Clinical trials: Syndrome X
Rett Syndrome, RTT
Neurophysiologic Biomarkers in Rett Syndrome
The goal of this observational study is to identify candidate biomarkers in individuals with Rett Syndrome (RTT). The main questions it aims to answer are: Do these biomarkers change during clinical changes in individuals with…
- Conditions
- Rett Syndrome, RTT, Rett Syndrome, Atypical
- Trial name
- NCT05932589
- Testing
- EEG and Auditory and Visual Evoked Potentials (AEP and VEP), Clinical assessment
- Where
- 6 sites in United States
- Volunteers
- 222 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
X-linked Hypohidrotic Ectodermal Dysplasia
Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
The goal of the ECP-002e extension study is to continue the evaluation of all EDI200-treated ECP-002 subjects up to age 10 yrs. No additional study drug administration is planned.
- Trial name
- ECP-002e (NCT01992289)
- Testing
- EDI200
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 10 people
- Sponsor
- Edimer Pharmaceuticals
Long COVID
Mental Intervention and Nicotinamide Riboside Supplementation in Long Covid
Long COVID, also referred to as post-acute sequela of COVID-19 (PASC), is present in a substantial number of individuals, and treatment for this is warranted.
- Trial name
- MINIRICO (NCT05703074)
- Testing
- Nicotinamide Riboside (NR), Mind-body reprocessing therapy (MBRT), Care as usual
- Where
- Norway
- Volunteers
- 310 people
- Sponsor
- University Hospital, Akershus
Hypertension, Metabolic Syndrome X
Phase IV, 9 Weeks Comparison Between MICARDIS 80 mg and Amlodipine 10 mg on Biological PPAR Gamma Activities
The objective of the study is to compare PPAR activities (increase of adiponectin level) between MICARDIS and amlodipine after 6 weeks of treatment in hypertensive patients with metabolic syndrome.
- Trial name
- NCT00242814
- Testing
- Micardis, Amlodipine, Abdominal biopsy
- Where
- 31 sites in France
- Volunteers
- 100 people
- Sponsor
- Boehringer Ingelheim
Mitochondrial Diseases, Kearns-Sayre Syndrome
Global Registry and Natural History Study for Mitochondrial Disorders
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome…
- Conditions
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO
- Trial name
- GENOMIT (NCT05554835)
- Where
- 34 sites in Austria, Germany and 1 more
- Volunteers
- 6,000 people
- Sponsor
- LMU Klinikum
Anxiety Disorders, Child Developmental Disorders, Pervasive
Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down Syndromes
By testing physiological responses to anxiety in people with nervous system developmental disorders, this study will identify specific physiological characteristics associated with response to anxiety treatments.
- Trial name
- NCT00879515
- Where
- United States
- Volunteers
- 511 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Wiskott-Aldrich Syndrome (WAS), X-linked Thrombocytopenia
Interleukin-2 Treatment for Wiskott-Aldrich Syndrome
Funding Source--FDA OOPD. Orphan Product Grant Number--1R01FD004091-01A1 Context: Wiskott-Aldrich syndrome (WAS) is a fatal, devastating disease with ill-defined treatment modalities, which affects young boys.
- Trial name
- WAS (NCT00774358)
- Testing
- Interleukin-2
- Where
- 3 sites in United States
- Volunteers
- 9 people
- Sponsor
- Soma Jyonouchi
Angina Pectoris, Myocardial Ischemia
Self Expanding Coronary Sinus Reducer for Treatment of Symptomatic Coronary Microvascular Dysfunction (CMD)
VahatiCor's Coronary Sinus Reducer (A-FLUX) has been designed to improve angina or angina-like symptoms in patients with CMD. SERRA-I is an early feasibility study that evaluates the safety and clinical performance of the A-FLUX…
- Conditions
- Angina Pectoris, Myocardial Ischemia, Heart Diseases, Cardiovascular Diseases
- Trial name
- SERRA-I US (NCT07449325)
- Testing
- A-FLUX Reducer System
- Where
- 3 sites in United States
- Volunteers
- 30 people
- Sponsor
- VahatiCor, Inc.
Adenosine Deaminase Deficiency, Autosomal Recessive Disorder
Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant
This pilot clinical trial studies total-body irradiation followed by cyclosporine and mycophenolate mofetil in treating patients with severe combined immunodeficiency (SCID) undergoing donor bone marrow transplant.
- Conditions
- Adenosine Deaminase Deficiency, Autosomal Recessive Disorder, Immune System Disorder, Purine-Nucleoside Phosphorylase Deficiency
- Trial name
- NCT00008450
- Testing
- Allogeneic Bone Marrow Transplantation, Cyclosporine, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Fred Hutchinson Cancer Center
Coronary Microvascular Disease, Microvascular Disease
Hyperoxia and Microvascular Dysfunction
Coronary artery disease (CAD) pathophysiology involves endothelium-dependent (e.g. nitric oxide, acetylcholine) and -independent (e.g.
- Conditions
- Coronary Microvascular Disease, Microvascular Disease, Ischemic Heart Disease
- Trial name
- NCT04321434
- Testing
- Hyperoxia, Normoxia, laser Doppler
- Where
- Belgium
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Université Libre de Bruxelles
Chronic Granulomatous Disease
Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995
This study is a longitudinal and cross-sectional evaluation of patients with Chronic Granulomatous Disease (CGD) who received or are receiving hematopoietic cell transplantation (HCT) for their disease under a variety of…
- Trial name
- NCT02116764
- Where
- United States
- Volunteers
- 137 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Severe Combined Immunodeficiency, Fanconi Anemia
Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts
Allogeneic stem cell transplantation (alloSCT) is utilized for various underlying diseases. AlloSCT is limited by graft versus host disease (GVHD), graft rejection, viral infections, and post-transplant lymphoproliferative…
- Conditions
- Severe Combined Immunodeficiency, Fanconi Anemia, Dyskeratosis Congenita, Sickle Cell Disease
- Trial name
- NCT06731036
- Testing
- CD34+ cell enriched stem cell graft
- Sponsor
- University of Florida
Sleep Apnea Syndrome, Malocclusion
Pharyngeal Size in Patients With Obstructive Tonsils Under Orthodontic Treatment
Enlarged tonsils and malocclusion have relationship with sleep disturbance in children. The consequences of these features can include deviation of normal craniofacial growth such that this may result in a facial morphology more…
- Trial name
- NCT01164631
- Testing
- Bioajusta X Orthodontic treatment
- Volunteers
- 40 people
- Sponsor
- University of Sao Paulo General Hospital
Metabolic Syndrome X, Insulin Resistance
Impact of Meal Order on Postprandial Cardiometabolic Risk Markers
The order in which the different components of a meal are eaten may have impact on the postprandial metabolic responses to carbohydrates, fat and proteins.
- Conditions
- Metabolic Syndrome X, Insulin Resistance, Hyperinsulinism, Glucose Metabolism Disorders
- Trial name
- NCT03358745
- Testing
- Standard meal, bread/butter as starter, Standard meal with soup as starter, Standard meal with cheese as starter
- Where
- 2 sites in Sweden
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Lund University
Endothelial Dysfunction, Coronary Microvascular Disease
Functional Assessment of the Infart-related Artery With Bioactive and Polymer-free Coronary Stents (The FUNCOMBO Trial)
A total of 50 patients with ST-elevation myocardial infarction (STEMI) undergoing primary-percutaneous coronary intervention (PPCI) will be randomized to two different coronary stents: BIOFREEDOM vs. COMBO stent.
- Conditions
- Endothelial Dysfunction, Coronary Microvascular Disease, Myocardial Infarction
- Trial name
- FUNCOMBO (NCT04202172)
- Testing
- Stent implantation in the infart-related artery in patients with ST elevation myocardial infarction
- Where
- Spain
- Volunteers
- 60 people
- Sponsor
- Institut d'Investigació Biomèdica de Bellvitge
Down Syndrome, Fragile X Syndrome
Pediatric Exploratory Research Study of EGCG Use and Safety (PERSEUS)
To evaluate safety and tolerability of epigallocatechin gallate (EGCG) in children from 6 to 12 years old with Intellectual Developmental Disorders (IDD) (Down syndrome or Fragile X syndrome).
- Trial name
- PERSEUS (NCT03624556)
- Testing
- EGCG FontUp
- Where
- Spain
- Volunteers
- 76 people
- Sponsor
- Parc de Salut Mar
Metabolic Syndrome X
Walnut Intervention on Metabolic Syndrome (WIMS)
The purpose of this study is to determine whether a daily supplement of 30 grams of walnut is effective in the treatment of metabolic syndrome (MetS).
- Trial name
- WIMS (NCT00742742)
- Testing
- healthy life style education
- Where
- China
- Volunteers
- 189 people
- Sponsor
- Chinese Academy of Sciences
Microvascular Angina
The Value of Measuring Retinal Vascular Density by Optical Coherence Tomography-Angiography (OCT-A) in Patients With Microvascular Angina Confirmed by Myocardial Microcirculatory Resistance Index (MRI).
Microvascular angina is thought to affect around 112 million patients worldwide. However, this figure is underestimated due to the difficulty of making the diagnosis.
- Trial name
- EYE-NOCA (NCT06692751)
- Testing
- Blood sampling, Ophthalmological examination, angina severity questionnaire
- Where
- France
- Volunteers
- 52 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
E1 Ubiqutin-activating Enzyme, X-linked, Autoinflammatory, Somatic Syndrome, VEXAS
Pacritinib in Vacuoles, E1 Ubiqutin-activating Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome
VEXAS (vacuoles, E1 ubiqutin-activating enzyme, X-linked, autoinflammatory, somatic syndrome) is a recently described disorder with severe hematologic and rheumatologic manifestations caused by somatic variants in the ubiquitin…
- Conditions
- E1 Ubiqutin-activating Enzyme, X-linked, Autoinflammatory, Somatic Syndrome, VEXAS, Vexas Syndrome
- Trial name
- NCT06538181
- Testing
- Pacritinib
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Washington University School of Medicine
Fragile X Syndrome
A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome
The study will consist of a Screening period (up to 14 days), a Treatment period, and a Follow-Up period. Sixteen subjects will be enrolled into two sequential dose cohorts - 10 or 30 mg (or matching placebo) across four study…
- Trial name
- NCT01325740
- Testing
- STX107
- Where
- 5 sites in United States
- Volunteers
- 16 people
- Sponsor
- Seaside Therapeutics, Inc.