Clinical trials: Multiple Anomalies
ADPKD (Autosomal Dominant Polycystic Kidney Disease), Renal Edema
A Study to Investigate the Pharmacokinetics of JMKX003142 in Healthy Participants and Participants With Hepatic Impairment
The primary purpose of this study is to evaluate the plasma PK of JMKX003142 following a single dose in participants with mild and moderate hepatic impairment compared to matched healthy participants with normal hepatic function.
- Trial name
- NCT07909070
- Testing
- JMKX003142
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Jemincare
Healthy Participants, Hemophilia A
A Study of Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SR604 in Two Participants Groups (Part A: Healthy Participants, and Part B: Participants With Hemophilia A or Hemophilia B or Factor VII Deficiency)
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamic (PD) of SR604 in healthy participants (Part A) and to evaluate the safety, tolerability, PK, PD, and efficacy of SR604…
- Conditions
- Healthy Participants, Hemophilia A, Hemophilia B, Factor VII Deficiency
- Trial name
- NCT06349473
- Testing
- SR604
- Where
- 10 sites in United States, Canada
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Equilibra Bioscience LLC
Men, Life Style
Dietary Effects on Weight Loss and Lipid Profile in Sedentary Men
Negative-calorie diet is among the popular dieting guides for weight loss; however, there is still little knowledge about this method.
- Conditions
- Men, Life Style, Lipid Metabolism Disorders, Obesity
- Trial name
- NCT03082794
- Testing
- NCD, LCD
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- P.L.Shupik National Medical Academy of Post-Graduate Education
Psoriasis, Atopic Dermatitis
A Study of EDP1815 in Healthy Participants and Participants With Mild to Moderate Psoriasis and Atopic Dermatitis
Evelo will investigate the safety and tolerability of EDP1815 and its potential to be a medicinal product in healthy volunteers and individuals with mild to moderate psoriasis and atopic dermatitis.
- Trial name
- NCT03733353
- Testing
- EDP1815
- Where
- 9 sites in United Kingdom
- Volunteers
- 204 people, healthy volunteers welcome
- Sponsor
- Evelo Biosciences, Inc.
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Down Syndrome, Intellectual Disability
Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin
Analyze genetic and biological markers in patients with Intellectual Deficiencies (ID) of genetic origin in order to better understand the mechanisms of modified genes, cellular mechanisms, pathways involved in different…
- Trial name
- BioJeL (NCT05767203)
- Testing
- Biological samplings
- Where
- France
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Institut Jerome Lejeune
Netherton Syndrome
A Study to Assess the Safety and Pharmacokinetics of Single Ascending Subcutaneous and Intravenous Doses of DS-2325a in Healthy Subjects
Netherton syndrome (NS) is a rare autosomal recessive disease and no systemic treatment or standard of care currently exists for patients with NS.
- Trial name
- NCT05388903
- Testing
- DS-2325a
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Daiichi Sankyo
22q11.2 Deletion Syndrome
Arithmetic Abilities in Children With 22q11.2DS
The study ARITH22 will investigate the role of visuo-spatial attention on arithmetic abilities of children with 22q11.2 deletion syndrome.
- Trial name
- ARITH22 (NCT04373226)
- Testing
- Magnitude comparison tasks and neuropsychological testing
- Where
- France
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier
Down Syndrome
Effects of Whole-body Vibration Training on Body Composition in Adolescents With and Without Down Syndrome
The main aims of the present project include 1) to study the longitudinal effects of whole-body vibratory exercise on bone metabolism in adolescents with and without DS and 2) to evaluate whether a low frequency vibratory…
- Trial name
- NCT02380638
- Testing
- Whole-body vibration training (Power Plate®) on bone mass and bone metabolism in adolescents with and without Down syndrome.
- Where
- Spain
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Universidad de Zaragoza
Atopic Dermatitis
SAD/MAD Safety and PK Study of RBN-3143 in Healthy and Atopic Dermatitis Subjects
RBN-3143 Background: PARP proteins are members of a family of seventeen ADP-ribosyltransferase (ART) enzymes that regulate cellular processes including gene expression, protein degradation, and multiple cellular stress responses.
- Trial name
- NCT05215808
- Testing
- RBN-3143
- Where
- 6 sites in Australia, New Zealand
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Ribon Therapeutics, Inc.
Autosomal Recessive Polycystic Kidney Disease
Imaging Assessments of ARPKD Kidney Disease Progression
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a potentially lethal genetic disorder for which there are currently no disease specific treatments.
- Trial name
- IMAGE-ARPKD (NCT07201025)
- Where
- 2 sites in United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- The Cleveland Clinic
Congenital Heart Defects, Down Syndrome
Investigation of Cardiopulmonary Parameters, Motor Development and Muscle Strength in DS With and Without CHD
Congenital heart diseases (CHD) are detected in 40-60% of individuals with Down syndrome (DS) and increase the risk of developmental delay in the presence of syndromes.
- Conditions
- Congenital Heart Defects, Down Syndrome, Gross Motor Development Delay
- Trial name
- NCT05191654
- Testing
- evaluation of cardiopulmonary parameters, gross motor development and hand grip strength
- Where
- Turkey (Türkiye)
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Atılım University
Tuberous Sclerosis, Neurofibromatoses
Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1)
This study is a prospective, randomized, double-blind, placebo-controlled evaluation of the safety of a topically applied formulation of rapamycin to cutaneous fibromatous lesions in subjects with Tuberous Sclerosis Complex (TSC)…
- Conditions
- Tuberous Sclerosis, Neurofibromatoses, Angiofibroma, Neurofibroma
- Trial name
- NCT01031901
- Testing
- Skincerity, Skincerity plus sirolimus/rapamycin, Skinercity plus sirolimus/rapamycin
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston
Neonatal Alloimmune Thrombocytopenia
Study on the Anti-HPA Antibodies Caused Neonatal Alloimmune Thrombocytopenia in Chinese Pregnant Women
This clinical study aims to investigate the anti-HPA antibodies caused neonatal alloimmune thrombocytopenia in Chinese pregnant women. The survey and data collect will help form an appropriate clinical screening procedure
- Trial name
- NCT02934906
- Testing
- Standard clinical treatment, including intravenous immunoglobulin and/or platelet transfusion
- Volunteers
- 55,497 people, healthy volunteers welcome
- Sponsor
- Xinqiao Hospital of Chongqing
Obesity
Low Carb Diets & Exercise for Cardiovascular Disease (CVD) Reduction
The purposes of this study are: To investigate the effects of a 6 month low carbohydrate diet in obese men on markers of heart health including blood fats, blood clotting factors, inflammatory markers and levels of body fat.
- Trial name
- NCT01176084
- Testing
- low carbohydrate diet, low carbohydrate diet and exercise
- Where
- United Kingdom
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University of Surrey
Down's Syndrome
Treadmill Training With and Without Weighted Ankle Cuffs on Gait Parameters
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small "packages" of genes in the body. Down syndrome (DS), also known as trisomy 21, is caused by the presence of all or part of a third copy…
- Trial name
- NCT06176755
- Testing
- Treadmill training with weighted ankle cuffs, Treadmill training
- Where
- Pakistan
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Trisomy 21, Trisomy 18
Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a…
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
- Trial name
- MAPS (NCT01852708)
- Where
- 9 sites in United States, Spain and 1 more
- Volunteers
- 1,059 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Down Syndrome
Gamma Frequency Stimulation in Individuals With Down Syndrome
Down Syndrome (DS) is characterized by an additional copy of chromosome 21, which also increases risk of Alzheimer's Disease (AD).
- Trial name
- NCT05196984
- Testing
- GENUS device (Active Settings)
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Massachusetts Institute of Technology
Bone Density, Gonadal Steroid Hormones
SIBlos EXtension Study (SIBEX)
Population-based, longitudinal cohort study designed to evaluate changes in bone mineral density, bone geometry, body composition, parameters reflecting muscle force, and sex steroid status in healthy young men, as well as their…
- Conditions
- Bone Density, Gonadal Steroid Hormones, Thyroid Hormones
- Trial name
- NCT02997033
- Testing
- No intervention
- Where
- Belgium
- Volunteers
- 709 people, healthy volunteers welcome
- Sponsor
- University Ghent
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