Clinical trials: Genetic Diseases
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
Huntington Disease
Optimizing Parameters of Low-Intensity Focused Ultrasound for Pallidal Modulation in Huntington's Disease
The purpose of this research study is to determine the optimal pulse repetition frequency of low-intensity focused ultrasound that is safe and effective in improving motor symptoms in patients with Huntington's disease.
- Trial name
- NCT07513844
- Testing
- Low-Intensity Focused Ultrasound Stimulation（LIFU）
- Where
- China
- Volunteers
- 24 people
- Sponsor
- First Affiliated Hospital of Fujian Medical 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
Aneuploidy, Chromosome Abnormality
Clinical Value of Mosaicism Diagnosis on the Trophectoderm Biopsies
Mosaicism within an embryo is defined as the presence of two or more cell populations with different genotypes. Blastocysts classified as mosaic by Preimplamtation Genetic Testing for Aneuploidy (PGT-A) have been reported to…
- Trial name
- NS-MOSAICISM (NCT03673592)
- Testing
- PGT-A
- Where
- 3 sites in Italy
- Volunteers
- 783 people
- Sponsor
- Igenomix
Thyroid Eye Disease
Treatment of Graves' Orbitopathy to Reduce Proptosis With Teprotumumab Infusions in an Open-Label Clinical Extension Study
The overall objective is to evaluate the safety and efficacy of teprotumumab in the treatment of thyroid eye disease (TED) in participants who participated in the lead-in study HZNP-TEP-301 (NCT03298867; OPTIC) and who were…
- Trial name
- OPTIC-X (NCT03461211)
- Testing
- Teprotumumab
- Where
- 13 sites in United States, Germany and 1 more
- Volunteers
- 51 people
- Sponsor
- Amgen
Dilated Cardiomyopathy
Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy
A randomised, double-blind, placebo-controlled trial to evaluate the role of intracoronary injection of progenitor cells compared to placebo injection in patients with Dilated Cardiomyopathy who have been pre-treated with G-CSF…
- Trial name
- REGEN-DCM (NCT01302171)
- Testing
- granulocyte colony stimulating factor (GCSF), bone marrow mononuclear cells
- Where
- United Kingdom
- Volunteers
- 60 people
- Sponsor
- Barts & The London NHS Trust
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
Crohn Disease
Study to Evaluate the Efficacy and Safety of PF-06480605 in Adult Participants With Moderate to Severe Crohn's Disease
This Phase 2a, multicenter, randomized, double-blind, placebo-controlled study examines subcutaneous dose of PF-06480605 150 mg administered every 4 weeks in participants with moderate to severe active Crohn's Disease to…
- Trial name
- NCT05471492
- Testing
- Investigational Product
- Sponsor
- Telavant, Inc.
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
Pompe Disease
First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
This is an international, multi-center, open-label study designed to evaluate if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.
- Trial name
- NCT02675465
- Testing
- ATB200, AT2221
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 29 people
- Sponsor
- Amicus Therapeutics
Microsatellite Stable (MSS) Colorectal Adenocarcinomas, Colorectal Adenocarcinoma
Study of Nivolumab and Relatlimab in Patients With Microsatellite Stable (MSS) Advanced Colorectal Cancer
The purpose of this study is to evaluate the safety and clinical activity of nivolumab and relatlimab in patients with metastatic or locally advanced microsatellite stable (MSS) colorectal cancer.
- Trial name
- NCT03642067
- Testing
- Nivolumab, Relatlimab
- Where
- United States
- Volunteers
- 59 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
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
Hematologic Diseases, Anaemia, Sickle Cell
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of Oral GSK4172239D Compared With Placebo in Sickle Cell Disease Participants Aged 18 to 50 Years
This will be a first time in human (FTIH) study in sickle cell diseases (SCD) participants. The FTIH study is planned to evaluate the safety, tolerability, and pharmacokinetics of GSK4172239D.
- Trial name
- NCT05660265
- Testing
- GSK4172239D
- Where
- 6 sites in United States
- Volunteers
- 11 people
- Sponsor
- GlaxoSmithKline
Cystic Fibrosis
Study of N91115 in Patients With Cystic Fibrosis Homozygous F508del-CFTR Mutation
This Phase 1b study in F508del-CFTR homozygous CF patients is being conducted to assess the safety of N91115 as the sole cystic fibrosis transmembrane conductance regulator (CFTR) modulator at doses near the expected therapeutic…
- Trial name
- SNO4 (NCT02275936)
- Testing
- N91115
- Where
- 19 sites in United States
- Volunteers
- 51 people
- Sponsor
- Nivalis Therapeutics, Inc.
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