Clinical trials: Genetics Disease
Apparent Mineralocorticoid Excess
An Investigation Into the Effect of Liquorice Ingestion on the Salivary Cortisol to Cortisone Molar Ratio
Aldosterone, the major mineralocorticoid hormone and cortisol, the major glucocorticoid hormone are produced in the adrenal gland.
- Trial name
- NCT02939144
- Testing
- Liquorice
- Where
- United Kingdom
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- The Royal Wolverhampton Hospitals NHS Trust
Atopic Dermatitis
A Single-ascending Dose (Part A) and Repeat-dose (Part B) Study to Investigate the Safety, Pharmacokinetics and Efficacy (Part B Only) of UCB1381 in Healthy Study Participants (Part A) and in Study Participants With Moderate to Severe Atopic Dermatitis (Part B)
The purpose of the study is to investigate the safety and tolerability of single-ascending doses of UCB1381 (intravenous and subcutaneous) in healthy study participants and after repeat intravenous dosing in study participants…
- Trial name
- NCT05277571
- Testing
- UCB1381
- Where
- 16 sites in United States
- Volunteers
- 109 people, healthy volunteers welcome
- Sponsor
- UCB Biopharma SRL
Rett Syndrome, RTT
Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome
To evaluate the efficacy of cannabidiol oral solution (GWP42003-P, CBD-OS) in reducing symptom severity when compared with placebo, in participants with Rett syndrome.
- Trial name
- ARCH (NCT03848832)
- Testing
- GWP42003-P
- Where
- 26 sites in United States, Italy and 2 more
- Volunteers
- 29 people
- Sponsor
- Jazz Pharmaceuticals
Sickle Cell Disease
Assessment of Algorithm-Based Hydroxyurea Dosing on Fetal Hemoglobin Response, Acute Complications, and Organ Function in People With Sickle Cell Disease
Background: Sickle cell disease (SCD) is a blood disease. The drug hydroxyurea (HU) is approved to prevent pain crises in people with SCD. Researchers want to see how higher doses of HU affect the blood.
- Trial name
- NCT02225132
- Testing
- Hydroxyurea
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Friedreich Ataxia
A Study of Vatiquinone for the Treatment of Participants With Friedreich Ataxia
The primary objective of the study is to assess the pharmacokinetics (PK) and safety of vatiquinone administered in participants with Friedreich ataxia (FA) younger than 7 years.
- Trial name
- NCT05485987
- Testing
- Vatiquinone
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- PTC Therapeutics
Hemophilia A
A Clinical Study to Evaluate the Effects of NXT007 Compared to Emicizumab Prophylaxis in People With Hemophilia A
The purpose of this study is to evaluate the efficacy, safety, pharmacokinetics, and pharmacodynamics of NXT007 prophylaxis compared with emicizumab prophylaxis in people age 12 years and older with severe or moderate congenital…
- Trial name
- ZEBRHA 2 (NCT07416604)
- Testing
- NXT007, Emicizumab
- Where
- 59 sites in United States, Argentina and 20 more
- Volunteers
- 360 people
- Sponsor
- Hoffmann-La Roche
Muscular Dystrophy, Duchenne and Becker Types
Effectiveness of a Multimodal Physiotherapy Program With Virtual Reality Glasses in Duchenne and Becker.
Duchenne's Muscular Dystrophy and Becker Dystrophy, hereafter DMD and BMD, is a serious and progressive disease that affects 1 in 3,500-6,000 males born alive.
- Trial name
- RVDuchenne (NCT03879304)
- Testing
- multimodal physiotherapy program with RV, traditional physiotherapy program
- Where
- Spain
- Volunteers
- 12 people
- Sponsor
- University of Malaga
Pseudoxanthoma Elasticum
A Study of DS-1211b in Individuals With PseudoXanthoma Elasticum
This study was designed to evaluate the safety, tolerability, pharmacodynamics (PD) of DS-1211b, and pharmacokinetics (PK) in individuals with Pseudoxanthoma elasticum (PXE).
- Trial name
- NCT05569252
- Testing
- DS-1211b
- Where
- 7 sites in United States, Netherlands
- Volunteers
- 65 people
- Sponsor
- Daiichi Sankyo
Sickle Cell Disease
Music Therapy in Sickle Cell Transition Study
The purpose of this study is to investigate the effects of the BEATS Music Therapy Program on the self-efficacy, trust, knowledge, and adherence of young adult patients with sickle cell disease during transition.
- Trial name
- NCT02466555
- Testing
- Music Therapy
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University Hospitals Cleveland Medical Center
Hemophilia A, Hemophilia B
Study of Ataluren (PTC124) in Hemophilia A and B
Hemophilia A (HA) and hemophilia B (HB) are inherited bleeding disorders caused by mutations in the gene for factor VIII (FVIII) and factor IX (FIX), respectively. These proteins are essential for blood clotting.
- Trial name
- NCT00947193
- Testing
- Ataluren
- Where
- 13 sites in United States, Canada and 2 more
- Volunteers
- 13 people
- Sponsor
- PTC Therapeutics
Spinocerebellar Ataxias, Spinocerebellar Ataxia Genotype Type 1
Trial in Adult Participants With Spinocerebellar Ataxia (SCA)
The primary purpose of this study was to compare the efficacy of BHV-4157 (Troriluzole) 140 milligrams (mg) once daily versus placebo after 8 weeks of treatment in participants with spinocerebellar ataxia (SCA).
- Conditions
- Spinocerebellar Ataxias, Spinocerebellar Ataxia Genotype Type 1, Spinocerebellar Ataxia Genotype Type 2, Spinocerebellar Ataxia Genotype Type 3
- Trial name
- NCT02960893
- Testing
- Troriluzole
- Where
- 18 sites in United States
- Volunteers
- 141 people
- Sponsor
- Biohaven Pharmaceuticals, Inc.
Cystic Fibrosis
Airway Clearance for Pediatric and Adult Cystic Fibrosis Patients Using a Portable Intra-Pulmonary Percussion Device
This is a pilot study where the investigators aim to compare initial use of the standard airway clearance device (SACD), most commonly used being High frequency vest airway clearance system (VEST) with subsequent use of a…
- Trial name
- NCT04743206
- Testing
- Standard Airway Clearance device, Portable Internal Airway Percussion device
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Florida
Sickle Cell Disease, Kidney Failure, Chronic
Kidney Function in Sickle Cell Anemia
This is a prospective clinical cohort study that involves a baseline study visit followed by up to 3 annual follow-up study visits for a total follow-up of 36-48 months to evaluate the age- and sex-adjusted rate of change in…
- Trial name
- NCT03277547
- Where
- 3 sites in United States
- Volunteers
- 300 people
- Sponsor
- Kenneth Ataga MD
Allergic Rhinitis, Asthma
The Significance of Ambrosia in Allergic Rhinitis and Asthma in Israel
Ambrosia is known for its allergenicity in the USA causing hay fever and asthma. Israel has always been considered "clean" of Ambrosia but over the past years growth of Ambrosia plants has been detected in several locations in…
- Conditions
- Allergic Rhinitis, Asthma, Allergic Conjunctivitis, Atopic Dermatitis
- Trial name
- NCT01686048
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Meir Medical Center
Creutzfeldt-Jakob Disease (CJD)
A Natural History Study of Preclinical Genetic Creutzfeldt-Jakob Disease (CJD)
Creutzfeldt-Jakob Disease (CJD) is the most common prion disease in humans causing a rapidly progressive neurological decline and dementia and is invariably fatal.
- Trial name
- NHS_CJD (NCT05746715)
- Where
- Israel
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Hyperlipidemia, Familial Combined, Coronary Disease
Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals
Familial combined hyperlipidemia (FCHL) is an inherited disorder characterized by elevated levels of cholesterol and triglycerides; it often occurs in Mexican individuals with coronary heart disease (CHD).
- Trial name
- NCT00365235
- Where
- Mexico
- Volunteers
- 998 people, healthy volunteers welcome
- Sponsor
- University of California, Los Angeles
Lysosomal Acid Lipase Deficiency, Wolman Disease
Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, intra-participant dose-escalation study of SBC-102 (sebelipase alfa) in children with growth failure due to lysosomal acid lipase (LAL) Deficiency.
- Trial name
- NCT01371825
- Testing
- Sebelipase alfa (SBC-102)
- Where
- 7 sites in United States, Egypt and 3 more
- Volunteers
- 9 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Cystic Fibrosis
Cystic Fibrosis Adherence Study
This study aims to assess the role of some factors which can influence the chest physiotherapy adherence in adult with cystic fibrosis. At first, we are going to try to consider the adherence of chest physiotherapy.
- Trial name
- KINOBS (NCT04217889)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 197 people
- Sponsor
- Hospices Civils de Lyon
Cystic Fibrosis (CF), Bronchiectasis Adult
Novel Sensors and Artificial Intelligence for Detection of Acute Pulmonary Exacerbations in Cystic Fibrosis and Bronchiectasis
The goal of this observational study is to learn about new sensors that measure changes in the body that happen during a chest infection, such as breathing rate and heart rate.
- Trial name
- NOVEL (NCT07289100)
- Testing
- Non-Interventional Study
- Where
- United Kingdom
- Volunteers
- 50 people
- Sponsor
- Papworth Hospital NHS Foundation Trust
Down Syndrome, Trisomy 21
Down Syndrome Metabolic Health Study
The purpose of this research study is to determine which measures best capture cardiovascular disease (CVD) risk and type 2 diabetes (T2DM) risk in children and adolescents with Down syndrome (DS).
- Trial name
- NCT01821300
- Where
- 2 sites in United States
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia