Clinical trials: Genetic Conditions
Cystic Fibrosis
Effects of an Antioxidant-Enriched Multivitamin Supplement on Inflammation and Oxidative Stress in Cystic Fibrosis
The purpose of this study will be to evaluate the effects of a modified formulation of AquADEKs (AquADEKs-2) on markers of inflammation, antioxidant levels and oxidative stress.
- Trial name
- AquADEKs-2 (NCT01859390)
- Testing
- AquADEKs-2, control multivitamin
- Where
- 15 sites in United States
- Volunteers
- 73 people
- Sponsor
- University of Colorado, Denver
Porphyria
Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias
OBJECTIVES: I. Compare the efficacy of heme arginate, singly or in combination with tin mesoporphyrin, in lowering porphyrin precursors in patients with asymptomatic acute intermittent porphyria. II.
- Trial name
- NCT00004396
- Testing
- heme arginate, tin mesoporphyrin
- Where
- 2 sites in United States
- Volunteers
- 32 people
- Sponsor
- National Center for Research Resources (NCRR)
Cardiovascular Diseases, Coronary Disease
Genetics of Atherosclerosis in Mexican Americans
To identify individual genes that contribute to variation in susceptibility to coronary heart disease (CHD) in Mexican Americans.
- Conditions
- Cardiovascular Diseases, Coronary Disease, Obesity, Atherosclerosis
- Trial name
- NCT00005462
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
NAFLD
A Gender and Culturally Specific Approach to Reduce NAFLD in Mexican-American Men
Using a small Randomized Controlled Trial (RCT) study design, PNPLA3 risk allele carriers (CG/GG genotype) with NAFLD, will be assigned 2:1 to a tailored NAFLD-specific weight loss intervention compared to a wait-list control…
- Trial name
- NCT04186260
- Testing
- NAFLD-specific weight loss intervention, Wait-list control
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- University of Arizona
Pain, Cystic Fibrosis
Pain in Patients With Cystic Fibrosis in Rouen University Hospital
Objectif Principal To evaluate the intensity and frequency of pain episodes in patients with cystic fibrosis followed at the cystic fibrosis center of Rouen University Hospital, Normandy, France.
- Trial name
- MUCODOL (NCT04561973)
- Testing
- numerical rating scale
- Where
- France
- Volunteers
- 109 people
- Sponsor
- University Hospital, Rouen
Brain and Central Nervous System Tumors, Chordoma
Polyvinylpyrrolidone-Sodium Hyaluronate Gel in Reducing Pain From Oral Mucositis in Young Patients With Cancer
RATIONALE: Polyvinylpyrrolidone-sodium hyaluronate gel may lessen the pain of oral mucositis, or mouth sores, in patients undergoing treatment for cancer.
- Conditions
- Brain and Central Nervous System Tumors, Chordoma, Kidney Cancer, Leukemia
- Trial name
- NCT00349024
- Testing
- polyvinylpyrrolidone-sodium hyaluronate gel
- Where
- 21 sites in Ireland, United Kingdom
- Volunteers
- 50 people
- Sponsor
- Children's Cancer and Leukaemia Group
Intellectual Disabilities (F70-F79), Down Syndrome (DS)
Using Technologies to Promote HEalthy Lifestyles in Adolescents With Intellectual Disabilities
IDHEApp will implement various educational technology tools and work with the families, teachers and caregivers to increase physical activity (PA) and improve healthy eating.
- Conditions
- Intellectual Disabilities (F70-F79), Down Syndrome (DS), Autism Disorder
- Trial name
- IDHEAPP (NCT07101523)
- Testing
- mHealth
- Where
- Spain
- Volunteers
- 60 people
- Sponsor
- University of Seville
Sepsis, Systemic Inflammatory Response Syndrome
Influence of Age, Sepsis and SLCO1A2 Polymorphisms on Rocuronium Pharmacokinetics
This study aims to evaluate the influence of age and sepsis on in vivo activity of OATP1A2 using rocuronium (ROC) as a probe and evaluating the pharmacokinetics and pharmacodynamics in ASA I-III surgical patients.
- Conditions
- Sepsis, Systemic Inflammatory Response Syndrome, Septic Shock
- Trial name
- ROCSEPSIS (NCT02399397)
- Testing
- Serial blood sampling, Train of four monitoring, Blood testing for liver and renal function
- Where
- Brazil
- Volunteers
- 36 people
- Sponsor
- Universidade Estadual Paulista Júlio de Mesquita Filho
Myeloid Leukemia
Retrospective Observational Research Study to Describe the Real World Use of Bosutinib in a Single Centre in Scotland
This study will describe the efficacy and safety of bosutinib in patients with chronic myeloid leukaemia (CML) used in a real world clinical practice setting.
- Trial name
- NCT05363488
- Testing
- Bosutinib
- Where
- United Kingdom
- Volunteers
- 17 people
- Sponsor
- Pfizer
Sickle Cell Disease
Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease - Sickle With Ibuprofen & Morphine
The use of oral ibuprofen combined with Opioid (Morphine or Diamorphine) administered through patient controlled analgesia (PCA) will be clinically effective for acute pain crisis in adults with sickle cell disease (SCD).
- Trial name
- SWIM (NCT00880373)
- Testing
- Ibuprofen, Diamorphine or Morphine
- Where
- 2 sites in United Kingdom
- Volunteers
- 320 people
- Sponsor
- London North West Healthcare NHS Trust
Xeroderma Pigmentosum
Xeroderma Pigmentosum Patient Experiences
Xeroderma Pigmentosum (XP) is a rare skin condition that causes extreme sensitivity to the sun and an increased incidence of skin cancers.
- Trial name
- NCT01123694
- Testing
- Survey Study
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Henry Ford Health System
Brugada Syndrome (BrS), Ventricular Arrhythmia
Prospective Multicentre Observational Registry of Peri-procedural Anaesthesia, Sedation and Related Medication Exposure in Patients With Brugada Syndrome
The goal of this observational study is to evaluate the perioperative risk of malignant ventricular arrhythmias in adult patients diagnosed with Brugada Syndrome undergoing anaesthetic procedures.
- Conditions
- Brugada Syndrome (BrS), Ventricular Arrhythmia, Anesthesia, Sedation
- Trial name
- PROSP_BRUGANAE (NCT07655102)
- Where
- Spain
- Volunteers
- 200 people
- Sponsor
- Hospital Clinic of Barcelona
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
Hemochromatosis, Type 4, Ferroportin Disease
Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis.
The diagnosis of iron overload is a common problem. It is important to optimize the diagnosis to ensure support for patients and their relatives especially regarding genetic disease.
- Conditions
- Hemochromatosis, Type 4, Ferroportin Disease, Dysmetabolic Hepatosiderosis, Diagnosis
- Trial name
- NCT01949467
- Testing
- iron fumarate
- Where
- 4 sites in France
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Rennes University Hospital
Irritable Bowel Syndrome Constipation Predominant
Effects of ROSE-010 on GI Transit in Constipation Predominant Irritable Bowel Syndrome (C-IBS) Patients
This trial will study the effects of an investigational (not FDA approved) medication, ROSE-010, on the movement of food through the stomach, small intestine and colon in females with constipation predominant irritable bowel…
- Trial name
- NCT01056107
- Testing
- ROSE-010
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- Mayo Clinic
Rare Genetic Disease
Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia.
- Trial name
- ARNseqFibroSan (NCT07075107)
- Testing
- Blood collection, skin biopsy
- Where
- France
- Volunteers
- 62 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Polycystic Kidney Diseases, Polycystic Liver Disease
The Association Between Skeletal Muscle Mass and Severity of Polycystic Liver Disease and Polycystic Kidney Disease
Primary sarcopenia is used to describe aging and progressed with the physiologic decline. Secondary sarcopenia is associated many chronic disease, including acquired immune deficiency syndrome, cancer, chronic heart failure…
- Conditions
- Polycystic Kidney Diseases, Polycystic Liver Disease, Muscle Loss
- Trial name
- NCT05215964
- Testing
- Renal artery embolization
- Where
- Taiwan
- Volunteers
- 600 people
- Sponsor
- National Taiwan University Hospital
Epithelial Ovarian Cancer, Nucleotide Variant
Genetic Mutation in Epithelial Ovarian Cancer
Little is known about the characteristics of genetic mutation in a large multi-gene panel in epithelial ovarian cancer. This study is to explore the targeted genetic mutations via a multi-gene panel, which consists of more than…
- Conditions
- Epithelial Ovarian Cancer, Nucleotide Variant, Copy Number Variation, Insertion-deletion Variation
- Trial name
- NCT04191252
- Testing
- A multi-gene panel testing
- Where
- China
- Volunteers
- 500 people
- Sponsor
- Lei Li
Alpha-1 Antitrypsin Deficiency
A Phase 1b/2a, Open-label Single Ascending Doses and Multiple Ascending Doses Study in Participants With Pi*ZZ AATD
The purpose of this open-label study is to assess the safety, tolerability, pharmacodynamics, and pharmacokinetics of WVE-006 in participants with alpha-1 antitrypsin deficiency (AATD) following Period 1 single ascending dose…
- Trial name
- NCT06405633
- Testing
- WVE-006
- Where
- 9 sites in Australia, Canada and 4 more
- Volunteers
- 48 people
- Sponsor
- Wave Life Sciences USA, Inc.
Irritable Bowel Syndrome, Digestive System Diseases
Efficacy of a Multi-strain Probiotic in the Treatment of Irritable Bowel Syndrome (IBS)
The Canadian College of Naturopathic Medicine is conducting a research study on Irritable Bowel Syndrome (IBS), a common condition in North America.
- Conditions
- Irritable Bowel Syndrome, Digestive System Diseases, Colonic Diseases, Functional, Colitis, Mucous
- Trial name
- NCT01176227
- Testing
- Kyodophilus multi-strain probiotic capsules
- Where
- Canada
- Volunteers
- 128 people
- Sponsor
- The Canadian College of Naturopathic Medicine
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