Clinical trials: Genetic Profile
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
Crohn's Disease, Genetic Predisposition
Abnormal Fecal Microbiota in Healthy Subjects at High Risk for Crohn's Disease
Transversal multicentric French study on the microbiota in patients with Crohn's disease and their first degree healthy relatives The primary objective is the comparison of microbiota between patients with CD, healthy controls…
- Trial name
- MAGIC (NCT02826330)
- Testing
- biomarkers
- Where
- 10 sites in France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Atopic Dermatitis (AD), Scabies
Secondary Bacterial Infections and Nasal Colonization in Scabies and Atopic Dermatitis
This prospective observational study will evaluate the microbiological profile of secondary bacterial infection and nasal colonization in participants with scabies or atopic dermatitis.
- Conditions
- Atopic Dermatitis (AD), Scabies, Impetigo
- Trial name
- NCT07813611
- Where
- Turkey (Türkiye)
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Istanbul Medeniyet University
Spinal Muscular Atrophy
Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study
This study aims to characterize the clinical-epidemiological profile and baseline characteristics of patients with spinal muscular atrophy (SMA) 5q types II and III in follow-up at the Brazilian Unified Public Health System…
- Trial name
- NCT04404764
- Testing
- Nusinersen Injectable Product
- Where
- 9 sites in Brazil
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- Hospital Israelita Albert Einstein
Pain
Genetic Basis For Variation In NSAID Analgesia In A Clinical Model Of Acute Pain
This study will evaluate how genetic makeup contributes to the variation in people regarding their sensitivity to and experience of pain.
- Trial name
- NCT00115752
- Testing
- Valdecoxib, COX Inhibitor
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- National Institute of Nursing Research (NINR)
Friedreich Ataxia
Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
Friedreich's Ataxia (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence.
- Trial name
- CPCAF (NCT05874388)
- Where
- France
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Premature Infants, Cerebral Palsy
Interrater Reliability of Infant Motor Profile
The aim of this study is to assess risky infants (or diagnosed infants) with Infant Motor Profile, and analyze interrater and intrarater reliability of this test.
- Conditions
- Premature Infants, Cerebral Palsy, Down Syndrome, Metabolic Disorders
- Trial name
- IMP (NCT03188107)
- Testing
- Video based assessment
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Abant Izzet Baysal University
Gene Abnormality, Acute Aortic Syndrome
Genetic Profile in Patients With Aortic Syndrome
The overall prevalence has increased significantly in the general population, which may be due in part to advances in diagnostic techniques, such as improved imaging techniques.
- Trial name
- GEN-AOR (NCT04751058)
- Testing
- genetic analysis
- Where
- 2 sites in Spain
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- Hospitales Universitarios Virgen del Rocío
Juvenile Idiopathic Arthritis (JIA), Familial Mediterranean Fever (FMF )
Gait Profile and Variables in Pediatric Rheumatic Disease Using a Smart Insole System
In pediatric rheumatic diseases, joint swelling, effusion, tenderness, and painful restriction of joint movement, particularly in weight-bearing joints, frequently alter walking function.
- Conditions
- Juvenile Idiopathic Arthritis (JIA), Familial Mediterranean Fever (FMF ), Healthy Controls
- Trial name
- NCT06705673
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
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
Eczema/Atopic Dermatitis, Cancer
Patient Forward Access to Clinical and Technological Research: Genetic Influences on Cancer and Atopic Dermatitis
This Patient Forward study intends to conduct research to investigate potential genetic factors causing cancer and eczema/atopic dermatitis.
- Trial name
- PFACTR02 (NCT04362852)
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Duchenne Muscular Dystrophy
Neuropsychological Profiles of Children With Duchenne Muscular Dystrophy and Its Effects on Motor Functions
This study was planned to determine neuropsychological profiles of children with Duchenne Muscular Dystrophy and investigation of its effects on motor functions \& compare to typically developed peers.
- Trial name
- NCT05661071
- Testing
- Modified Mini Mental Test:, The Controlled Oral Word Association Test, The Central Nervous System Vital Signs
- Where
- Turkey (Türkiye)
- Volunteers
- 74 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Growth Hormone Deficiency, Idiopathic Short Stature
Skeletal Muscle Effects of GH in Boys
The purpose of the study is to measure the functional effects of recombinant GH in skeletal muscle, in addition to growth promotion, in short prepubertal boys with either growth hormone deficiency or idiopathic short stature.
- Trial name
- NCT04020913
- Testing
- Somatropin injection
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Atherosclerosis, Hypercholesterolemia
Impact of Consumption of Oats in Lipid Profile of Children and Adolescents With Dyslipidemia
Atherosclerosis is the leading cause of death and disability in adults. However, investigations suggest that the basic pathology of heart disease as more severe myocardial infarction which usually reach mainly middle-aged or…
- Trial name
- NCT01581697
- Testing
- Oat bran
- Where
- Brazil
- Volunteers
- healthy volunteers welcome
- Sponsor
- Instituto de Cardiologia do Rio Grande do Sul
Coronavirus Infection (COVID-19), Pulmonary Arterial Hypertension
Pharmacokinetics, Pharmacodynamics, and Safety Profile of Understudied Drugs Administered to Children Per Standard of Care (POPS)
The study investigators are interested in learning more about how drugs, that are given to children by their health care provider, act in the bodies of children and young adults in hopes to find the most safe and effective dose…
- Conditions
- Coronavirus Infection (COVID-19), Pulmonary Arterial Hypertension, Urinary Tract Infections in Children, Hypertension
- Trial name
- POPS or POP02 (NCT04278404)
- Testing
- The POP02 study is collecting bodily fluid samples (i.e., whole blood, effluent samples) of children prescribed the following drugs of interest per standard of care:
- Where
- 52 sites in United States, Canada
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Duke University
Down Syndrome
Functional Communicative Profile of Children With Down Syndrome
The aim of this study was to verify the use of communicative functions by children with DS in two interaction conditions: interaction with therapist and interaction with parent.
- Trial name
- NCT00844259
- Where
- Brazil
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Prader-Willi Syndrome
PWS European Blood Bank for Infants and Controls From 0 to 48 Months
The present project aims to determine the underlying mechanisms for the switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in PWS.
- Trial name
- NCT02529085
- Testing
- blood samples
- Where
- 6 sites in Belgium, France and 4 more
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
Von Willebrand Disease
Molecular and Clinical Profile of Von Willebrand Disease in Spain
The present Project is a third phase of the previous PCM-EVW-ES Project (Batlle et al. Thromb \& Haemost 2015) with the aim of its extension, further analysis with an innovation development in the field of von Willebrand disease…
- Trial name
- PCM-EVW-ES (NCT02869074)
- Testing
- VWF gene analysis
- Where
- Spain
- Volunteers
- 790 people, healthy volunteers welcome
- Sponsor
- Spanish Society of Thrombosis and Haemostasis
Scleroderma, Localized, Morphea
Morphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA Repository
The Morphea in Adults and Children (MAC) cohort is the first registry for both children and adults with morphea (also known as localized scleroderma) in the country.
- Conditions
- Scleroderma, Localized, Morphea, Frontal Linear Scleroderma en Coup de Sabre, Scleroderma, Circumscribed
- Trial name
- MAC (NCT01808937)
- Testing
- Morphea
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center