Clinical trials: Genetic Disease
Inherited Mitochondrial Disease
A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical…
- Trial name
- NCT05218655
- Testing
- Vatiquinone
- Where
- 26 sites in United States, France and 5 more
- Volunteers
- 101 people
- Sponsor
- PTC Therapeutics
Cystic Fibrosis
Early Signs of Efficacy Study With Riociguat in Adult Homozygous Delta F508 Cystic Fibrosis Patients
Assessment of the safety, tolerability and early signs of efficacy of three times a day orally administered BAY63-2521 in adult delta F508 homozygous Cystic Fibrosis patients not on treatment with Orkambi
- Trial name
- NCT02170025
- Testing
- Riociguat (Adempas, BAY63-2521)
- Where
- 10 sites in United States, Belgium and 5 more
- Volunteers
- 21 people
- Sponsor
- Bayer
Haemophilia A, Haemophilia B
A Study of the Impact of Hemophilia and Its Treatment on Brain Development, Thinking and Behaviour in Children With Hemophilia
The Hemophilia Growth and Development Study (HGDS) nearly 25 years ago showed haemophilia and HIV impacted brain development, thinking, and behaviour in children and adolescents.
- Trial name
- eTHINK (NCT03660774)
- Testing
- No treatment given
- Where
- 22 sites in United States
- Volunteers
- 563 people
- Sponsor
- Novo Nordisk A/S
Iron, Abnormal Blood Level, Other Abnormal Blood Chemistry
Fresh Versus Old Red Blood Cells for Transfusion
Packed red blood cell units destined for transfusion can be stored for up to 42 days prior to transfusion based on Food and Drug Administration (FDA) guidelines.
- Trial name
- NCT01319552
- Testing
- Fresh transfusion, Old transfusion
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Columbia University
Cystic Fibrosis
Aztreonam Lysine for Pseudomonas Infection Eradication Study
This is an open-label, multi-center study in pediatric patients age 3 months to less than 18 years with cystic fibrosis (CF) and newly detected Pseudomonas aeruginosa (PA) pulmonary colonization/infection.
- Trial name
- ALPINE (NCT01375049)
- Testing
- Aztreonam for Inhalation Solution (AZLI)
- Where
- 58 sites in United States, Austria and 7 more
- Volunteers
- 105 people
- Sponsor
- Gilead Sciences
Atopic Dermatitis, Alopecia Areata
Treatment of Atopic Dermatitis and Alopecia Areata With Abrocitinib in Individuals With Down Syndrome
This is a single-center, open-label, basket phase 2b trial that will enroll Down Syndrome (DS) participants with at least one inflammatory skin condition (Atopic Dermatitis (AD) and/or Alopecia Areata (AA)).
- Trial name
- NCT07242638
- Testing
- Abrocitinib
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Huntington's Disease
Follow-up Measurement of Brain PDE10A Enzyme Levels in Huntington´s Disease Gene Expansion Carriers
The aim of this study is to measure longitudinally the availability of the PDE10A enzyme in HDGECs using the radioligand [18F]MNI-659.
- Trial name
- LONGPDE10 (NCT02956148)
- Testing
- Radioligand [18F]MNI-659
- Where
- 7 sites in Denmark, Netherlands and 2 more
- Volunteers
- 45 people
- Sponsor
- CHDI Foundation, Inc.
Genetic Disease Clinical Presentation in Patients Attending Genetics Outpatient Clinic of Assiut University Children Hospital
Clinical Presentation of Genetic Disorders in Patients Attending Genetic Outpatient Clinic of Assiut University Children Hospital
Genetic Epidemiology : is quickly expanding research field concerned with considerate the heritable aspect of disease risk, individual propensity to disease and eventually with contributing to a complete molecular understanding…
- Trial name
- NCT05888155
- Volunteers
- 100 people
- Sponsor
- Assiut University
Laxity; Skin, Skin Hyperpigmentation
Comparison Of Aesthetic Techniques For Rejuvenation Of Genital Region: A Randomized Clinical Trial
The microneedle is a minimally invasive technique, consists of the application of a roller surrounded by small and thin needles that pierce the skin and generate a mechanical stimulus with no ablative effect on the skin.
- Conditions
- Laxity; Skin, Skin Hyperpigmentation, Needlestick Puncture
- Trial name
- NCT04998578
- Testing
- Comparison of aesthetic techniques
- Where
- 2 sites in Brazil
- Volunteers
- 112 people
- Sponsor
- Centro de Atenção ao Assoalho Pélvico
Hemophilia A
Study to Establish Bioequivalence of ReFacto AF (BDDrFVIII) With Advate (FLrFVIII) in Hemophilia A
The study will consist of two parts: a safety and efficacy period in which all subjects will participate and a pharmacokinetic analysis period, in which 30 eligible subjects will participate to compare ReFacto AF and Advate…
- Trial name
- NCT00141843
- Testing
- ReFacto AF, B-Domain deleted Recombinant Factor VIII, BDDrFVIII
- Where
- 41 sites in United States, Australia and 11 more
- Volunteers
- 100 people
- Sponsor
- Wyeth is now a wholly owned subsidiary of Pfizer
Neurofibromatosis 2
An Implant for Hearing Loss Due to Removal of Neurofibromatosis 2 Tumors
This is a study to gather some information on the safety and efficacy of the penetrating auditory brainstem implant (PABI) in patients with neurofibromatosis type 2.
- Trial name
- NCT00030043
- Testing
- Penetrating auditory brainstem implant
- Where
- 3 sites in United States
- Volunteers
- 10 people
- Sponsor
- FDA Office of Orphan Products Development
Chronic Obstructive Pulmonary Disease, Heart Failure
PATient Navigator to rEduce Readmissions
Staying out of the hospital is valued by patients and their caregivers. Their interests converge with those of hospitals now that high 30-day readmission rates for some conditions place hospitals at risk for financial penalties…
- Conditions
- Chronic Obstructive Pulmonary Disease, Heart Failure, Sickle Cell Disease, Myocardial Infarction
- Trial name
- PArTNER (NCT02114515)
- Testing
- Hospital usual care, Navigator intervention, Peer-led telephone support line
- Where
- United States
- Volunteers
- 1,029 people
- Sponsor
- University of Illinois at Chicago
Cystic Fibrosis (CF), Cardiorespiratory Fitness
Assessment of Static and Dynamic Inspiratory Muscle Strength and Cardiorespiratory Fitness in Adults With Cystic Fibrosis
This study aims to examine and compare static and dynamic inspiratory muscle strength and cardiorespiratory fitness in adults with cystic fibrosis and their healthy peers.
- Conditions
- Cystic Fibrosis (CF), Cardiorespiratory Fitness, Inspiratory Muscle Strength
- Trial name
- NCT07895108
- Where
- Turkey (Türkiye)
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Systemic Sclerosis, Scleroderma
Scleroderma Registry
Scleroderma is likely caused by a combination of factors, including an external trigger (infection or other exposure) and a genetic predisposition.
- Trial name
- Registry (NCT00074568)
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Constipation, Childhood Acute Lymphoblastic Leukemia
Comparison of Gastrointestinal Motility in Healthy Children and Children With Constipation
To gain a better understanding of the underlying dysmotility in constipation in children, we will use a novel minimal invasive method called 3D Transit.
- Conditions
- Constipation, Childhood Acute Lymphoblastic Leukemia, Neurofibromatosis 1, Chronic Constipation With Overflow
- Trial name
- NCT03981510
- Testing
- 3D-Transit
- Where
- Denmark
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Cystic Fibrosis, Dysbiosis
Vitamin D and Prebiotics for Intestinal Health in Cystic Fibrosis
The study will assess if administration of high-dose vitamin D and a commonly used prebiotic (inulin) is effective to reduce gastrointestinal dysbiosis and to improve critical intestinal functions in Cystic Fibrosis with the…
- Trial name
- NCT04118010
- Testing
- Vitamin D3, Inulin
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Emory University
Haemophilia
Educational Physiotherapy in Haemophilia
Although arthropathy is a serious problem in patients with hemophilia due to the associated morbidity and incapacity, to the best of the investigators knowledge, no studies have looked at the effect of educational physiotherapy…
- Trial name
- NCT02825706
- Testing
- Educational physiotherapy group
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Real Fundación Victoria Eugenia
Tourette's Syndrome, Tourette Syndrome
Subthalamic Stimulation in Tourette's Syndrome
The main objective of this project is to evaluate the efficacy of subthalamic nucleus deep brain stimulation (STN DBS) in treating motor and phonic tics in medically refractory Tourette's syndrome (TS).
- Conditions
- Tourette's Syndrome, Tourette Syndrome, Gilles de la Tourette Syndrome, Tourette Disorder
- Trial name
- STN-DBSinTS (NCT02619084)
- Testing
- STN DBS
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Cystic Fibrosis
Host and Bacterial Mechanisms During Cystic Fibrosis Pulmonary Exacerbations
Cystic fibrosis pulmonary exacerbations (CF PEx) vary greatly in their severity, their pathogens, and their treatment responses.
- Trial name
- NCT04354038
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- National Jewish Health
Sickle Cell Disease
Optimizing the Management of Sickle Cell Patients on Hydroxyurea: The Value of Therapeutic Pharmacological Monitoring
Brief Summary: * A short description of the clinical study, including a brief statement of the clinical study's hypothesis, written in language intended for the lay public. Limit: 5000 characters.
- Trial name
- OPTIMDREP (NCT06464458)
- Testing
- management on hydroxyurea by therapeutic pharmacological monitoring
- Where
- France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Strasbourg, France