Clinical trials: Congenital Abnormalities
Abnormalities, Patellofemoral Pain Syndrome
Vasti Control of Patellofemoral Kinematics in Asymptomatic Volunteer
Background: Patellofemoral pain syndrome is one of the most common knee problems. It is characterized by pain in the front of the knee that is aggravated by deep knee flexion, prolonged sitting, and repetitive movement.
- Trial name
- NCT00978003
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
Alpha 1 Antitrypsin Deficiency
A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)
This is a Phase 1, open-label, single ascending dose (SAD) and multiple dose (MD) study of AIR-001 in participants with alpha-1 antitrypsin deficiency (AATD) due to PiZZ genotype.
- Trial name
- RepAIR1 (NCT07431112)
- Testing
- AIR-001 SAD dose level 1, AIR-001 SAD dose level 2, AIR-001 SAD dose level 3
- Where
- 13 sites in Australia, Georgia and 7 more
- Volunteers
- 54 people
- Sponsor
- AIRNA Corporation
Intellectual Disabilities, Congenital Anomaly
Genome Medical Sequencing for Gene Discovery
Background: A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown.
- Conditions
- Intellectual Disabilities, Congenital Anomaly, Rare Disorders
- Trial name
- NCT01087320
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hematopoietic/Lymphoid Cancer, Accelerated Phase Chronic Myelogenous Leukemia
Infection Prophylaxis and Management in Treating Cytomegalovirus (CMV) Infection in Patients With Hematologic Malignancies Previously Treated With Donor Stem Cell Transplant
RATIONALE: Infection prophylaxis and management may help prevent cytomegalovirus (CMV) infection caused by a stem cell transplant.
- Conditions
- Hematopoietic/Lymphoid Cancer, Accelerated Phase Chronic Myelogenous Leukemia, Acute Undifferentiated Leukemia, Adult Acute Lymphoblastic Leukemia in Remission
- Trial name
- NCT01199562
- Testing
- infection prophylaxis and management, laboratory biomarker analysis, flow cytometry
- Where
- United States
- Volunteers
- 153 people
- Sponsor
- City of Hope Medical Center
Leukemia
Daunorubicin, Cytarabine, and Midostaurin in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia
The purpose of this study is to compare the effects, good and/or bad, of a standard chemotherapy regimen for AML that includes the drugs daunorubicin and cytarabine combined with or without midostaurin (also known as PKC412), to…
- Trial name
- NCT00651261
- Testing
- cytarabine, daunorubicin, midostaurin
- Where
- 176 sites in United States, Canada
- Volunteers
- 717 people
- Sponsor
- Alliance for Clinical Trials in Oncology
Leber Congenital Amaurosis 10, Blindness
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A>G…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders
- Trial name
- HYPERION (NCT06891443)
- Testing
- sepofarsen
- Where
- 18 sites in United States, Australia and 8 more
- Volunteers
- 32 people
- Sponsor
- Laboratoires Thea
Panhypopituitarism, Gigantism/Acromegaly
An Investigation of Pituitary Tumors and Related Hypothalmic Disorders
There is a variety of tumors affecting the pituitary gland in childhood; some of these tumors (eg craniopharyngioma) are included among the most common central nervous system tumors in childhood.
- Conditions
- Panhypopituitarism, Gigantism/Acromegaly, Prolactinoma, Cushing Disease
- Trial name
- NCT00001595
- Testing
- Tissue specimen collection, MRI
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Leukemia, Myelodysplastic Syndromes
Clofarabine and High-Dose Melphalan Followed by Donor Stem Cell Transplant in Patients With Acute Myeloid Leukemia, Acute Lymphocytic Leukemia, or Myelodysplastic Syndromes
RATIONALE: Giving chemotherapy, such as clofarabine and melphalan, before a donor stem cell transplant helps stop the growth of cancer or abnormal cells.
- Trial name
- NCT00641030
- Testing
- clofarabine, melphalan, gene expression analysis
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- City of Hope Medical Center
Abnormalities, Imaging
MRI Study of Musculoskeletal Function
This study will use magnetic resonance imaging (MRI) and ultrasound images to study how muscles, tendons, and bones work together to cause motion.
- Conditions
- Abnormalities, Imaging, Patellofemoral Pain Syndrome
- Trial name
- NCT00051857
- Where
- United States
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- National Institutes of Health Clinical Center (CC)
Congenital Heart Disease, Heart Disease
The Genetic Basis of Congenital Heart Disease in Africa
Recent advances in genomic techniques are making possible a new wave of genetic discovery in congenital heart disease (CHD). Existing data suggests that CHD occur in Sub-Saharan Africa at frequencies similar to the rest of the…
- Trial name
- NCT01952171
- Where
- United States
- Volunteers
- 1,233 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Brain Disorders, Birth Defects
Study on Moebius Syndrome and Congenital Facial Weakness Disorders
Background: Moebius syndrome limits the ability to make facial expressions like smile, frown or blink - and move the eyes laterally.
- Conditions
- Brain Disorders, Birth Defects, Craniofacial Differences
- Trial name
- NCT02055248
- Where
- United States
- Volunteers
- 207 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cesarean Section Complications, Scar; Deformity
Uterine Closure Techniques and Cesarean Scar Defect Risk
Cesarean operations are one of the most common obsetric operations and have an increasing trend in all over the world. However unfortunately the operation techniques have not been standardized yet.
- Trial name
- NCT05100147
- Testing
- Uterine closure during Cesarean section
- Where
- Turkey (Türkiye)
- Volunteers
- 43 people
- Sponsor
- Mersin University
Homozygous Familial Hypercholesterolemia
Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia
This study will evaluate the efficacy and safety of zodasiran subcutaneous (sc) injection in participants 12 to <18 years of age with genetically or clinically diagnosed homozygous familial hypercholesterolemia (HoFH) and…
- Trial name
- SPRUCE (NCT07473843)
- Testing
- Zodasiran
- Where
- 2 sites in United States, Denmark
- Volunteers
- 10 people
- Sponsor
- Arrowhead Pharmaceuticals
Disorders of Sex Development (DSD), Pediatric and Adolescent Cancers of the Genital Tract
Data Collection Study of Pediatric and Adolescent Gynecology Conditions
Background: Gynecologic conditions are those that are related to the reproductive system. They can be reproductive gland disorders or reproductive system tumors. They can also be inborn anomalies of the reproductive tract.
- Conditions
- Disorders of Sex Development (DSD), Pediatric and Adolescent Cancers of the Genital Tract, Reproductive Endocrine Conditions in Puberty, Structural Gynecologic Conditions Including Vulvar and Vaginal Conditions
- Trial name
- NCT04717349
- Where
- United States
- Volunteers
- 11,000 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Birth Defects, Multiple Congenital Anomaly
Genetic Inclusion by Virtual Evaluation
This study aims to transform the current clinical practice paradigm by leveraging an internally designed web-based model of delivery of care called Consultagene to provide remote evaluation and genomic sequencing for improving…
- Conditions
- Birth Defects, Multiple Congenital Anomaly, Neurodevelopmental Disorders
- Trial name
- GIVE (NCT05318222)
- Testing
- Whole genome sequencing (WGS)
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Neonatal Patients Undergoing Major Non-cardiac Surgery, Congenital Anomaly
Neonatal Enhanced Recovery After Surgery (ERAS) Outcomes Study
The goal of this observational study is to improve the way newborn babies are cared for before, during, and after major surgery. Surgery can be very stressful on a baby's body.
- Trial name
- NEO (NCT07771478)
- Testing
- Pre-nERAS Guideline Implementation Intervention, Multifaceted Implementation of nERAS Guideline Intervention
- Where
- 3 sites in Canada, United Kingdom
- Volunteers
- 400 people
- Sponsor
- The Hospital for Sick Children
Glaucoma, Suspect, Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics
The majority of young children do not think that visual field (VF) testing of peripheral vision is similar to a game; therefore, it is not surprising that they have difficulty maintaining attention during VF testing and thus the…
- Conditions
- Glaucoma, Suspect, Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System, Congenital Coloboma of the Optic Nerve, Optic Nerve Head Pits, Bilateral Congenital
- Trial name
- NCT02157025
- Testing
- Cartoon video fixation target and cartoon character voice audio instructions during Humphrey perimetry, Usual Care procedures during Humphrey perimetry for children
- Where
- United States
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- Nova Southeastern University
Zika Virus Infection on Fetus and Child During the Pregnancy
Zika Virus Infection's Neonatal and Pediatric Consequences in French Department of America
The Zika epidemic has spread into the three French Overseas Departments in the Caribbean (DFAs). It is therefore urgent to set up tools to collect clinical and paraclinical data for the evaluation of potential complications due…
- Trial name
- ZIKA-DFA-BB (NCT02810210)
- Testing
- fundus examination, Head ultrasound
- Where
- 6 sites in France, French Guiana and 2 more
- Volunteers
- 1,180 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Primary Knee Arthroplasty
ATTUNE® Revision- Complex Primary in Total Knee Arthroplasty Population
Five-year, Prospective, multi-center, non-randomized, non-controlled study of the ATTUNE® Revision total knee prostheses, utilizing the fixed bearing (FB) and rotating platform (RP) tibial component with the posterior stabilizing…
- Trial name
- NCT03153449
- Testing
- ATTUNE Revision Knee System in Total Knee Arthroplasty
- Where
- 34 sites in United States, Australia and 8 more
- Volunteers
- 400 people
- Sponsor
- DePuy Orthopaedics
Hernias, Diaphragmatic, Congenital, Hernia; Diaphragm Defect, Congenital
Physiological-based Cord Clamping in Congenital Diaphragmatic Hernia
Pulmonary hypertension is a major determinant of postnatal survival in infants with a congenital diaphragmatic hernia (CDH). The current care during the perinatal stabilisation period in infants born with this rare birth defect…
- Conditions
- Hernias, Diaphragmatic, Congenital, Hernia; Diaphragm Defect, Congenital, Pulmonary Hypertension
- Trial name
- PinC (NCT04373902)
- Testing
- Physiological-based cord clamping
- Where
- 9 sites in Australia, Austria and 5 more
- Volunteers
- 144 people
- Sponsor
- Erasmus Medical Center