Clinical trials: CHARGE Syndrome
Rare Fetal Genetic Diseases, Congenital Malformation
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are: It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues…
- Trial name
- FOETEPISIGN (NCT06475651)
- Testing
- Methylation analysis
- Where
- France
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Prader-Willi Syndrome, PWS-like Syndrome
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism
- Trial name
- GROW UR GENES (NCT04463316)
- Testing
- Retrospective file studies
- Where
- Netherlands
- Volunteers
- 600 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
CHARGE Syndrome
Neurovisual Function in CHARGE Syndrome
The rationale of the study is to analyze visual function and correlate them with adaptive functions in patients with CHARGE syndrome in order to identify a pattern of specific indicators to enable better patient care
- Trial name
- NCT05764980
- Testing
- visual function evaluation
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Thoracic Outlet Syndrome
DEFILE-QoL5 - Evaluation of the Long-term Surgical Management of the Thoraco-brachial Displacement Syndrome
The study concerns patients hospitalized in vascular and thoracic surgery in 2016 at the University Hospital of Angers for the management of a thoraco-brachial outlet syndrome.
- Trial name
- DEFILE-QoL5 (NCT06036888)
- Testing
- questionaries completion
- Where
- France
- Volunteers
- 53 people
- Sponsor
- University Hospital, Angers
Acute Coronary Syndrome
Increasing Exercise Adherence After Percutaneous Coronary Intervention With the Fitbit Charge HR Device
Design: Single center, prospective, randomized study that will compare activity levels in patients who complete cardiac rehabilitation after clinically indicated percutaneous coronary intervention with and without use of the…
- Trial name
- INCENTIVE (NCT02788929)
- Testing
- Fitbit Charge HR
- Volunteers
- 40 people
- Sponsor
- North Texas Veterans Healthcare System
HIV Infection
Residual Risk Assessment Of HIV Transmission
The main objective of this one year multidisciplinary research is to estimate the frequency of seropositive men having sex with men (MSM) under antiretroviral therapy (ART) having an undetectable blood viral load (VL) and a…
- Trial name
- EP 49 EVARIST (NCT01413152)
- Testing
- blood and semen sampling, specific biological exams and biobank and self administered questionnaires
- Where
- France
- Volunteers
- 167 people
- Sponsor
- French National Agency for Research on AIDS and Viral Hepatitis
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
CHARGE Syndrome
A Strategic Approach to Safe and Effective Cochlear Implantation in Patients With CHARGE Syndrome
This retrospective observational study aims to evaluate cochlear anatomy, surgical challenges, and strategic approaches for safe cochlear implantation in pediatric patients with CHARGE syndrome.
- Trial name
- NCT07320482
- Testing
- No intervention (observational study)
- Where
- South Korea
- Volunteers
- 12 people
- Sponsor
- Seoul National University Bundang Hospital
Development Abnormalies, Inclusion on Clinical Criteria of the Syndrome
Clinical and Molecular Study of CHARGE Syndrom
1. Clinical description of a French cohort of patients with CHARGE syndrome. 2. Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome 3.
- Trial name
- CHARGE (NCT03186144)
- Testing
- Blodd punction for genetic analysis
- Where
- France
- Volunteers
- 141 people
- Sponsor
- Poitiers University Hospital
Hiv
Increasing PrEP With Trans Women in the Deep South
The goal of this to address barriers and facilitators to PrEP uptake, and encourage adherence among trans women via a single arm stepped wedge clinical trial.
- Trial name
- T'Cher (NCT05689281)
- Testing
- Peer PrEP Navigation
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- CrescentCare
Fibromyalgia
Fibromyalgia Syndrome in France: The Role of Assessment and Management of Sleep Disorders
The FIBOBS study is a multi-centered, observational, prospective study carried out within specialized chronic pain structures (CPS) in France.
- Trial name
- FIBOBS (NCT04775368)
- Testing
- Administering diagnosis orientation questionnaires for the screening of possible sleep disorders
- Where
- 46 sites in France
- Volunteers
- 598 people
- Sponsor
- Centre Hospitalier Emile Roux
Acute Coronary Syndrome
Diagnostic Value of Heart-Fatty Acid Binding Protein and Ischemia Modified Albumin as Biochemical Markers on Non ST Segment Elevation Acute Coronary Syndrome at the Emergency Room.
Early diagnostic of non ST elevation coronary syndrome in patients admitted to the emergency room is difficult. Two news biochemical markers have been assessed and studies have suggested that heart fatty binding protein and…
- Trial name
- NCT00714298
- Testing
- Measure of Initial heart fatty acid binding protein and ischemia modified albumin
- Where
- France
- Volunteers
- 700 people
- Sponsor
- University Hospital, Toulouse
Hiv, Adherence, Medication
Making ART Work Among Brazilian Youth
This study seeks to develop and pilot test a theory-based, integrated technology and counseling intervention to improve ART adherence among sexual and gender minority (SGM) young people living with HIV (ages 18-24) in Rio de…
- Trial name
- NCT06056037
- Testing
- Experimental: Making ART Work, Standard of Care
- Where
- Brazil
- Volunteers
- 30 people
- Sponsor
- Brown University