Clinical trials: Genetics
Cystic Fibrosis, Muscle Strength
Muscle Strength, Functional Capacity, Respiratory Function and Quality Of Life In Cystic Fibrosis Patients
This study was designed to investigate the relationship between upper extremity muscle strength and endurance, functional capacity, and quality of life child and adolescent with cystic fibrosis
- Conditions
- Cystic Fibrosis, Muscle Strength, Pulmonary Function, Functional Capacity
- Trial name
- NCT04734743
- Testing
- cystic fibrosis
- Where
- Turkey (Türkiye)
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Cagtay Maden
Dermatitis, Atopic
Histamine Pharmacogenetics in Children With Atopic Dermatitis
The primary goal of the study is to investigate the impact of a common genetic polymorphism in a histamine detoxification enzyme that may well have a common role in regulating the expression of atopic dermatitis (AD) and other…
- Trial name
- NCT00277433
- Testing
- Buccal Swab
- Where
- 7 sites in United States
- Volunteers
- 751 people, healthy volunteers welcome
- Sponsor
- Virginia Commonwealth University
Mitochondrial Diseases
EPI-743 for Mitochondrial Respiratory Chain Diseases
This study will evaluate the safety and efficacy of EPI-743 in participants with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care.
- Trial name
- NCT01370447
- Testing
- EPI-743
- Where
- 16 sites in United States
- Sponsor
- PTC Therapeutics
Cystic Fibrosis
ICM to Evaluate the Activation of p.Phe508del-CFTR by Lumacaftor in Combination With Ivacaftor
The academic investigator - initiated trial will evaluate in a postapproval setting whether, and if yes, to what extent and variability, the treatment with lumacaftor in combination with ivacaftor reverses the p.Phe508del CFTR …
- Trial name
- OrkambiFacts (NCT02807415)
- Testing
- Lumacaftor plus Ivacaftor
- Where
- 3 sites in Germany
- Volunteers
- 104 people
- Sponsor
- Hannover Medical School
MRSA, Cystic Fibrosis
AeroVanc in the Treatment of Methicillin-resistant Staphylococcus Aureus Infection in Patients With Cystic Fibrosis
This is a multi-center, randomized phase III study to evaluate the clinical effectiveness of AeroVanc in persistent methicillin-resistant Staphylococcus aureus (MRSA) infection in patients with cystic fibrosis (CF).
- Trial name
- NCT03181932
- Testing
- Vancomycin inhalation powder
- Where
- 71 sites in United States, Canada
- Volunteers
- 188 people
- Sponsor
- Savara Inc.
Hypophosphatasia, Bone Disease
Non-interventional Substudy of ALX-HPP-502 to Assess Natural History of Patients With Juvenile-onset HPP Who Served as Historical Controls in ENB-006-09
The purpose of this study is to characterize the natural history of HPP in patients with Juvenile-onset HPP who served as historical controls in ENB-006-09.
- Trial name
- NCT02235493
- Testing
- Retrospective Case Only
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Duchenne Muscular Dystrophy
Pharmacokinetics and Safety of Givinostat in DMD Patients Ages From at Least 2 Years to Less Then 6 Years Old
This is a Phase 2 Open-label (Core Phase Plus Extension Phase) With 2 Cohorts Study to Assess the Pharmacokinetics and Safety of Givinostat in younger DMD Patients.
- Trial name
- NCT06769633
- Testing
- Givinostat Hydrochloride, Givinostat Hydrochloride - Cohort 2
- Where
- 9 sites in Belgium, Italy and 2 more
- Volunteers
- 18 people
- Sponsor
- Italfarmaco
Sickle Cell Anemia, Beta-thalassemia Major
T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
The purpose of this study is to evaluate what effect, if any, mismatched unrelated volunteer donor and/or haploidentical related donor stem cell transplant may have on severe sickle cell disease and other transfusion dependent…
- Conditions
- Sickle Cell Anemia, Beta-thalassemia Major, Diamond-blackfan Anemia
- Trial name
- NCT03653338
- Testing
- CD3/CD19 depleted leukocytes, CD45RA depleted leukocytes, Hydroxyurea
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Paul Szabolcs
Neurofibromatosis 2, Vestibular Schwannoma
Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors
In this research study the researchers want to learn more about the effects (both good and bad) the study drug selumetinib has on participants with neurofibromatosis type II (NF2) related tumor.
- Conditions
- Neurofibromatosis 2, Vestibular Schwannoma, Meningioma, Ependymoma
- Trial name
- SEL-TH-1601 (NCT03095248)
- Testing
- Selumetinib
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Atopic Dermatitis
Safety Study Evaluating the Adrenal Suppression Potential of Product 0405 in Pediatric Subjects With Atopic Dermatitis
The aim of the trial is to assess Adrenal Suppression potential when pediatric subjects are administered Product 0405 for the treatment of Atopic Dermatitis
- Trial name
- 0405-01-04 (NCT01232543)
- Testing
- Product 0405
- Where
- United States
- Volunteers
- 114 people
- Sponsor
- Fougera Pharmaceuticals Inc.
Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue.
- Conditions
- Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy, Muscular Dystrophy, Myotonic Dystrophy Type 1
- Trial name
- NCT00082108
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Developmental Delay Disorder, Genetic Disease
Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS)
Environment which children live and grown is very important for the all development stages. In Turkey there is no measurement for home environment evaluation so our aim is to investigate the Psychometric Properties of the Turkish…
- Conditions
- Developmental Delay Disorder, Genetic Disease, Metabolic Disease, Congenital Disorders
- Trial name
- NCT04556487
- Testing
- evaluation
- Where
- Turkey (Türkiye)
- Volunteers
- 139 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Neurofibromatosis 1, Neurofibroma
Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1
This study is being conducted to determine if Whole Body MRI (WBMRI) can be used to identify Atypical Neurofibromas (ANF) in Neurofibromatosis Type 1 (NF1) patients with high tumor burden.
- Conditions
- Neurofibromatosis 1, Neurofibroma, Atypical Neurofibroma, Atypical Neurofibromatosis
- Trial name
- NCT03820778
- Testing
- Whole Body MRI
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's National Research Institute
Primary Hyperoxaluria
Primary Hyperoxaluria Mutation Genotyping
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
- Trial name
- NCT00589225
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 902 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Cystic Fibrosis
Safety, Tolerability and Pharmacokinetics of BIIL 284 BS in Adult and Pediatric Cystic Fibrosis (CF) Patients
Safety, tolerability and pharmacokinetics following repeated doses (15-day dosing)
- Trial name
- NCT02269189
- Testing
- BIIL 284 BS, high dose, BIIL 284 BS, low dose
- Volunteers
- 36 people
- Sponsor
- Boehringer Ingelheim
Cystic Fibrosis, Inflammatory Bowel Disease
MD2Me - Texting to Promote Chronic Disease Management
UCSD researchers are conducting a study aimed to develop and evaluate a chronic disease self management web and text message based program on health-related self-efficacy and frequency of adolescent-conducted healthcare…
- Conditions
- Cystic Fibrosis, Inflammatory Bowel Disease, Type 1 Diabetes, Chronic Disease Management
- Trial name
- NCT01253733
- Testing
- MD2ME
- Where
- United States
- Volunteers
- 81 people
- Sponsor
- Huang, Jeannie, M.D.
Congenital Cataract
Genetic Diagnosis in Congenital Cataracts
The prediction of genetic risk in congenital cataract patients has great clinical significance. In this trial, the investigators aim to screen the causative variants from 115 unrelated bilateral congenital cataract patients…
- Trial name
- NCT05782452
- Testing
- Ophthalmic examination, Whole-exome sequencing
- Where
- China
- Volunteers
- 115 people
- Sponsor
- Zhongshan Ophthalmic Center, Sun Yat-sen University
Von Willebrand Diseases
The Lived Experience of People With Von Willebrand Disease
von Willebrand disease (vWD) is reported to be the most common bleeding disorder, with prevalence estimated at 1% of the general population.
- Trial name
- VWD360 (NCT06064643)
- Testing
- Online Survey, Qualitative Interview, Bleed Diary
- Where
- United Kingdom
- Volunteers
- 611 people
- Sponsor
- Haemnet
Healthy, Tone Deafness
Genetic Studies of Tone Deafness
This study will examine the hereditary basis of tone deafness by identifying regions of the human genome linked to this condition.
- Trial name
- NCT00006076
- Where
- United States
- Volunteers
- 968 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Hemophilia A
Satisfaction Regarding the Dispensing of Emicizumab (HEMLIBRA®) for Patients With Haemophilia A in France
Haemophilia A (HA) is a rare constitutional haemorrhagic disease whose drug management is based on the use of chronic lifelong replacement therapy.
- Trial name
- PASODOBLEDEMI2 (NCT05450640)
- Testing
- satisfaction survey
- Where
- France
- Volunteers
- 176 people
- Sponsor
- Hospices Civils de Lyon
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