Clinical trials: Multiple Congenital Anomaly
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
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
Primary Ciliary Dyskinesia
Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
Primary ciliary dyskinesia is an autosomal recessive disorder characterized by abnormal ciliary movement and disrupted mucociliary clearance.
- Trial name
- NCT03370029
- Where
- Turkey (Türkiye)
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Gazi University
Autism Spectrum Disorders
Social Interactions: Ocular Explorations and Pupillometry in Autism
The primary objective of this work will first to characterize in typical childhood, visual exploratory behavior and pupillary response associated with salience of human social stimuli (faces and body movements), and then to…
- Trial name
- ISEOP (NCT01647295)
- Where
- France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Alström Syndrome (ALMS)
Clinical Study of a Single Ciliopathy: Alström Syndrome
The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets.
- Trial name
- NCT02890550
- Where
- 14 sites in France
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Huntington's Disease
HDClarity: a Multi-site Cerebrospinal Fluid Collection Initiative to Facilitate Therapeutic Development for Huntington's Disease
HDClarity will seek at least 2500 research participants at different stages of Huntington's disease (HD). The primary objective is to collect a high quality CSF sample for evaluation of biomarkers and pathways that will enable…
- Trial name
- HDClarity (NCT02855476)
- Where
- 40 sites in United States, Canada and 8 more
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University College, London
Healthy Volunteers, Propionic Acidemia
A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia
The purpose of this study is to assess the safety, tolerability, PK and PD of BBP-671 in healthy volunteers and patients with Propionic Acidemia or Methylmalonic Acidemia.
- Conditions
- Healthy Volunteers, Propionic Acidemia, Methylmalonic Acidemia, Organic Acidemia
- Trial name
- NCT04836494
- Testing
- BBP-671
- Where
- 3 sites in United States
- Volunteers
- 79 people, healthy volunteers welcome
- Sponsor
- CoA Therapeutics, Inc., a BridgeBio company
Jaundice, Neonatal, Neonatal Diseases and Abnormalities
Evaluation of Bili-ruler, a Low-cost, Plastic Icterometer for Community-based Screening of Jaundice in Newborns
Newborn jaundice, or accumulation of bilirubin molecules in blood, affects 60-80% of newborns and, in severe cases, places newborns at risk of brain damage and death.
- Conditions
- Jaundice, Neonatal, Neonatal Diseases and Abnormalities, Neonatal Hyperbilirubinemia, Screening Tool
- Trial name
- NCT06687746
- Testing
- Bili-ruler
- Where
- 5 sites in India, Kenya and 2 more
- Volunteers
- 4,060 people, healthy volunteers welcome
- Sponsor
- George Washington University
Infant, Newborn, Infant, Low Birth Weight
Multi-dose Pharmacokinetics and Dose Ranging of Inositol in Premature Infants (INS-2)
This pilot study is a randomized, placebo-controlled, clinical trial to measure changes in blood and urine levels of inositol in premature infants at high risk for retinopathy of prematurity (ROP) following repeated doses of…
- Conditions
- Infant, Newborn, Infant, Low Birth Weight, Infant, Small for Gestational Age, Infant, Premature
- Trial name
- INS-2 (NCT01030575)
- Testing
- Inositol lower volume, Inositol mid-level volume, Inositol high volume
- Where
- 17 sites in United States
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- NICHD Neonatal Research Network
Congenital Heart Disease
Evolution of Cardiopulmonary Fitness in Children With Congenital Heart Disease
With an incidence of 0.8 %, congenital heart disease (CHD) is the leading cause of congenital anomalies at birth. Medical advances in CHD have transferred the mortality from childhood to adulthood and today there are more adults…
- Trial name
- Follow-Heart (NCT04815577)
- Where
- France
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Sotos Syndrome, Beckwith-Wiedemann Syndrome
Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development
Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve an excessive growth of the whole body or of specific body parts.
- Conditions
- Sotos Syndrome, Beckwith-Wiedemann Syndrome, Overgrowth Syndrome, Body Image
- Trial name
- Body-PROBAND (NCT04993235)
- Testing
- NEPSY-II, CBCL and AQ questionnaires, BUT questionnaire and experimental tasks
- Where
- Italy
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Down Syndrome, Polyendocrinopathies, Autoimmune
Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome
This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome.
- Conditions
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
- Trial name
- NCT02421276
- Testing
- Phlebotomy
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Multiple Osteochondromas
Registry of Multiple Osteochondromas
REM is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains…
- Trial name
- REM (NCT04133285)
- Where
- Italy
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Luca Sangiorgi
Jaundice, Neonatal
Associations of Nighttime Light Exposure During Pregnancy With Neonatal Jaundice：a Multi-centre Prospective Study in China
Make a neonatal jaundiced nomogram on Chinese jaundice data by joinning the major neonate centers all around China.
- Trial name
- jaundice (NCT03805165)
- Where
- China
- Volunteers
- 2,977 people, healthy volunteers welcome
- Sponsor
- Guangdong Women and Children Hospital
Down Syndrome, Balance
The Effects of Kinesiotaping on Balance in Children With Down Syndrome.
This study aimed to explore the effects of Kinesio tape applied to plantar soles on balance in children with Down Syndrome (DS). Two groups including children with DS and a group with their typically developing peers evaluated.
- Trial name
- NCT04156607
- Testing
- Kinesio taping
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Gazi University
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
Infant, Newborn, Diseases, Congenital Malformations
Fast Exome for Diagnosis of Congenital Conditions in Infants Under 12 Months of Age Hospitalized in Intensive Care Unit
An early diagnosis of congenital malformations and suspected genetic conditions in critically ill infants is essential to perform specific adapted care, prevention, and give proper genetic counseling.
- Conditions
- Infant, Newborn, Diseases, Congenital Malformations, Intensive Care Unit, Neurologic Symptoms
- Trial name
- REUNIR (NCT03831035)
- Testing
- Genetic analyse by whole exome sequencing
- Where
- France
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
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
Primary Ciliary Dyskinesia
Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disease characterised by recurrent respiratory infections and subfertility due to dysfunction of cilia (brushes) of the lining cells.
- Trial name
- NCT00739817
- Where
- Israel
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- Ziv Hospital