Clinical trials: Genetic Conditions
Lennox-Gastaut Syndrome
A Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients (Study E2080-J081-304)
To confirm that the combination therapy of rufinamide has superior efficacy compared to placebo in patients with Lennox-Gastaut syndrome.
- Trial name
- NCT01146951
- Testing
- Rufinamide (E2080)
- Where
- 23 sites in Japan
- Volunteers
- 66 people
- Sponsor
- Eisai Limited
Cancer
Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment
RATIONALE: Caspofungin acetate or amphotericin B liposomal may be effective in preventing or controlling fever and neutropenia caused by chemotherapy, bone marrow transplantation, or peripheral stem cell transplantation.
- Trial name
- NCT00008359
- Testing
- caspofungin acetate, liposomal amphotericin B
- Where
- United States
- Sponsor
- Memorial Sloan Kettering Cancer Center
Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM)
AI-enabled Screening and Diagnosis of Cardiomyopathies Using Coronary CTA
The goal of this observational and diagnostic study is to develop and validate an artificial intelligence assisted approach for coronary computer tomography angiography-(CCTA)-based screening and diagnosis of cardiomyopathies in…
- Conditions
- Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Restrictive Cardiomyopathy
- Trial name
- Atlantis (NCT06748261)
- Testing
- CCTAI model
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Zhongshan Hospital
DiGeorge Syndrome, Shprintzen Syndrome
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II.
- Conditions
- DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple
- Trial name
- NCT00005102
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- National Center for Research Resources (NCRR)
Turner Syndrome
Somatropin Treatment to Final Height in Turner Syndrome
A randomized, controlled trial in girls with Turner syndrome at least 7 years old and younger than 13 at study entry, to determine the efficacy and safety of Humatrope (somatropin) treatment in promoting linear growth to final…
- Trial name
- GDCT (NCT00191113)
- Testing
- Somatropin, Ethinyl estradiol, Medroxyprogesterone acetate
- Where
- 14 sites in Canada
- Volunteers
- 154 people
- Sponsor
- Eli Lilly and Company
Obesity, Childhood
Food Genetics Behavior Study
A genetic risk for obesity does not always translate to the development of obesity among children, which points to the presence of risk-modifying factors that likely relate to energy balance behaviors as key behavioral drivers.
- Trial name
- FOODIE (NCT05783765)
- Testing
- Heightened Drive to Eat
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Hyperhomocysteinemia, Thrombotic, Cbs-Related, Ischemic Stroke
Methylenetetrahydrofolate Reductase Deficiency in Ischemic Stroke
Adult onset epileptic seizures is rare and often associated with metabolic disorders, drugs and intracranial pathologies such as ischemia, hemorrhage or space-occupying lesions.
- Conditions
- Hyperhomocysteinemia, Thrombotic, Cbs-Related, Ischemic Stroke, Epilepsy
- Trial name
- NCT04287881
- Testing
- Methylenetetrahydrofolate reductase (MTHFR) deficiency
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 32 people
- Sponsor
- Istanbul Medeniyet University
Hurler Syndrome (MPS I), Hurler-Scheie Syndrome
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
The goal of this research study is to establish chimerism and avoid graft-versus-host-disease (GVHD) in patients with inherited metabolic disorders.
- Conditions
- Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III)
- Trial name
- NCT01372228
- Testing
- hematopoietic stem cell infusion
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Talaris Therapeutics Inc.
Cystic Fibrosis, Atypical Mycobacterium Infection
Multicenter Study of Nontuberculous Mycobacteria in Cystic Fibrosis Patients
OBJECTIVES: I. Determine the prevalence of nontuberculous mycobacteria in sputum cultures from patients with cystic fibrosis. II. Compare the clinical course of patients with negative versus positive cultures.
- Trial name
- NCT00004296
- Volunteers
- 1,000 people
- Sponsor
- National Center for Research Resources (NCRR)
Sepsis
Algorithm for Predicting the Unfavorable Course of Sepsis in Children
A comprehensive strategy will be used to investigate the relationship and correlation between 4 diagnostically significant markers relevant for early diagnosis and prediction of complications and death in the development of…
- Trial name
- NCT05908162
- Testing
- Bood leukocyte subsets
- Where
- Belarus
- Volunteers
- 185 people, healthy volunteers welcome
- Sponsor
- The Republican Research and Practical Center for Epidemiology and Microbiology
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues.
- Conditions
- GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
- Trial name
- Imagine-1 (NCT04713475)
- Testing
- PBGM01
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 26 people
- Sponsor
- Gemma Biotherapeutics
Intrauterine Growth Restriction, Fetal Anomaly
Diagnosis and Management of Intrauterine Growth Restriction and Congenital Anomalies
The purpose of this prospective cohort study is to build a large platform that includes clinical information (prenatal diagnosis and postnatal follow-up data) and biological specimen banks of fetuses/infants with IUGR or…
- Conditions
- Intrauterine Growth Restriction, Fetal Anomaly, Chromosomal Anomalies, Pregnancy
- Trial name
- NCT03398629
- Where
- China
- Volunteers
- 10,000 people
- Sponsor
- Guangzhou Women and Children's Medical Center
Nervous System Malformations, Arthropathy, Neurogenic
Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease
This study will evaluate the safety and effectiveness of anakinra (Kineret) for treating patients with neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurological, cutaneous and…
- Conditions
- Nervous System Malformations, Arthropathy, Neurogenic, Urticaria, Papilledema
- Trial name
- NCT00069329
- Testing
- anakinra
- Where
- United States
- Volunteers
- 43 people
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Leukemia
Genetic Study of Chronic Lymphocytic Leukemia Families
The goal of this research is to identify genes that may be related to the risk of developing CLL. Objectives: The objective of this study to investigate possible candidate susceptibility genes for familial chronic lymphocytic…
- Trial name
- NCT00503256
- Testing
- Questionnaire
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Pseudohypoparathyroidism
Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism
OBJECTIVES: Determine the relationship between serum calcium concentrations and parathyroid hormone secretion in patients with pseudohypoparathyroidism.
- Trial name
- NCT00004661
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies
Genetic Disease Gene Identification
This is a a study to identify inherited disease genes. The study will use molecular techniques to map genetic diseases using techniques such as Affymetrix SNP chips.
- Conditions
- Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies, Idiopathic Generalised Epilepsy, Familial Dementia
- Trial name
- NCT00916903
- Where
- United States
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- State University of New York - Upstate Medical University
Abetalipoproteinemia
Vitamin Replacement in Abetalipoproteinemia
This study will determine whether short term intravenous infusion of vitamins A and E in patients with abetalipoproteinemia can reverse disease symptoms in these patients.
- Trial name
- NCT00004574
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Overweight, Infant, Overweight and Obesity
Lille Study for Childhood Health Promotion
Obesity could be avoided but once declared it become a chronic disease with numerous health complications, including cardiovascular and metabolic diseases, cancers, and finally a loss of life expectancy.
- Conditions
- Overweight, Infant, Overweight and Obesity, Overweight, Childhood
- Trial name
- ELIPSE (NCT05121090)
- Testing
- Educational program
- Where
- France
- Volunteers
- 460 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Chronic Pancreatitis, Genetic Mutation
An Observational Study on the Natural Course of Chronic Pancreatitis
To explore the impact on genetic and environmental factors for clinical manifestation, and the progression of chronic pancreatitis, including development of pancreatic insufficiency and other complications.
- Conditions
- Chronic Pancreatitis, Genetic Mutation, Smoking, Tobacco, Drinking, Alcohol
- Trial name
- NCT04574297
- Testing
- smoking and alcohol assumption, genetic sequencing
- Volunteers
- 798 people
- Sponsor
- Changhai Hospital
Epidermolysis Bullosa Simplex Dowling Meara
Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara
Introduction: Epidermolysis Bullosa Simplex-Dowling-Meara (DM-EBS) is a rare genodermatosis characterized by spontaneous or post traumatic large cutaneous blisters. No curative treatment is actually available.
- Trial name
- NCT01556308
- Testing
- Taking of liquid and top of blisters
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
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