Clinical trials: Genetic Syndrome
Duchenne Muscular Dystrophy
A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Participants With Duchenne Muscular Dystrophy (DMD)
The study will evaluate the safety and efficacy of gene transfer therapy in boys with DMD. It is a randomized, double-blind, placebo-controlled study.
- Trial name
- EMBARK (NCT05096221)
- Testing
- delandistrogene moxeparvovec
- Where
- 42 sites in United States, Belgium and 7 more
- Volunteers
- 126 people
- Sponsor
- Sarepta Therapeutics, Inc.
Hemophilia A
Russian Kogenate Pediatric Study
A prospective study to evaluate the effect of rFVIII-FS in different prophylactic regimens on bleeding events frequency and development of arthropathy in Previously Treated and Minimally treated Hemophilia A pediatric population.
- Trial name
- NCT00632814
- Testing
- rFVIII-FS (Kogenate FS, BAY14-2222) 70 IU/kg, dosing once per week, rFVIII-FS (Kogenate FS, BAY14-2222), 70 IU/kg twice per week (30 IU/kg + 40 IU/kg), rFVIII-FS (Kogenate FS, BAY14-2222) 75 IU/kg, dosing three times per week (3 x 25 IU/kg)
- Where
- 4 sites in Russia
- Volunteers
- 32 people
- Sponsor
- Bayer
Down Syndrome
Effects of Powerball in Children With Down Syndrome
This randomised clinical trial investigates the effects of powerball using static and dynamic surface on upper limb Endurance and coordination in children with Down Syndrome.
- Trial name
- NCT07244133
- Testing
- Power ball with static surface, Powerball with dynamic surface
- Where
- Pakistan
- Volunteers
- 28 people
- Sponsor
- Riphah International University
Attention, Visual Perceptual Weakness
Result of tDCS in ASD Children With Comorbidities Like PANDAS, Rare Genetic Diseases or Autoimmune Disorders
Results of the application of 100 sessions of tDCS for 12 months in children between 6 and 11 years old with autism spectrum disorder with rare diseases, genetic problems or PANDAS
- Conditions
- Attention, Visual Perceptual Weakness, Social Behavior, Fluency Disorder
- Trial name
- tDCS&ASD (NCT06368726)
- Testing
- tDCS or Transcranial Direct Current Stimulation, Risperidone
- Where
- United States
- Volunteers
- 180 people
- Sponsor
- Spanish Foundation for Neurometrics Development
Neuroblastoma, Medulloblastoma
Molecular-Guided Therapy for Childhood Cancer
The purpose of this study is to test the feasibility (ability to be done) of experimental technologies to determine a tumor's molecular makeup.
- Conditions
- Neuroblastoma, Medulloblastoma, Glioma, Ependymoma
- Trial name
- NCT02162732
- Testing
- Guided Therapy
- Where
- 19 sites in United States, Lebanon
- Volunteers
- 186 people
- Sponsor
- Giselle Sholler
Hemophilia B, Allergic Reactions
Study to Describe the Allergic Reactions to Factor IX in Patients With Hemophilia B
Retrospective, multicenter study in patients with hemophilia B. This study will be placed at 20 to 50 hemophilia treatment centers in North America and the EU, and is designed to estimate the frequency of Class II and III…
- Trial name
- NCT00195221
- Where
- 38 sites in United States, Austria and 7 more
- Volunteers
- 166 people
- Sponsor
- Wyeth is now a wholly owned subsidiary of Pfizer
Marfan Syndrome
The Oxford Marfan Trial
The primary objective of the trial is to estimate the effects of allocation to irbesartan, or doxycycline, or a combination of both irbesartan and doxycycline, compared with placebo, on measures of elastic function of the aorta…
- Trial name
- NCT01949233
- Testing
- Irbesartan 150-300mg capsules daily for 6 months, Doxycycline 100-200mg capsules daily for 6 months
- Where
- 2 sites in United Kingdom
- Volunteers
- 56 people
- Sponsor
- University of Oxford
Beta Thalassemia Major
Effect of Spirulina on Serum Hyaluronic Acid in Beta Thalassemic Children With Hepatitis C
Thalassemics can develop liver fibrosis because of iron overload and hepatitis C infection. The latter is the main risk factor for liver fibrosis in transfusion dependent thalassemics.
- Trial name
- NCT02744547
- Testing
- Spirulina
- Where
- Egypt
- Volunteers
- 60 people
- Sponsor
- Tanta University
Duchenne Muscular Dystrophy, Performance
Lower Limb Flexibility in Duchenne Muscular Dystrophy: Effects on Functional Performance
The investigator investigated the effect of lower limb flexibility on functional performance of children with Duchenne Muscular Dystrophy.
- Conditions
- Duchenne Muscular Dystrophy, Performance, Flexibility
- Trial name
- NCT03534349
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people
- Sponsor
- Hacettepe University
Cystic Fibrosis
A Phase 3 Study of VX-659 Combination Therapy in Subjects With Cystic Fibrosis Heterozygous for the F508del Mutation and a Minimal Function Mutation (F/MF)
This study will evaluate the efficacy of VX-659 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are heterozygous for F508del and a minimal function mutation (F/MF…
- Trial name
- NCT03447249
- Testing
- VX-659/TEZ/IVA, IVA
- Where
- 101 sites in United States, Australia and 9 more
- Volunteers
- 385 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Atopic Dermatitis
Combination Therapy for Atopic Dermatitis
Atopic dermatitis is a chronic relapsing disease with acute flares. The standard therapy is to treat acute flares using topical medications.
- Trial name
- NCT00119158
- Testing
- Combination of pimecrolimus and fluticasone, pimecrolimus
- Where
- 3 sites in United States
- Volunteers
- 90 people
- Sponsor
- Children's Hospital of Philadelphia
Hemoglobinopathies
Prevalence and Hematological Characteristics of Hemoglobinopathies
This study aimed to determine the prevalence and hematological characteristics of hemoglobinopathies in Mardan and surrounding districts of Khyber Pakhtunkhwa (KPK), Pakistan.
- Trial name
- NCT07180836
- Testing
- No Intervention (Observational Study)
- Where
- Pakistan
- Volunteers
- 839 people
- Sponsor
- Bacha Khan Medical College
Type II Gaucher Disease
An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease
This exploratory trial is to prove the tolerability and safety of VGN-R08b to treat infants with type II Gaucher disease.
- Trial name
- NCT06272149
- Testing
- VGN-R08b
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Primary Ciliary Dyskinesia, Kartagener Syndrome
Genetics of Primary Ciliary Dyskinesia
This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD).
- Trial name
- NCT02389049
- Where
- 8 sites in United States, Canada
- Volunteers
- 320 people
- Sponsor
- University of North Carolina, Chapel Hill
Post-COVID-19 Condition, Ulcerative Colitis
Emerging Indications for Hyperbaric Oxygen Treatment
This study will evaluate the effectiveness of hyperbaric oxygen therapy (HBOT) on treating emerging indications (i.e., conditions that have shown to potentially benefit from HBOT) using the Multicenter Registry for Hyperbaric…
- Conditions
- Post-COVID-19 Condition, Ulcerative Colitis, Crohn Disease, Calciphylaxis
- Trial name
- NCT07240649
- Testing
- Hyperbaric oxygen treatment (HBOT), 100% Oxygen
- Volunteers
- 100 people
- Sponsor
- Jay C. Buckey Jr.
Congenital Bleeding Disorder, Haemophilia A
A Multinational, Open-Label, Non-Controlled Trial on Safety, Efficacy and Pharmacokinetics of NNC 0129-0000-1003 in Previously Treated Paediatric Patients With Severe Haemophilia A
This trial is conducted globally. The aim of the trial is to investigate safety, efficacy and pharmacokinetics (the exposure of the trial drug in the body) of NNC 0129-0000-1003 (N8-GP) in children with severe haemophilia A who…
- Trial name
- pathfinder™5 (NCT01731600)
- Testing
- turoctocog alfa pegol
- Where
- 51 sites in United States, Brazil and 14 more
- Volunteers
- 68 people
- Sponsor
- Novo Nordisk A/S
Muscular Dystrophy, Duchenne
Spironolactone Versus Prednisolone in DMD
This is a randomized, open-label, pilot clinical trial of spironolactone suspension versus oral prednisolone for use in Duchenne muscular dystrophy.
- Trial name
- NCT03777319
- Testing
- Spironolactone, Prednisolone
- Where
- 4 sites in United States
- Volunteers
- 2 people
- Sponsor
- Kevin Flanigan
Down Syndrome
Evaluation of a Simplified Method for Diagnosis of Sleep Apnea in Children and Adults With Down Syndrome
People with Down syndrome are at increased risk of sleep apnea, not only from obstruction of the upper airway, but also of central origin.
- Trial name
- SAOS/T21 (NCT00951730)
- Testing
- Polysomnography
- Where
- 3 sites in France
- Volunteers
- 97 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Sickle Cell Disease
Sickle-cell Disease Registry of the GPOH
Sickle cell disease is one of the most common hereditary diseases. Most severe complications can be avoided if the disease is detected early and treated appropriately.
- Trial name
- SichReg (NCT03327428)
- Where
- Germany
- Volunteers
- 1,000 people
- Sponsor
- University Hospital Heidelberg
Atopic Dermatitis
CorEvitas International Adolescent Atopic Dermatitis (AD) Drug Safety and Effectiveness Registry
Prospective observational registry for an adolescent cohort with AD under the care of a dermatology provider. Approximately 1500 subjects and 75 clinical sites in North America and select European countries will be recruited to…
- Trial name
- NCT06238765
- Where
- United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- CorEvitas
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