Clinical trials: Inherited Genetic Conditions (Diagnosis)
Ischemic Cardiomyopathy, Dilated Cardiomyopathy
Inflammation, Cardiac Sympathetic Innervation, and Arrhythmic Sudden Death
Despite pharmacologic advances for the treatment of congestive heart failure (HF), sudden cardiac death (SCD) and pump failure remain the leading causes of mortality in patients with HF.
- Conditions
- Ischemic Cardiomyopathy, Dilated Cardiomyopathy, Inflammation, Sudden Cardiac Death
- Trial name
- NCT01919983
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Johns Hopkins University
Hemophilia
Movement Visualization in Patients With Hemophilic Arthropathy
Background. The recurrence of hemarthrosis in patients with hemophilia favors the development of an intra-articular, degenerative and progressive lesion (hemophilic arthropathy).
- Trial name
- NCT04237766
- Testing
- Experimental group
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- Real Fundación Victoria Eugenia
Cystic Fibrosis
Study of Hepatic Glucose Production and De Novo Lipogenesis in Patients With Cystic Fibrosis
OBJECTIVES: I. Determine the amount of hepatic glucose production derived from gluconeogenesis and glycogenolysis in the post-absorptive state in patients with cystic fibrosis. II.
- Trial name
- NCT00014781
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- University of Utah
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
Fanconi Anemia
Eltrombopag for Fanconi Anemia
Background: Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This means their bone marrow no longer works properly.
- Trial name
- NCT03206086
- Testing
- Eltrombopag
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Cystic Fibrosis
Ghrelin in Cystic Fibrosis
Background to ghrelin Ghrelin is a naturally occurring hormone found in the blood which stimulates appetite. In healthy individuals, levels of ghrelin are high before a meal and falls afterwards.
- Trial name
- ghrelin (NCT00763477)
- Testing
- ghrelin
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- Papworth Hospital NHS Foundation Trust
Atopic Dermatitis, Prurigo Nodularis
Effect of EMD Protocol for Urge on Dermatology-specific Quality of Life
The primary objective of this open randomised controlled trial is to assess the add-on effect of EMD-U compared to CAU alone, in improving dermatology-specific quality of life in patients with atopic dermatitis or prurigo…
- Trial name
- EMD-U vs CAU (NCT06427122)
- Testing
- EMD Protocol for Urge, Care as Usual
- Where
- Netherlands
- Volunteers
- 96 people
- Sponsor
- Tamar Nijsten
Dilated Cardiomyopathy, Primary Prevention of Sudden Cardiac Death
Electrophysiologic and Morphologic Assessment of the Substrate to Guide Implantation of Defibrillators in Dilated Cardiomyopathy
With the present study the investigators intend to identify the morphologic and electrophysiologic substrate markers of increased arrhythmic risk in patients with dilated cardiomyopathy undergoing implantation of a defibrillator…
- Conditions
- Dilated Cardiomyopathy, Primary Prevention of Sudden Cardiac Death, Implantable Cardioverter Defibrillator
- Trial name
- EMOSIDD (NCT01378572)
- Where
- 3 sites in United States, Italy
- Volunteers
- 200 people
- Sponsor
- Catholic University of the Sacred Heart
Huntington Disease
A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease
The main goal of this study is to evaluate the safety, tolerability, and preliminary efficacy of SPK-10001 in participants with Huntington's Disease.
- Trial name
- NCT06826612
- Testing
- SPK-10001
- Where
- 5 sites in United States
- Volunteers
- 53 people
- Sponsor
- Hoffmann-La Roche
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Chronic Granulomatous Disease
Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease
This study will investigate the safety and effectiveness of a modified stem cell transplant procedure for treating chronic granulomatous disease (CGD) in patients with active infection.
- Trial name
- NCT00001765
- Testing
- Nexell Isolex with T-cell Depletion, Baxter isolex 300i
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Dermatitis, Atopic, Pruritus
A Study to Evaluate the Anti-pruritic Effectiveness of ASN008 in Adults With Mild to Moderate Atopic Dermatitis
The goal of this clinical trial is to evaluate ASN008 in people with itch caused by eczema. The main questions it aims to answer are: What is the efficacy and safety of ASN008? What is the impact of ASN008 on itch in patients…
- Trial name
- NCT05870865
- Testing
- ASN008, ASN008 Matching Vehicle
- Where
- 27 sites in United States
- Volunteers
- 144 people
- Sponsor
- Formation Bio, Inc.
Cancer
Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation
RATIONALE: Antivirals such as valacyclovir act against viruses and may be effective in preventing cytomegalovirus. It is not yet known if valacyclovir is effective in preventing cytomegalovirus in patients undergoing stem cell…
- Trial name
- NCT00045292
- Testing
- acyclovir, acyclovir sodium, valacyclovir
- Where
- 6 sites in United States
- Sponsor
- Fred Hutchinson Cancer Center
Vulvar Lichen Sclerosus
The CO2RE® System for Vulvar Lichen Sclerosus
Subjects with vulvar lichen sclerosus (VLS) will undergo fractional carbon dioxide (CO2) laser treatment to the vulvar area. Subjects will be evaluated for changes in clinical signs and architectural changes associated with VLS…
- Trial name
- NCT04148651
- Testing
- The CO2RE® System
- Where
- 4 sites in United States
- Volunteers
- 14 people
- Sponsor
- Candela Corporation
Fragile X Syndrome, Genetic Diseases
Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
The purpose of the study is to test the efficacy of a 20 week multi-modal treatment comprised of lovastatin or placebo, and the Parent-implemented Language Intervention (PILI) in children with fragile X syndrome (FXS).
- Trial name
- NCT02642653
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, Davis
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
Cryopyrin-associated Periodic Syndromes (CAPS)
Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of JTE-162 in Subjects With Cryopyrin-Associated Periodic Syndrome (CAPS)
This study will evaluate the efficacy, safety, tolerability and pharmacokinetics of JTE-162 administered once daily for 2 weeks in subjects with cryopyrin-associated periodic syndrome (CAPS)
- Trial name
- NCT07247266
- Testing
- JTE-162
- Where
- Canada
- Volunteers
- 5 people
- Sponsor
- Shionogi Inc.
Pruritus, Atopic Dermatitis
Blinded, Randomized Study Evaluating Aurstat Versus Control in the Treatment of Atopic Dermatitis Associated Pruritus
To demonstrate the ability of Aurstat to reduce pruritus in subjects with mild to moderate atopic dermatitis. Efficacy results will be based on subject assessment, IGA, and photographic evidence based on ordinal scales for…
- Trial name
- AUR0613 (NCT01905631)
- Testing
- Aurstat Anti-Itch Hydrogel (Aurstat)
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- The Center for Clinical and Cosmetic Research
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Cystic Fibrosis, Methicillin-resistant Staphylococcus Aureus
Pharmacokinetics of Vancomycin for Inhalation in Cystic Fibrosis
The purpose of this study is to determine the pharmacokinetics and safety of inhaled vancomycin in patients with cystic fibrosis.
- Trial name
- NCT01509339
- Testing
- Vancomycin
- Where
- United States
- Sponsor
- Case Western Reserve University
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