Clinical trials: Genetics
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
Cystic Fibrosis
A Phase 3 Study of VX-445 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-445 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
- NCT03525444
- Testing
- VX-445/TEZ/IVA, IVA
- Where
- 115 sites in United States, Australia and 11 more
- Volunteers
- 405 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
GM1 Gangliosidosis
Interviews and Video Capture in Patients With GM1 Gangliosidosis
GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures.
- Trial name
- NCT04310163
- Testing
- Natural history
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- LYSOGENE
Cystic Fibrosis
Coping Compliance and Adjustment in Adolescents With Cystic Fibrosis
In this research, we will use established surveys to look at the relationship between various styles of coping with a disease, religious coping styles, treatment compliance, locus of control, broad measures of mental health and…
- Trial name
- NCT00577252
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Akron Children's Hospital
Beta-Thalassemia
Thrombophilia In Beta Thalassemia
β-thalassemia disease is one of the most common congenital hemolytic anemia commonly found in the malarial belt areas including the Mediterranean, the Middle East, Africa, Southeast Asian countries, and China.
- Trial name
- NCT04219449
- Testing
- PT, Protein C, Platelet aggregation by ADP and arachidonic acid
- Volunteers
- 100 people
- Sponsor
- Assiut University
Neutropenia, Sickle Cell Anemia
Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders
OBJECTIVES: I. Determine the efficacy of bone marrow transplantation using matched related donors in patients with nonmalignant hematologic disorders. II.
- Conditions
- Neutropenia, Sickle Cell Anemia, Thalassemia Major, Red-Cell Aplasia, Pure
- Trial name
- NCT00005893
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Sponsor
- Fairview University Medical Center
GM2 Gangliosidosis, Niemann-Pick Type C Disease
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
This open-label study aims to gather long-term safety, tolerability, PK, biomarker, and clinical efficacy data relating to daily administration of Nizubaglustat in participants previously enrolled in the Phase 2 RAINBOW study…
- Trial name
- PRISMA (NCT07399704)
- Testing
- AZ-3102
- Where
- 3 sites in Brazil
- Volunteers
- 21 people
- Sponsor
- Azafaros B.V.
Crohn Disease
Personalising Anti-TNF Therapy in Crohns Disease (PANTS)
To develop a cost-effective, individualised anti-TNF treatment strategy for patients with Crohn's disease which maximizes benefit and minimises harm.
- Trial name
- PANTS (NCT03088449)
- Where
- United Kingdom
- Volunteers
- 1,750 people
- Sponsor
- Royal Devon and Exeter NHS Foundation Trust
Hemophilia A
An Observational Study to Learn More About How Well Damoctocog Alfa Pegol Works in Previously Treated Children With Hemophilia A
This is an observational study of children with mild, moderate, or severe hemophilia A who are receiving damoctocog alfa pegol, and are between 7 to <12 years of age at the time of enrolment.
- Trial name
- HEM-POWR Kids (NCT07088458)
- Testing
- Damoctocog alfa pegol (Jivi, Bay94-9027)
- Where
- 12 sites in United States, Brazil and 9 more
- Volunteers
- 40 people
- Sponsor
- Bayer
Prader-Willi Syndrome, Sarcopenia
Ultrasound to Assess Sarcopenia in Prader Willi Syndrome
The aim of the study is to examine the clinical applicability of ultrasound as a diagnostic tool for sarcopenia in individuals with PWS by investigating the association between ultrasound-derived measurements, DXA-derived…
- Conditions
- Prader-Willi Syndrome, Sarcopenia, Metabolic Syndrome
- Trial name
- PWS (NCT06448871)
- Testing
- Ultrasound assessment of the right lower extremity muscles, Dual-energy X-ray absorptiometry (DXA) scan
- Where
- Taiwan
- Volunteers
- 49 people
- Sponsor
- Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation
Child Language
Genetic Biomarkers of Child Language Development in Taiwan: an Identification and Validation Study
A study of the relation between genetic biomarkers and child language development in Taiwan.
- Trial name
- NCT05504564
- Testing
- The experiment does not required any intervention
- Where
- Taiwan
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Chang Gung Memorial Hospital
Beta-thalassemia, Myelodysplastic Syndromes
Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias
The purpose of this study is to determine the effects of the oral iron chelator Deferasirox on liver iron content after one year of treatment in patients with iron overload from repeated blood transfusions.
- Conditions
- Beta-thalassemia, Myelodysplastic Syndromes, Fanconi Syndrome, Anemia, Diamond-Blackfan
- Trial name
- NCT00061763
- Testing
- Deferasirox
- Where
- 6 sites in United States
- Volunteers
- 175 people
- Sponsor
- Novartis Pharmaceuticals
Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH)
Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
Congenital portosystemic shunt (CPSS) are rare vascular malformations causing blood from the intestines to bypass the liver and directly flow into body's general circulation.
- Conditions
- Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH), Congenital Portosystemic Shunt
- Trial name
- Gen-PoPH-CPSS (NCT07314814)
- Testing
- targeted gene panels analysis, whole genome analysis
- Where
- Switzerland
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Prof. Valérie Mc Lin
Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm
Testing the Combination of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) in Children, Adolescent, and Young Adult Patients With Relapsed/Refractory Cancers That Have an Increased Number of Genetic Changes, The 3CI Study
This phase Ib trial investigates the side effects of the combination of nivolumab and ipilimumab, and to see how well they work in treating patients with cancers that have come back (relapsed) or does not respond to treatment…
- Conditions
- Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm, Lynch Syndrome, Recurrent Lymphoma
- Trial name
- NCT04500548
- Testing
- Biospecimen Collection, Ipilimumab, Nivolumab
- Where
- 9 sites in United States, Canada
- Sponsor
- National Cancer Institute (NCI)
Alzheimer Disease
Study of N-homocysteinylation of Key Proteins in Alzheimer's Disease (HO-MA)
Alzheimer's disease (AD) is the leading cause of dementia in France. It is a multifactorial pathology, combining genetic and environmental risk factors.
- Trial name
- HO-MA (NCT06168955)
- Testing
- skin biopsy
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Central Hospital, Nancy, France
Hemophilia, Arthropathy of Knee
Evaluation of Static Postural Balance in Children With Hemophilia and Its Relationship With Joint Health
Hemophilia is a rare hematological disorder characterized by a partial or complete deficiency of clotting factor VIII or IX.Bleeding disorders mainly affect the musculoskeletal system.
- Conditions
- Hemophilia, Arthropathy of Knee, Arthropathy of Ankle or Foot
- Trial name
- NCT04406519
- Where
- Turkey (Türkiye)
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Necmettin Erbakan University
Prostatitis, Cystitis, Interstitial
Linkage Analysis in Interstitial Cystitis
Urologic pelvic pain syndrome (UCPPS), variably termed painful bladder syndrome/interstitial cystitis (PBS/IC) in females and chronic prostatitis/chronic pelvic pain syndrome in men (CP/CPPS), is a chronic, debilitating clinical…
- Conditions
- Prostatitis, Cystitis, Interstitial, Urinary Bladder, Overactive, Chronic Pelvic Pain Syndrome
- Trial name
- IC (NCT00675298)
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center