Clinical trials: Genetics Syndrome
Primary Immune Deficiency Disorder, Hematopoietic Stem Cell Transplantation
TCR Alpha/Beta Depletion for HSCT From Haploidentical and Unrelated Donors in the Treatment of PID
Treatment Study to assess of safety and efficiency of T cells receptor (TCR) alfa beta depleted graft for hematopoietic stem cell transplantation (HSCT) from haploidentical and unrelated donors in patients with primary…
- Trial name
- NCT02327351
- Testing
- Biological: TCR alfa beta T cell depletion
- Where
- Russia
- Volunteers
- 98 people
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Hemophilia A
Long-term Safety and Efficacy of Efanesoctocog Alfa (BIVV001) in Previously Treated Patients With Hemophilia A
Primary Objective: To evaluate the long-term safety of BIVV001 in previously treated subjects with hemophilia A Secondary Objectives: To evaluate the efficacy of BIVV001 as a prophylaxis treatment.
- Trial name
- XTEND-ed (NCT04644575)
- Testing
- efanesoctocog alfa (BIVV001)
- Where
- 85 sites in United States, Argentina and 21 more
- Volunteers
- 261 people
- Sponsor
- Bioverativ, a Sanofi company
Low Grade Glioma, Neurofibromatosis Type 1
A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma
This phase III trial studies if selumetinib works just as well as the standard treatment with carboplatin/vincristine (CV) for subjects with NF1-associated low grade glioma (LGG), and to see if selumetinib is better than CV in…
- Conditions
- Low Grade Glioma, Neurofibromatosis Type 1, Visual Pathway Glioma
- Trial name
- NCT03871257
- Testing
- Carboplatin, Magnetic Resonance Imaging, Quality-of-Life Assessment
- Where
- 132 sites in United States, Canada and 1 more
- Volunteers
- 165 people
- Sponsor
- National Cancer Institute (NCI)
Marfan Syndrome
Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome
Marfan syndrome is an inherited connective tissue disorder with morbidity and mortality from aortic dilation and dissection. The degree of aortic dilation and response to beta-blockade (standard of care) vary in adults with…
- Trial name
- NCT00723801
- Testing
- Atenolol, Losartan
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Brigham and Women's Hospital
DCM - Dilated Cardiomyopathy
Observational Study for Patients With Dilated Cardiomyopathy
Observational study on patients with dilated cardiomyopathy aims to investigate the correlation between cardiac fibrosis, as indicated by cardiac magnetic resonance, and the prognosis of patients with dilated cardiomyopathy, and…
- Trial name
- NCT04837612
- Testing
- No intervention nor exposure
- Where
- China
- Volunteers
- 500 people
- Sponsor
- Guangdong Provincial People's Hospital
Osteoporosis, Osteopenia
Dried Plums Prevent Inflammation And Improve Bone Health in Osteopenic Men
The goals of this study are 1) to investigate the extent to which dried plum improves bone health by measuring bone density (a measure of bone strength) of whole body, hip, and forearm, indicators of bone formation and bone…
- Trial name
- NCT03408119
- Testing
- Dried Plum, 800 IU vitamin D and 450mg elemental calcium
- Where
- United States
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Florida State University
Vaso-occlusive Crisis, Sickle Cell Disease
Different Treatment Modalities in the Management of the Painful Crisis in Pediatric Sickle- Cell Anemia
The aim of the present study is comparing the effectiveness of different treatment regimens for investigating the therapeutic potential for each one in management of Vaso-occlusive pain in pediatric sickle cell disease.
- Conditions
- Vaso-occlusive Crisis, Sickle Cell Disease, Sickle Cell Anemia in Children
- Trial name
- NCT04301336
- Testing
- Omega 3, Vit D, Zinc sulfate
- Where
- 4 sites in Egypt, Saudi Arabia
- Volunteers
- 350 people
- Sponsor
- Beni-Suef University
Myotonic Dystrophy 1
Study of ATX-01 in Participants With DM1
The goal of this clinical trial is to test ATX-01 in participants with myotonic dystrophy type 1 (DM1). The main question it aims to answer is if ATX-01 is safe and well tolerated.
- Trial name
- ArthemiR (NCT06300307)
- Testing
- ATX-01
- Where
- 12 sites in United States, Canada and 5 more
- Volunteers
- 56 people
- Sponsor
- ARTHEx Biotech S.L.
Sickle Cell Disease
Severe Acute Respiratory Syndrome CoV 2 COVID-19 Survey and Vaccination Coverage in the Sickle Cell Population in Ile-De-France
The objective of this study is to determine the seroprevalence of severe acute respiratory syndrome-CoV-2 in unvaccinated sickle cell patients living in an area with high viral circulation and at risk of high viral transmission…
- Trial name
- COVIDO-DREP (NCT05153044)
- Testing
- severe acute respiratory syndrome CoV-2 serology
- Volunteers
- 880 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
Cadasil, Blood Brain Barrier Defect
MRI Study of Blood-brain Barrier Function in CADASIL
Diffusion prepared pseudo-continuous ASL (DP-pCASL) is a newly proposed MRI method to noninvasively measure the function of blood-brain barrier (BBB).
- Trial name
- NCT05902039
- Testing
- MRI
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Peking University First Hospital
X-linked Hypophosphatemia
Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH)
The objectives of the study are to: Identify a dose and dosing regimen of burosumab, based on safety and pharmacodynamic (PD) effect, in pediatric XLH participants Establish the safety profile of burosumab for the treatment of…
- Trial name
- NCT02163577
- Testing
- burosumab
- Where
- 9 sites in United States, France and 2 more
- Volunteers
- 52 people
- Sponsor
- Kyowa Kirin, Inc.
Friedreich's Ataxia
(+) Epicatechin to Treat Friedreich's Ataxia
This 24-week study will test the safety and effectiveness of synthetically produced (+) Epicatechin in treating patients who have Friedreich's Ataxia, a neurological disorder.
- Trial name
- NCT02660112
- Testing
- (+)-Epicatechin
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Ralitza Gavrilova
TSC1, TSC2
Everolimus for Cancer With TSC1 or TSC2 Mutation
In this research study, the investigators are evaluating the clinical benefit of everolimus in cancer patients with inactivating TSC1 or TSC2 mutations or activating MTOR mutations.
- Conditions
- TSC1, TSC2, Tuberous Sclerosis Complex, MTOR
- Trial name
- NCT02201212
- Testing
- Everolimus
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Dana-Farber Cancer Institute
Lipodystrophy Congenital Generalized, Lipodystrophy, Familial Partial
Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner's Syndrome: a Case-control Study
Turner syndrome (TS) and congenital lipodystrophy syndromes (LS) are rare conditions with major consequences on cardiometabolic health, fertility, and body morphology.
- Conditions
- Lipodystrophy Congenital Generalized, Lipodystrophy, Familial Partial, Turner Syndrome
- Trial name
- LIPTURN (NCT07799012)
- Where
- France
- Volunteers
- 1,416 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Chronic Granulomatous Disease
IL-1 Receptor Inhibitor for Granulomatous Complications in Patients With Chronic Granulomatous Disease
"Kineret" (INN: Anakinra) neutralizes the biological activity of interleukin-1α (IL-1α) and interleukin-1β (IL-1β) by the concurrent inhibition of binding to interleukin-1 receptor I (IL-1RI).
- Trial name
- NCT04136028
- Testing
- Kineret
- Where
- Russia
- Volunteers
- 13 people
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Beta Thalassemia Major
the Potential Immunomodulatory Effects of Spirulina on Thalassemic Children
The aim of this study is to evaluate the possible immunologic effects of spirulina in children with beta thalassemia.
- Trial name
- NCT02674607
- Testing
- Spirulina
- Where
- Egypt
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Tanta University
Atopic Dermatitis, Psoriasis
Identification of Cutaneous and Blood Biomarkers Predictive of Response to Systemic Treatments During Chronic Inflammatory Skin Diseases
Chronic inflammatory skin diseases constitute a heterogeneous group of pathologies. They affect the skin but also other organs (joints, lungs, muscles, etc.). Their prognosis and response to treatments is extremely variable.
- Conditions
- Atopic Dermatitis, Psoriasis, Hidradenitis Suppurativa, Lichen Planus
- Trial name
- ImmuneSkinBank (NCT06599411)
- Testing
- Sampling
- Where
- France
- Volunteers
- 830 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Primary Immunodeficiency Disease
Study to Investigate Efficacy, Safety and Pharmacokinetics of BT595 in Subjects With PID
This Phase III clinical study is to test efficacy, safety and pharmacokinetics of BT595 in treating patients with Primary Immunodeficiency (PID)
- Trial name
- NCT02810444
- Testing
- IgG Next Generation (BT595)
- Where
- 19 sites in United States, Germany and 3 more
- Volunteers
- 81 people
- Sponsor
- Biotest
Parent-Child Relations
Effects of Infant Massage on Acceptance, Commitment and Conscience of Influence of Parents With Down Syndrome Babies
This study aims to analyze whether the course of infant massage serves as a tool to improve acceptance, commitment and awareness of influence of parents of babies with Down syndrome.
- Trial name
- NCT03126734
- Testing
- Infant Massage course
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University of Seville