Clinical trials: Birth Defect, open to volunteers
Fragile X Syndrome, Autism Spectrum Disorder
Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders
Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals.
- Conditions
- Fragile X Syndrome, Autism Spectrum Disorder, Autistic Disorder, Asperger Syndrome
- Trial name
- ENTRAIN (NCT06227780)
- Testing
- Alpha Auditory Entrainment
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Sickle Cell Disease
Development and Evaluation of an Information Management System and Communication System for Population-wide Point-of-care Infant Sickle Cell Disease Screening
Although over 75% of children with sickle cell disease (SCD) are born in sub-Sahara where the disease highly contributes to under-5 mortality and causes life-long debilitation, evidence-based strategies to control SCD are not…
- Trial name
- SIMCS SCD (NCT06563440)
- Testing
- Digital app and information system
- Where
- 2 sites in United States, Uganda
- Volunteers
- 24,000 people, healthy volunteers welcome
- Sponsor
- Makerere University
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
Myelomeningocele
In Utero Surgery for Fetal Myelomeningocele: Decision-making Mechanisms and Psychological Impact of Prenatal Therapy
Myelomeningocele is a malformation of the spine and spinal cord, generally diagnosed prenatally, and responsible for a complex disability for the unborn child.
- Trial name
- PriumPsy (NCT06796972)
- Testing
- Semi-structured interviews with a psychologist
- Where
- France
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Preeclampsia, Intrauterine Growth Restriction
sFlt1/PlGF and Planned Delivery to Prevent Preeclampsia at Term.
Preeclampsia (PE) affects ~5% of pregnancies. Although improved obstetrical care has significantly diminished associated maternal mortality, PE remains a leading cause of maternal morbidity and mortality in the world.
- Conditions
- Preeclampsia, Intrauterine Growth Restriction, Maternal Hypertension, Neonatal Outcome
- Trial name
- PE37 (NCT04766866)
- Testing
- sFlt1/PlGF screening in maternal blood at 35 to 36.6 weeks of gestation
- Where
- 21 sites in Belgium, Colombia and 7 more
- Volunteers
- 9,132 people, healthy volunteers welcome
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
ADPKD (Autosomal Dominant Polycystic Kidney Disease)
A Study to Investigate the Effects of JMKX003142 on QTc Interval in Healthy Adults
The primary objective of this study is to assess the effect of a therapeutic and supratherapeutic oral dose of JMKX003142 on the corrected cardiac QT interval relative to a placebo in healthy participants
- Trial name
- NCT07470177
- Testing
- JMKX003142 tablets
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Jemincare
Fetal Hypoxia, Fetal Acidemia
Dual System Study: Transvaginal Fetal Pulse Oximetry Measurement Systems
The objective of this study is to collect and compare fetal SpO2 waveforms and reference values to inform algorithm development for signal qualification and FSpO2 calculations. Subjects are women in labor.
- Trial name
- NCT07296419
- Testing
- Fetal Pulse Oximetery
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Raydiant Oximetry, Inc.
Missing Tooth/Teeth
Abutment Hydrophilicity on Soft Tissue Morphogenesis
The goal of this clinical trial is to evaluate the effect of abutment surface bioactivation via argon plasma treatment on peri-implant soft tissue healing and integration in adult patients undergoing implant therapy.
- Trial name
- NCT07082088
- Testing
- the test group were placed in an Argon plasma reactor
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Paolo Pesce
Immune Thrombocytopenia, Thrombotic Thrombocytopenic Purpura
Longitudinal Cohort of Thrombosis and Hemostasis Diseases
This is a multicenter, prospective, longitudinal, observational cohort study to investigate thrombosis and hemostasis diseases in Chinese patients.
- Conditions
- Immune Thrombocytopenia, Thrombotic Thrombocytopenic Purpura, Hemophilia A, Acquired, Disseminated Intravascular Coagulation
- Trial name
- NCT06727669
- Where
- 5 sites in China
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Peking University People's Hospital
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Facial Wrinkles, Jawline Contour
Evaluation of SofWave Sofware-Guided Energy Delivery for Lower Face and Neck Rejuvenation
Non-randomized single-arm prospective clinical study.
- Conditions
- Facial Wrinkles, Jawline Contour, Skin Laxity
- Trial name
- NCT07723664
- Testing
- SofWave
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Sofwave Medical LTD
Muscular Dystrophies, Myopathies
Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases
This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases.
- Conditions
- Muscular Dystrophies, Myopathies, Spinal Muscular Atrophy (SMA), Charcot Marie Tooth Disease
- Trial name
- NCT06666816
- Testing
- inapplicable
- Where
- 2 sites in Italy
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Psoriasis (PsO), Vitiligo Vulgaris
Evaluation of Stigma Toward Patients With Alopecia Areata, Atopic Dermatitis, Vitiligo, and Psoriasis
Primary objective: The primary objective is to evaluate in the general population the difference between emotional reactions associated with facial involvement by four major dermatologic diseases: psoriasis, atopic dermatitis…
- Conditions
- Psoriasis (PsO), Vitiligo Vulgaris, Atopic Dermatitis, Areata Alopecia
- Trial name
- STIGMADERM (NCT06801821)
- Where
- Italy
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Macrosomia, Fetal, Large for Gestational Age
Fetal Clavicular Measurement to Predict Fetal Macrosomia
Macrosomia is associated with increased risks for both the mother and the baby, including complications during delivery, injuries, and even death. The accurate diagnosis of macrosomia is often difficult before birth.
- Conditions
- Macrosomia, Fetal, Large for Gestational Age, Shoulder Dystocia
- Trial name
- NCT06283277
- Testing
- Obstetric Ultrasound
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Assiut University
Cardiovascular Abnormalities, Arterial Blood Pressure
Multicenter Study on Cardiovascular and Metabolic Complications in Patients With Biochemically Silent Pheochromocytomas and Paragangliomas
The aim of the study is to characterise the cardiovascular and metabolic complications pre- and post-surgery of patients with biochemically negative PPGL and to compare them with normal individuals and patients with secreting…
- Conditions
- Cardiovascular Abnormalities, Arterial Blood Pressure, Heart Rate, Congestive Heart Failure Chronic
- Trial name
- NCT07316075
- Where
- Greece
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Laikο General Hospital, Athens
Charcot-Marie-Tooth Disease
A Registered Cohort Study on Charcot-Marie-Tooth Disease
The aim of the study is to analyze the natural history data data from Charcot-Marie-Tooth disease and related disorders in China, to assess the clinical, genetic, epigenetic features of patients with Charcot-Marie-Tooth disease…
- Trial name
- NCT04010188
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Ning Wang, MD., PhD.
Cleft Lip and Palate
Test-Retest Reliability, Responsiveness and Interpretability of CLEFT-Q
The goal of this observational study is to test the questionnaire CLEFT-Q in a population of patients with cleft lip and/or palate. The main questions it aims to answer are: 1. Are CLEFT-Q scores reliable over time? 2.
- Trial name
- CLEFT-QSwePsyc (NCT05775679)
- Where
- Sweden
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- Department of Plastic and Reconstructive Surgery
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Congenital Heart Disease, Bronchopneumonia
Research on Body Voice AI Recognition System for Children's Health Management
The purpose of this research is to develop a body voice artificial intelligence (AI) recognition device, also referred to as an AI-assisted body sound identification device, by utilizing a deep learning-based novel AI algorithm…
- Conditions
- Congenital Heart Disease, Bronchopneumonia, Abdominal Disease
- Trial name
- NCT06542120
- Testing
- Heart Auscultation and Echocardiography, Chest Auscultation and Chest imaging examinations, Abdominal Auscultation and Abdominal imaging examinations
- Where
- 5 sites in China
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine