Clinical trials: Congenital Anomalies
Pediatric Cancer, Li-Fraumeni Syndrome
Arsenic Trioxide Combined With Chemotherapy for the Treatment of p53-mutated Pediatric Cancer
This prospective, single-arm, multi-center clinical trial aims to explore and evaluate the efficacy and safety of arsenic trioxide combined with chemotherapy for pediatric cancer with p53 mutation.
- Conditions
- Pediatric Cancer, Li-Fraumeni Syndrome, p53 Mutations
- Trial name
- NCT06088030
- Testing
- Arsenic trioxide
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Yang Li
Congenital Heart Disease, Cardiovascular Disease
Pilot Study of B-Type Natrieutic Peptide (BNP) Levels in Patients With Congenital Heart Disease(BNP)
The object of this study is to measure the levels of B-type Natriuretic Peptide (BNP) in patients with congenital heart disease, normal individuals, and patients with acquired heart failure, and compare the results from each…
- Trial name
- NCT00308230
- Testing
- Six minute walk test, Minnesota Living with Heart Failure Questionnaire
- Volunteers
- 34 people
- Sponsor
- Emory University
Dystrophic Epidermolysis Bullosa
Pilot Study Evaluating the Efficiency and the Tolerance of the PDT in the Treatment of Epidermal Dysplasia for Patients Affected by Hereditary DEB
The hereditary dystrophic epidermolysis bullosa are genodermatosis responsible of a poor adhesion of the epidermis to the dermis pulling a large mucocutaneous fragility and recurrent spontaneous or posttraumatic bullous…
- Trial name
- NCT02004600
- Testing
- Photodynamic therapy (PDT)
- Where
- 2 sites in France
- Sponsor
- Centre Hospitalier Universitaire de Nice
Haemophilia
Inter Individual Variability in Initiation Pathway Activation and Regulation and Phenotypic Heterogeneity in Patients With Haemophilia A and B
Severe haemophilia A and B (SHA, SHB) are X - linked inherited bleeding disorders, characterised by factor VIII and IX levels of <1 IU/dL respectively.
- Trial name
- InPath (NCT03287999)
- Testing
- Thrombophilia screen, Initiation pathway analysis
- Where
- United Kingdom
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Royal Free Hospital NHS Foundation Trust
Facial Trauma, Facial Deformity
Face Transplantation
Face allotransplantation will be performed in facial trauma patients. Immune suppression will primarily be provided according to standard three-drug regimen.
- Conditions
- Facial Trauma, Facial Deformity, Facial Injuries
- Trial name
- NCT05699187
- Testing
- Face allotransplantation
- Sponsor
- Massachusetts General Hospital
Breast Cancer, Kidney Cancer
Combination Chemotherapy and Total-Body Irradiation Before Donor Umbilical Cord Blood Transplant in Treating Patients With Advanced Hematologic Cancer, Metastatic Breast Cancer, or Kidney Cancer
RATIONALE: Giving low doses of chemotherapy and radiation therapy before a donor umbilical cord blood stem cell transplant helps stop the growth of cancer cells.
- Conditions
- Breast Cancer, Kidney Cancer, Leukemia, Lymphoma
- Trial name
- NCT00365287
- Testing
- anti-thymocyte globulin, cyclophosphamide, cyclosporine
- Volunteers
- 148 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Shwachman Syndrome, Fanconi's Anemia
Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure…
- Conditions
- Shwachman Syndrome, Fanconi's Anemia, Dyskeratosis Congenita, Thrombocytopenia
- Trial name
- NCT00004787
- Testing
- filgrastim
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage
HEMOLEVEN® Expanded Access Program Prevention of Surgical/Postpartum Hemorrhage Severe Inherited Factor XI Deficiency
The objective of the Expanded Access Program is to provide HEMOLEVEN, a replacement coagulation factor XI, to patients with severe inherited factor XI deficiency where, in the opinion of the treating physician, the benefits of…
- Conditions
- Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage, Surgery
- Trial name
- EAP (NCT01701947)
- Testing
- Hemoleven
- Where
- United States
- Sponsor
- Laboratoire français de Fractionnement et de Biotechnologies
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fetal Macrosomatia, Lipid Metabolism Disorders
Influence of TyG Index and TG/HDL-C Ratio on Fetal Macrosomia
Metabolic disorders that can occur during pregnancy, in particular disorders of lipid metabolism and insulin resistance, can have a detrimental effect on pregnancy and the fetus.
- Conditions
- Fetal Macrosomatia, Lipid Metabolism Disorders, Hyperlipidemias
- Trial name
- NCT06463990
- Testing
- TyG index
- Where
- Turkey (Türkiye)
- Volunteers
- 302 people, healthy volunteers welcome
- Sponsor
- Ankara Etlik City Hospital
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Adult Acute Megakaryoblastic Leukemia (M7), Adult Acute Minimally Differentiated Myeloid Leukemia (M0)
S0432 Tipifarnib in Treating Older Patients With Acute Myeloid Leukemia
This randomized phase II trial is studying 4 different tipifarnib regimens to compare how well they work in treating older patients with acute myeloid leukemia.
- Conditions
- Adult Acute Megakaryoblastic Leukemia (M7), Adult Acute Minimally Differentiated Myeloid Leukemia (M0), Adult Acute Monoblastic Leukemia (M5a), Adult Acute Monocytic Leukemia (M5b)
- Trial name
- NCT00093418
- Testing
- tipifarnib
- Where
- United States
- Volunteers
- 296 people
- Sponsor
- National Cancer Institute (NCI)
Huntington's Disease
Open Label Extension Study To Investigate Long Term Safety, Tolerability And Efficacy Of Pf-02545920 In Subjects With Huntington's Disease Who Completed Study A8241021
This study is a 12 month open label extension study of PF-02545920 20 mg dosed BID following study A8241021 in subjects with HD. Primary endpoints will be to assess long-term safety and tolerability of 20 mg BID of PF-02545920.
- Trial name
- NCT02342548
- Testing
- 20 mg BID of PF-02545920
- Where
- 50 sites in United States, Canada and 3 more
- Volunteers
- 188 people
- Sponsor
- Pfizer
Fetal Growth Restriction
Timing of Delivery in Fetal Growth Restriction of Uncomplicated Women
The goal of the study is to determine whether labor induction at 37 weeks of pregnancy can improve the baby's health at birth when compared with delivery at a later point in the pregnancy.
- Trial name
- GROW (NCT03046355)
- Testing
- Labor induction at 37.0 to 37.6 weeks of gestation, Expectant monitoring until delivery
- Where
- 3 sites in United States
- Volunteers
- 21 people
- Sponsor
- The University of Texas Health Science Center, Houston
Coronary Arteriosclerosis, Hypoalphalipoproteinemias
High-Density Lipoprotein (HDL) Treatment Study
A low level of plasma high-density lipoprotein (HDL) cholesterol, "the good cholesterol", is the most common lipid abnormality observed in patients with a premature atherosclerotic cardiovascular disease.
- Conditions
- Coronary Arteriosclerosis, Hypoalphalipoproteinemias, Genetic Diseases, Inborn
- Trial name
- NCT00458055
- Testing
- Atorvastatin; Fenofibrate; Niacin
- Where
- Canada
- Volunteers
- 19 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Cystic Fibrosis
Surrogate Markers of Response to New Therapies in Cystic Fibrosis Patients
The purpose of this study is to determine which biological marker, or association of biological markers, best predict clinical response of cystic fibrosis patients to CFTR modulators.
- Trial name
- BIO-CFTR (NCT02965326)
- Testing
- Nasal swab; rectal biopsy.
- Where
- France
- Volunteers
- 75 people
- Sponsor
- Hôpital Necker-Enfants Malades
Patient Empowerment
Mobile Video Education to Improve Patient Clinician Communication During Prenatal Clinic Visits
The goal of this clinical trial is to test an animated video delivered by text message in patients whose pregnancies are complicated with fetal anomalies.
- Trial name
- NCT06323343
- Testing
- Video Intervention, Webpage links
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Medical College of Wisconsin
Cystic Fibrosis, Periodontitis
Cystic Fibrosis and Periodontal Diseases
The number of CF adults is increasing year after year (61.7% in 2021) confirming that patients are living longer. These data do not leave aside the desire to see CF patients "age well" considering of all the comorbidities linked…
- Conditions
- Cystic Fibrosis, Periodontitis, Gingivitis
- Trial name
- MucoParo (NCT06133335)
- Testing
- Periodontal examination
- Where
- France
- Volunteers
- 50 people
- Sponsor
- CHU de Reims
Systemic Lupus Erythematosus, Inflammatory Myopathy
BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases
The objective of this study is to evaluate the efficacy and safety of BCMA/CD19 chimeric antigen receptor (CAR)-modified T cells in the treatment of autoimmune diseases.
- Conditions
- Systemic Lupus Erythematosus, Inflammatory Myopathy, Systemic Sclerosis (SSc), ANCA-associated Vasculitis
- Trial name
- NCT06794008
- Testing
- BCMA-CD19 CAR-T therapy
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Peking University People's Hospital
Spina Bifida, Cerebral Palsy
Assessing Transition Practices for Children With Disabilities: Pathways to a Successful Adulthood
Transition to adult care is a purposeful and structured movement of youth with complex disabilities from child centered to adult oriented services. This complex and potentially challenging period requires careful planning.
- Conditions
- Spina Bifida, Cerebral Palsy, Spinal Cord Injury, Spastic Paraplegia
- Trial name
- NCT07706517
- Testing
- Chart review, Semi-structured interview
- Where
- France
- Volunteers
- 128 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne