Research Studies Finder

Individuals with a certain type of beta thalassemia that is treated with regular transfusions, and who are 50 years old and younger, may be able to participate. A number of screening tests will be done to determine if subjects can participate. These include review of your past medical history, blood and urine tests, bone marrow aspirate/biopsy, bone age/ DEXA scan, heart ultrasound, electrocardiogram, magnetic resonance imaging (MRI) of the heart and liver, and liver biopsy. If eligible, blood stem cells will be collected by apheresis or by bone marrow harvest. These stem cells will then have a healthy beta globin gene inserted. You will then be hospitalized and chemotherapy will be given to empty out the bone marrow. The stem cells, with the inserted gene, will then be given back to you. You will be followed for side effects and to see if the inserted gene helps you make hemoglobin.

The aim of this study is to determine ifNB-001 (an investigational drug that is not approved by the FDA) is effective, safe, and well tolerated intreating children and adolescents with 22q11DS and anxiety, inattention, and/or autism. The study will take place over a 21-week period with routine telemedicine check-ins, home health nurse visits, and behavioral questionnaires. Except for the first visit which will be in-person at the CHOP Philadelphia campus, all other study visits will be done at the patient's home by a study nurse.

The purpose of this new clinical trial is to investigate study drug REN001 in adult patients with Primary Mitochondrial Myopathy. REN001 is currently not approved by the U.S. Food and Drug Administration nor any other regulatory agencies for this disease; it is considered an experimental drug. The study period will last for approximately 9 months and will include at least 4 outpatient visits at CHOP, where participants will be provided the study drug or placebo and monitored for safety. The study also involves blood and urine tests, cardiac tests, physical exercise tests, and other study procedures. For more information: https://www.clinicaltrials.gov/ct2/show/NCT04535609 Participants will be able to receive travel support and reimbursement for related expenses.

The goal of this study is to investigate the efficacy and safety of Canagliflozin (which is experimental) in children and adolescents ages 10 to 18 years old with Type 2 diabetes and poor control (i.e., an HbA1c of 6.5% to 10.5%). Study drug or placebo would be taken alone or with metformin or insulin as needed. Monitoring tests include blood, urine, physical exams, vital signs, blood sugar and ketone monitoring, diabetes management counseling.

The PRISM study is looking to understand what happens to children and young adults who get infected with SARS-CoV-2 and how their immune system responds. To do this, we are examining blood, urine, stool, saliva, and nasal swab samples, as well asinformation related to SARS-CoV-2 infection and MIS-C, collected from subjects.We will also study subjects' results onbreathing tests, echocardiograms, electrocardiograms, and a chest CT scan. Participation lasts for up to 1 year and includes in-person, telephone, and video study visits.

This study will evaluate the safety and effectiveness of the MiniMed 780G insulin pump system used in combination with the DS5 CGM in type 1 diabetic pediatric participants in a home setting.

This study aims to support familieswith buying, cooking, and eating fresh fruits and vegetables at home! The goal of this study is to learn how fruit and vegetable vouchers and virtual cooking classes and resources affect families' experiences with home cooking and food shopping, as well as caregiver mental health.

The purpose of this research study is to learn more about Graves disease and PTC/Hypothyroidism, How it effects brain function and brain function changes after starting medical treatment.

Researchers from the University of Pennsylvania (UPenn) and the Childrens Hospital of Philadelphia (CHOP) have joined together to support a National Institutes of Health (NIH) program called Environmental influences on Child Health Outcomes (ECHO). This large, observational child health research study began in 2016 to try to answer big questions about how influences in early human development, even before birth, affect us throughout our lives and across generations. The ECHO program is focused on five areas of childrens health: pregnancy and birth, breathing, body weight, brain development, and well-being. By enrolling pregnant individuals and their children from diverse backgrounds (racially, ethnically, and socioeconomically), the Penn-CHOP research team will help contribute to the understanding and enhancement of children for generations to come.

Kidney stones are one of the fastest growing health conditions among children, adolescents, and young adults. The rapid increase over a short period of time has resulted in a large number of pediatric patients who require surgery to remove kidney stones with very little information available to guide selection of treatment options. There are three alternative approaches to remove kidney stones:

• Ureteroscopy (an endoscopic outpatient procedure)
• Shockwave lithotripsy (a noninvasive outpatient procedure)
• Percutaneous nephrolithotomy (a minimally invasive surgery with a short hospital stay)