Clinical trials: Genetic Disorders
Cystic Fibrosis
Viral Pathogenesis of Early Cystic Fibrosis Lung Disease
The purpose of this study is to test the hypothesis that early viral infections alter the bacterial flora and inflammatory profile in the airway and accelerate progression of pulmonary disease in infants with cystic fibrosis.
- Trial name
- Early CF (NCT01973192)
- Where
- 4 sites in United States, Australia
- Volunteers
- 65 people
- Sponsor
- Indiana University
Congenital Bleeding Disorder, Haemophilia A
Observational Study Describing the Usual Clinical Practice Use of NovoSeven® in the Home Treatment of Joint Bleeds in Patients With Haemophilia A or B and Inhibitors
This trial is conducted in Africa and Asia. The aim of this study is to evaluate the efficacy of home treatment of joint bleeds (haemarthrosis) with NovoSeven® (activated recombinant human factor VII) in patients with haemophilia…
- Conditions
- Congenital Bleeding Disorder, Haemophilia A, Haemophilia B
- Trial name
- NCT01234545
- Testing
- activated recombinant human factor VII
- Where
- 5 sites in Algeria, Morocco and 3 more
- Volunteers
- 35 people
- Sponsor
- Novo Nordisk A/S
Hemophilia A
Emotions in the Communication and Relationship Styles of Parents With Hemophilic Children.
Severe hemophilia is a rare, inherited, X-linked disorder. Currently, standard therapy involves ev infusion of drugs from a very young age.
- Trial name
- NCT05754619
- Where
- Italy
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Rett Syndrome
Validating Innovative Biosensors for Rett Autonomic Symptom Tracking
The VIBRANT study aims to validate biosensors to objectively and directly measure symptoms in Rett syndrome and create confidence in the use of these devices in clinical trials.
- Trial name
- VIBRANT (NCT06338267)
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Rett Syndrome Research Trust
Cardiomyopathy, Hypertrophic, Familial
Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease
Genetically inherited heart diseases (familial cardiomyopathies) are conditions affecting the heart passed on to family members through abnormalities in genetic information.
- Trial name
- NCT00001881
- Where
- United States
- Volunteers
- 9,999 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Inflammatory Bowel Disease
Genetic Studies of Inflammatory Bowel Disease
This study will examine the existence of genetic regions that are believed to bring about a risk for inflammatory bowel disease (IBD), with its subtypes of Crohn's disease and ulcerative colitis.
- Trial name
- NCT00340444
- Where
- 5 sites in United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cystic Fibrosis
Improving Outcome Measures For Adult CF ACT Trials
This is a randomised controlled cross-over trial involving adult cystic fibrosis (CF) patients from the Royal Brompton Hospital, London investigating outcome measures used in airway clearance trials.
- Trial name
- NCT02721498
- Testing
- Airway clearance session using the Active Cycle of Breathing Techniques (ACBT), Rest period
- Where
- United Kingdom
- Volunteers
- 68 people
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
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
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
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.
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
Cystic Fibrosis
The Prevalence and Significance of Gastro-oesophageal Reflux in Cystic Fibrosis Before and After Lung Transplantation
Gastro-oesophageal reflux (GOR) has been found to be prevalent in children with cystic fibrosis (CF)and may further worsen lung damage via reflex bronchospasm or pulmonary aspiration.
- Trial name
- NCT00164021
- Testing
- Physiotherapy, exercise, percutaneous gastrostomy feeds, Anti-reflux pharmacotherapy
- Where
- Australia
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Bayside Health
Cystinuria
TCUPS- Tolvaptan Use in Cystinuria and Urolithiasis: A Pilot Study
The goal of this research project is to establish that in short-term use, tolvaptan is a safe and potentially effective new therapy for cystinuria, by conducting a short-term pilot study of the safety and tolerability of this…
- Trial name
- TCUPS (NCT02538016)
- Testing
- Tolvaptan
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Caleb Nelson
FSHD, FSHD1
Phase 2 Open-label Extension Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
A Phase 2 Open-label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of AOC 1020 Administered Intravenously to Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)
- Conditions
- FSHD, FSHD1, FSHD2, FMD
- Trial name
- FORTITUDE-OLE (NCT06547216)
- Testing
- AOC 1020
- Where
- 17 sites in United States, Canada and 1 more
- Volunteers
- 84 people
- Sponsor
- Avidity Biosciences, Inc.
Atopic Dermatitis
Efficacy of Fermented Rice Flour for the Treatment of Atopic Dermatitis
This Study Evaluate the efficacy of the subministration of fermented rice flour (7 g/day) on the clinical course of patients with moderate or severe Atopic Dermatitis, in terms of a reduction in the SCORAD score, during the study…
- Trial name
- NCT03157284
- Testing
- Rice Flour
- Where
- Italy
- Volunteers
- 58 people
- Sponsor
- Heinz Italia SpA
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