical study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of single and multiple ascending doses of CMP-CPS-001 administered as a subcutaneous injection in adult healthy…
- Trial name
- NCT06247670
- Testing
- CMP-CPS-001
- Where
- 2 sites in Australia, Netherlands
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- CAMP4 Therapeutics Corporation
NAFLD
A Gender and Culturally Specific Approach to Reduce NAFLD in Mexican-American Men
Using a small Randomized Controlled Trial (RCT) study design, PNPLA3 risk allele carriers (CG/GG genotype) with NAFLD, will be assigned 2:1 to a tailored NAFLD-specific weight loss intervention compared to a wait-list control…
- Trial name
- NCT04186260
- Testing
- NAFLD-specific weight loss intervention, Wait-list control
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- University of Arizona
Cystic Fibrosis, Healthy
Multiple Breath Nitrogen Washout in Healthy and Cystic Fibrosis Adults
This study compares the lung clearance index (LCI) in cystic fibrosis and healthy adults obtained with two different multiple breath nitrogen washout (MBWN2) devices.
- Trial name
- NCT02368080
- Testing
- Comparison of two MBWN2 devices : "EasyOne Pro Lab" versus "Exhalyzer D"
- Where
- Belgium
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Myopathy
Maintenance of Muscle Mass in Older People: the Negative Impact of Statin Therapy
A major contributor to frailty and immobility in the elderly is the age related loss of muscle mass (sarcopenia). Cardiovascular disease (CVD) is the leading cause of mortality in the elderly, with high blood cholesterol and…
- Trial name
- NCT01047163
- Where
- United Kingdom
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Primary Ciliary Dyskinesia, Kartagener Syndrome
Physical Fitness, Exercise Capacity and Activities of Daily Living in Primary Ciliary Dyskinesia: a Retrospective Study
Decreased pulmonary function, peripheral muscle strength, and exercise capacity were reported in primary ciliary dyskinesia (PCD) in recent studies.
- Conditions
- Primary Ciliary Dyskinesia, Kartagener Syndrome, Immotile Cilia Syndrome
- Trial name
- NCT05040607
- Testing
- Data Collection
- Where
- Turkey (Türkiye)
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Healthy
Length of Adaptation and Threonine Requirement
This study aims to determine if the body's needs for threonine (an amino acid which is an essential building block for protein) is different when assessed after 1, 3 or 6 days of adaptation to the level of threonine intake being…
- Trial name
- NCT04585087
- Testing
- Dietary Intakes
- Where
- Canada
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
X-linked Hypohidrotic Ectodermal Dysplasia
Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a complex genetic disorder characterized by lack of sweat, sebaceous, submucous, Meibomian and mammary glands, sparse hair and eyebrows, and oligodontia.
- Trial name
- NCT01308333
- Where
- Germany
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- University Hospital Erlangen
Down Syndrome
Physical Fitness in DS: A Comparison of Cuevas Medak and Rebound Exercises
This randomized clinical trial investigates the comparative effects of Cuevas Medak Exercises Vs Rebound Exercises on physical fitness in DS.
- Trial name
- DownSyndrome (NCT07248449)
- Testing
- Cuevas Medak Exercises
- Where
- Pakistan
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Healthy Volunteers, Down Syndrome
Leucettinib-21 First-in-Human Phase 1 in Healthy Volunteers and Subjects With Down Syndrome and Alzheimer's Disease
Leucettinib-21 First-in-Human Phase 1 Study in 6 Parts: Single (Part 1 and 5) and Multiple (Part 3 and 6) Ascending Doses, and Food-Effect (Part 2) in Healthy Subjects, and Single Dose (Part 4) in People with Down Syndrome (DS)…
- Conditions
- Healthy Volunteers, Down Syndrome, Alzheimer's Disease
- Trial name
- LEUCETTA (NCT06206824)
- Testing
- Leucettinib-21
- Where
- France
- Volunteers
- 152 people, healthy volunteers welcome
- Sponsor
- Perha Pharmaceuticals
Pregnant Women Requiring Amniocentesis
Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Losses of imprinting are involved in various syndromes. Those occurring in the 11p15 region lead to Beckwith-Wiedemann and Silver-Russell Syndromes.
- Trial name
- DASIRUWIBE (NCT01842659)
- Testing
- Methylation Index
- Where
- France
- Volunteers
- 67 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Down Syndrome
Feasibility and Dose Tolerability of HD-tDCS in Healthy Adults and Children With Down Syndrome
Transcranial direct current stimulation (tDCS) is a method which enables noninvasive electrical stimulation of the cortex via electrodes placed on the subject's skull.
- Trial name
- NCT02481765
- Testing
- High definition transcranial direct current stimulation
- Where
- United States
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Madison
Kidney Disease
A Study to Evaluate the Safety, Tolerability, and Effects on Blood and Urine Markers of Single Ascending Dose of GSK4771261 in Healthy Participants and Participants With Autosomal Dominant Polycystic Kidney Disease
This is a study where a new drug, called GSK4771261 is being tested. Neither the study doctors, study staff or participants will be aware of what treatment is being given.
- Trial name
- NCT06734234
- Testing
- GSK4771261
- Where
- 23 sites in United States, Belgium and 6 more
- Volunteers
- 86 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Down Syndrome, Trisomy 21
Down Syndrome Metabolic Health Study
The purpose of this research study is to determine which measures best capture cardiovascular disease (CVD) risk and type 2 diabetes (T2DM) risk in children and adolescents with Down syndrome (DS).
- Trial name
- NCT01821300
- Where
- 2 sites in United States
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
ADPKD
Genetic Testing in Autosomal Dominant Polycystic Kidney Disease
Individuals with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD) often have a family history of the condition although up to 10-15% of cases are sporadic mutations.
- Trial name
- NCT06085807
- Testing
- Survey
- Where
- United States
- Volunteers
- 226 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Lax Skin
Renuvion APR Device to Improve the Appearance of Lax Tissue in the Neck and Submental Region
This is a prospective, multi-center, multi-phase, evaluator-blinded study of subjects undergoing a procedure with the Renuvion APR Device to improve the appearance of lax tissue in the neck and submental region.
- Trial name
- NCT04146467
- Testing
- Renuvion APR Device
- Where
- 6 sites in United States
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- Apyx Medical
Imaged Breast Abnormalities
Percutaneous Excision Trial
To confirm that a definitive diagnosis can be made from the tissue sample collected using the Intact BLES when defined radiology and pathology criteria are met.
- Trial name
- I-PET (NCT00720642)
- Where
- 24 sites in United States
- Volunteers
- 1,170 people, healthy volunteers welcome
- Sponsor
- Intact Medical Corporation
Healthy
A Comparative Bioavailability/Food Effect Study of Immediate-Release and Extended-Release Tramadol HCl/Acetaminophen Combination Products Following Single-Dose and Multiple-Dose Administration in Healthy Adult Volunteers
The objectives of this two-part study were to compare the single-dose and multiple-dose pharmacokinetics of extended release and immediate-release fixed combination formulations containing tramadol-HCl/acetaminophen and to…
- Trial name
- NCT00973232
- Testing
- DDS-06C (650 mg acetaminophen and 75 mg tramadol HCl), DDS-06C (650 mg acetaminophen and 75 mg tramadol), Zaldiar®
- Where
- United Kingdom
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Labopharm Inc.
Pentalogy of Cantrell, Mutations in Non-muscle Genes
Genes Mutation Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes.
- Trial name
- NCT00477932
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Healthcare of Atlanta
HIV
Barbershop Talk: HIV Prevention for African American Heterosexual Men
This program utilizes a community-engaged research approach to implementing and evaluating a program that seeks to reduce sexual risk behavior among Black adult heterosexual men.
- Trial name
- NCT01980771
- Testing
- BTWB intervention, Cancer prevention and screening
- Where
- 2 sites in United States
- Volunteers
- 860 people, healthy volunteers welcome
- Sponsor
- State University of New York - Downstate Medical Center
Infant, Newborn, Infant, Low Birth Weight
The Effects of Erythropoietin (EPO) on the Transfusion Requirements of Very Low Birth Weight Infants
This study tested the safety and efficacy of transfusing erythropoietin (Epo) and iron in infants of <1,250g birth weight. For infants 401-1,000g birth weight, we tested whether early erythropoietin (Epo) and iron therapy would…
- Conditions
- Infant, Newborn, Infant, Low Birth Weight, Infant, Small for Gestational Age, Infant, Premature
- Trial name
- EPO (NCT01203514)
- Testing
- Erythropoietin
- Where
- 9 sites in United States
- Volunteers
- 318 people, healthy volunteers welcome
- Sponsor
- NICHD Neonatal Research Network