Clinical trials: Genetics
Rett Syndrome
Esketamine for the Treatment of Rett Syndrome
The goal of this interventional study is to learn about the efficacy and safety of Esketamine for treating children with Rett syndrome (RTT).
- Trial name
- NCT06199700
- Testing
- Esketamine hydrochloride
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Children's Hospital of Fudan University
Sickle Cell Disease, Cerebral Stroke
Cerebrovascular Reactivity Measurements With High-Density Diffuse Optical Tomography
The purpose of the study protocol is to identify imaging biomarkers for brain tissue under high metabolic stress at risk for permanent injury.
- Trial name
- HDDOT CVR (NCT07776444)
- Testing
- Carbon Dioxide
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Dermatitis, Dermatitis, Atopic
Study to Investigate Efficacy and Safety of PF-04965842 in Subjects Aged 12 Years and Over With Moderate to Severe Atopic Dermatitis With the Option of Rescue Treatment in Flaring Subjects
B7451014 is a Phase 3 study to investigate PF-04965842 in patients aged 12 years and over with a minimum body weight of 40 kg who have moderate to severe atopic dermatitis.
- Conditions
- Dermatitis, Dermatitis, Atopic, Eczema, Skin Diseases
- Trial name
- NCT03627767
- Testing
- PF-04965842 100 mg, PF-04965842 200 mg
- Where
- 235 sites in United States, Argentina and 19 more
- Volunteers
- 1,235 people
- Sponsor
- Pfizer
Epilepsy, Seizures, Infantile
Clinical-genetic Investigations in Children With Early Infantile Epilepsies
The project strives to discover novel genetic defects that cause monogenic epilepsy or that genetically modify a preexisting epileptic phenotype.
- Trial name
- NCT01357707
- Testing
- DNA preparation
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- Markus Schuelke, M.D.
Haemophilia B
An Open Study to Investigate the Safety and Efficacy of Replenine®-VF in Severe Haemophilia B Patients
To compare the first and second recovery assessments on Replenine®-VF and to evaluate recovery of different batches if patients changed batches during the study.
- Trial name
- NCT02231944
- Testing
- Replenine®-VF (High Purity Factor IX)
- Where
- 7 sites in Poland, United Kingdom
- Sponsor
- Bio Products Laboratory
Macular Degeneration, Low Vision
The Effect of Duration Between Sessions on Microperimetric Biofeedback Training in Patients With Maculopathies
Patients who develop macular diseases have several clinical complications,such as central vision loss, the central scotoma of the visual field, the decrease of reading speed and fixation stability.
- Conditions
- Macular Degeneration, Low Vision, Stargardt Disease
- Trial name
- NCT05904444
- Testing
- microperimetric biofeedback training
- Where
- China
- Volunteers
- 29 people
- Sponsor
- Aier Eye Hospital, Guangzhou
Congenital Bleeding Disorder, Haemophilia A
Safety, Tolerability, and Pharmacokinetics Study of Turoctocog Alfa Pegol Injected Under the Skin in Patients With Haemophilia A
The trial is conducted in Asia, Europe and North America. The aim of the study is to evaluate the safety of administration under the skin of turoctocog alfa pegol (SC N8-GP) in patients with severe haemophilia A.
- Trial name
- alleviate 1 (NCT02994407)
- Testing
- turoctocog alfa pegol
- Where
- 19 sites in United States, Austria and 4 more
- Volunteers
- 50 people
- Sponsor
- Novo Nordisk A/S
Sickle Cell Disease
School Readiness Intervention for Preschool Children With Sickle Cell Disease
The study participant is being asked to take part in this clinical trial, a type of research study, because the participant is a young child with sickle cell disease or the caregiver of a child with sickle cell disease.
- Trial name
- NCT06367192
- Testing
- The adapted Kids in Transition to School Intervention, Standard school resources
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- St. Jude Children's Research Hospital
Idiopathic Interstitial Pneumopathy/Pneumopathy Interstitial Diffuse, Paediatric and Adult Patients
RaDiCo PID Cohort (RaDiCo-ILD Cohort in English)
The main objective is to describe the phenotypic features of the paediatric and adult patients with Idiopathic Interstitial Pneumopathy/Pneumopathy Interstitial Diffuse (IIP/PID), at diagnosis and during the follow-up.
- Trial name
- RaDiCo-PID (NCT04238871)
- Where
- 2 sites in France
- Volunteers
- 1,600 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Sickle Cell Disease
Sickle Cell Disease Biofluid Chip Technology (SCD BioChip)
'Sickle-shaped' anemia was first clinically described in the US in 1910, and the mutated heritable sickle hemoglobin molecule was identified in 1949.
- Trial name
- NCT02824471
- Testing
- SCD Group
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Hospitals Cleveland Medical Center
Cystic Fibrosis
Non-contrast Lung Perfusion Mapping Applied for New Insights in Cystic Fibrosis
Cystic fibrosis (CF) results in the thickening of mucus in the lungs and other organs due to dysfunction of a transmembrane conductance protein.
- Trial name
- NCT04467957
- Testing
- Initiation of CFTR Modulator, Hyperpolarized Xenon 129
- Where
- United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
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
Muscular Dystrophies, Muscle Inflammation
Safety and Efficacy of a Flavonoids- and omega3s-based Compound for the Treatment of Muscular Dystrophies
The study aimed to assess the safety and, partially, the efficacy of dietary supplementation of a flavonoids-, DHA- and EPA-based natural supplement in non-ambulant DMD boys and in a cohort of LGMD and FSHD patients to compare…
- Trial name
- PRO1 (NCT03317171)
- Testing
- Flavonoids, DHA, EPA
- Where
- Italy
- Volunteers
- 29 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Duchenne Muscular Dystrophy (DMD)
DMD and Gamified Physiotherapy
Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular disease that limits children's physical function, mobility, and participation in daily life.
- Trial name
- Gamified DMD (NCT07368400)
- Testing
- Gamified Mobile Physiotherapy Exercise Application, Standard Home Exercise Instructions
- Volunteers
- 46 people
- Sponsor
- Başak Çağla Arslan
Cystic Fibrosis
Tobramycin Administered by eFlow Rapid Nebulizer: Pharmacokinetic Study
This study assesses the aerosol delivery characteristics (measured by nebulization time, serum and sputum tobramycin pharmacokinetic parameters) and safety of tobramycin administered for inhalation by PARI eFlow rapid electronic…
- Trial name
- NCT00420836
- Testing
- Tobramycin
- Volunteers
- 20 people
- Sponsor
- Novartis
Child Development
LIFE Child (LIFE Leipzig Research Centre for Civilization Diseases)
The Leipzig Research Centre for Civilization Diseases (LIFE) Child Study is a prospective longitudinal population-based study with a life course approach to health and disease.
- Trial name
- NCT02550236
- Where
- Germany
- Volunteers
- 7,000 people, healthy volunteers welcome
- Sponsor
- University of Leipzig
Fragile X Syndrome
Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome
The objective of this project is to explore the potential of functional near- infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Fragile X Syndrome (FXS) that is still without cure.
- Trial name
- NCT06293027
- Where
- Italy
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Epidermolysis Bullosa Dystrophica
Growth Hormone in EB
Growth is extremely affected in epidermolysis bullosa patients
- Trial name
- NCT05390073
- Testing
- growth hormone level and insulin like growth factor 1
- Volunteers
- 50 people
- Sponsor
- Cairo University
Cystic Fibrosis, Glucose Metabolism Disorders
One Year Glargine Treatment in CFRD Children and Adolescents
Glargine treatment can improve the clinical features in Cystic Fibrosis patients affected by glucose derangements
- Trial name
- NCT00483769
- Testing
- Glargine
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Federico II University
Genetic Disorder, Achondroplasia
Special Survey for Long Term Application
This study is conducted in Japan. The aim of this study is to assess the incidence rate of adverse drug reactions (ADRs) when using somatropin (Norditropin®) for treatment of for achondroplasia without epiphyseal line closure…
- Trial name
- NCT01516229
- Testing
- somatropin
- Where
- 2 sites in Japan
- Volunteers
- 395 people
- Sponsor
- Novo Nordisk A/S
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