Clinical trials: Multiple Anomalies
Polycystic Kidney, Autosomal Dominant
The Effect of High and Low Sodium Intake on Urinary Aquaporin-2 in Autosomal Dominant Polycystic Kidney Disease
The aim of the study is to test the following hypotheses: 1. that the function and/or regulation of AQP2 and /or ENaC in the principal cells is abnormal in autosomal dominant polycystic kidney disease. 2.
- Trial name
- NCT00410007
- Testing
- High Sodium Diet, Low Sodium Diet, Hypertonic saline infusion
- Where
- Denmark
- Volunteers
- 29 people, healthy volunteers welcome
- Sponsor
- Carolina Cannillo
Aneuploidy, Down Syndrome
Does an Educational Video for Aneuploidy Screening Improve Informed Choice Among Pregnant Women?
Informed decision-making regarding aneuploidy screening has been reported to be low. Poor knowledge and the lack of deliberation have been cited as reasons for uninformed choices, highlighting the need for adequate pre-test…
- Conditions
- Aneuploidy, Down Syndrome, Pregnancy Early
- Trial name
- EVA (NCT05492981)
- Testing
- Enhanced (intervention) education
- Where
- Singapore
- Volunteers
- 286 people, healthy volunteers welcome
- Sponsor
- National University Hospital, Singapore
Hereditary Hemochromatosis
A Study to Evaluate BBI-001 in Hereditary Haemochromatosis (HH) Patients and Iron Deficient Volunteers
This is a first in human, double-blind, randomized, placebo-controlled, two-arm crossover study evaluating the safety, tolerability and PD of ascending dose levels of BBI-001 after: a single administration in iron deficient male…
- Trial name
- NCT05238207
- Testing
- BBI-001, Original Fibre Metamucil
- Where
- Australia
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Bond Biosciences
Multiple Osteochondroma, Enchondromatosis
Survey on Multiple Osteochondromas and Enchondromatoses During the Transition From Paediatric Care to Adult Care
This prospective observational study aims to understand the transition experiences and unmet needs of patients living with multiple osteochondromas or enchondromatoses during the paediatric to adult care, in order to produce a…
- Trial name
- PJMOE (NCT07839637)
- Where
- Italy
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- Istituto Ortopedico Rizzoli
Cystic Fibrosis
MAD Study Evaluating the Safety, Tolerability, and Pharmacokinetics of Cavosonstat (N91115) in Healthy Subjects (SNO-9)
The present study is designed to assess the safety and tolerability of escalating, multiple ascending doses of Cavosonstat (N91115) in healthy subjects.
- Trial name
- (SNO-9) (NCT02934139)
- Testing
- Cavosonstat
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Nivalis Therapeutics, Inc.
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
Down Syndrome
Shared Book Reading to Promote Mental Well-being Among Young People with and Without Down's Syndrome
Abstract Background: With the progress of society and the deepening of people's understanding of Down syndrome (DS), research has shifted focus on how to improve the quality of life and education for young people with DS.
- Trial name
- NCT06813625
- Testing
- Shared book reading intervention
- Where
- China
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Macau
Down Syndrome
Infants With Down Syndrome on a Different Surface
This study included infants with Down syndrome who applied to the Faculty of Physical Therapy and Rehabilitation, Developmental and Early Physiotherapy Unit of Hacettepe University.
- Trial name
- NCT04539535
- Testing
- General Movements Assessment on two different surfaces in infants with DS and typically infants on the same day
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Intellectual Disability, Neurodevelopmental Disorders
Physical Activity and Community EmPOWERment Project
Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease…
- Conditions
- Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome
- Trial name
- PACE (NCT06740162)
- Testing
- PACE Program
- Where
- 2 sites in United States
- Volunteers
- 376 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Healthy Volunteers, Cryopyrin Associated Periodic Syndrome
Safety and Tolerability, Pharmacokinetic and Pharmacodynamic Study With IZD334
This is a first in human (FIH), single-centre, double -blind, randomised, cross-over, SAD followed by a MAD study of IZD334 conducted in healthy adult participants as well as an open-label cohort in adult patients with CAPS.
- Trial name
- NCT04086602
- Testing
- IZD334
- Where
- Australia
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Inflazome UK Ltd
Atopic Dermatitis
Study to Evaluate Safety and Tolerability of PF-07242813 in Healthy Participants and Participants With Atopic Dermatitis
This is the first time PF-07242813 will be given to humans. The purpose of the study is to evaluate the safety, tolerability, and pharmacokinetics of escalating single and repeat doses of PF-07242813 in healthy participants and…
- Trial name
- NCT04668066
- Testing
- PF-07242813
- Where
- 7 sites in United States
- Volunteers
- 121 people, healthy volunteers welcome
- Sponsor
- Pfizer
Ketosis, Resistance Exercise
Acute Effects of Ketone Monoester Co-Ingestion With Dietary Protein on Whole-Body Phenylalanine Oxidation, Phenylalanine Retention, and Myofibrillar Protein Breakdown Following Resistance Exercise in Older Males
The goal of this trial is to determine if ketone monoester supplementation in conjunction with protein supplementation in the post exercise period can augment whole-body protein metabolism following resistance exercise in older…
- Conditions
- Ketosis, Resistance Exercise, Dietary Protein, Aging
- Trial name
- KET-OLD-M (NCT07884513)
- Testing
- Ketone Monoester + Dietary Protein (KET+PRO), Dietary Protein (PRO), Resistance Exercise
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- McGill University
GDM, Preterm Preeclampsia
Advancing Stillbirth Prevention Through Innovative Risk Evaluation (ASPIRE) Clinical Study
ASPIRE will be a multi-site, prospective, two-part longitudinal, noninterventional observational cohort study of nulliparous singleton pregnant women to evaluate biomarkers from blood and ocular imaging for prediction of…
- Conditions
- GDM, Preterm Preeclampsia, Preeclampsia, Fetal Growth Restriction (FGR)
- Trial name
- ASPIRE (NCT07669935)
- Testing
- None (this is an observational study with no intervention)
- Where
- 2 sites in United States
- Volunteers
- 5,500 people, healthy volunteers welcome
- Sponsor
- Medicines360
RASopathy, Costello Syndrome
Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies
Costello syndrome (CS) and cardio-facio cutaneous syndrome (CFCS) belongs to RASopathies, a group of multisystemic disorders caused by unregulated signalling through the RAS/MAPK pathway, an intracellular signalling pathway…
- Conditions
- RASopathy, Costello Syndrome, Noonan Syndrome, Cardio-Facio-Cutaneous Syndrome
- Trial name
- 3776 (NCT06331117)
- Testing
- Diagnostic test
- Where
- Italy
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Myotonic Dystrophy 1
Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder caused by an expanded CTG trinucleotide repeat in the 3' untranslated region of the DMPK gene.
- Trial name
- C-DMCOS-DM1 (NCT06101940)
- Testing
- MRI scan, Electrocardiography, Pulmonary function test
- Where
- 22 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Huashan Hospital
Normal Volunteers, Atopic Dermatitis (AD)
Safety, Tolerability and PK of ATTO-3712 in Healthy Volunteers and Patients With Atopic Dermatitis
The goal of this clinical trial is to assess the safety, tolerability, and pharmacokinetics of ATTO-3712 in healthy adults and patients with atopic dermatitis.
- Conditions
- Normal Volunteers, Atopic Dermatitis (AD), Atopic Eczema, Atopic Eczema/Dermatitis (Non-Specific)
- Trial name
- NCT07205081
- Testing
- ATTO-3712
- Where
- 17 sites in United States, Canada and 1 more
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Attovia Therapeutics Inc
Arthritis, Gouty
The MAD Study of SSGJ-613 in Healthy Subjects
To evaluate the safety and tolerability of SSGJ-613 after multiple subcutaneous injections in healthy subjects.
- Trial name
- NCT05966701
- Testing
- SSGJ-613
- Where
- China
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Sunshine Guojian Pharmaceutical (Shanghai) Co., Ltd.
Infant Colic
Effects of Acupuncture in the Treatment of Infant Colic
Standardized acupuncture treatment for infant colic is a common treatment in general practice for doctors educated in medical acupuncture.
- Trial name
- NCT00907621
- Testing
- Acupuncture with Seirin 020x15 mm sterile acupuncture needle
- Where
- Norway
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- University of Oslo
Huntington's Disease
Escalating Dose Study in Healthy Volunteers With SEN0014196
This is a trial in healthy volunteers to study the safety, tolerability and pharmacokinetics of single and multiple escalating doses of SEN0014196.
- Trial name
- NCT01521832
- Testing
- SEN0014196
- Where
- United Kingdom
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Siena Biotech S.p.A.
Hereditary Angioedema
First-in-Human Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of BCX7353 in Healthy Western and Japanese Volunteers
This is a 3-part Phase 1 dose-ranging study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of single (Part 1) and multiple (Part 2) ascending doses of BCX7353 in healthy subjects, and single and…
- Trial name
- NCT02448264
- Testing
- BCX7353
- Where
- United Kingdom
- Volunteers
- 122 people, healthy volunteers welcome
- Sponsor
- BioCryst Pharmaceuticals