The purpose of this research study is to learn more about the safety and effects of CTX001 (the “Study Product”) in patients ages 12 to 35 years who have been diagnosed with severe sickle cell disease. This is an open-label study in which subjects will receive one dose of the Study Product. The goal of is to see if a single “dose” of the Study Product allows the body to increase the amount of hemoglobin F (HbF) while decreasing the effects of SCD. CTX001, which is created by changing (editing) the DNA in the subjects blood stem cells near a gene called BCL11A

The goal of this study is to observe patients with Homocystinuria (CBSDH) over 3 years to learn how their disease is managed under regular circumstances. This study does not involve any investigational medications, but will provide information to researchers who are currently developing a medication to treat the disease. The study has 5 main parts, all of which are provided free of charge to participants: DXA exam, blood draws, ophthalmology exam, cognitive testing, and physical exams. To learn more about the study, please contact our team via the information listed below.

You are invited to take part in a voluntary research trial because you have a genetic defect in vitamin D metabolism that causes elevated blood and/or urine levels of calcium and you are between the ages of 6 months and 65 years. You will be given a rifampin, which is an antibiotic drug that has been approved in the US by the FDA for treatment of many infections. Rifampin has not been approved for use in disorders of vitamin D metabolism. If you meet all criteria, you will be asked to come to CHOP for study visits and have phone calls for a total of approximately 48 weeks. Besides administration of the study product, the study procedures include: review of medical records, physical exam, ultrasound of the kidneys, blood and urine tests, tests of intestinal calcium absorption and nutritional assessment. Participants aged 3 years or older will also have a DXA scan performed. You will be compensated for your time and reimbursed for travel.

The Alterra study is for patients in need of pulmonary valve replacement. The Alterra Adaptive Prestent is a transcatheter stent designed for patients in need of a pulmonary valve replacement who do not want to have to undergo surgery, but have a pulmonary artery poorly suited for current approved transcatheter valves. Surgical placement of a new valve is the most common treatment for a nonworking pulmonary valve, however, there are many risks associated with open heart surgery and it is followed by months of recovery. We are conducting this study to see whether there is a less invasive approach by placing and Alterra Adaptive Prestent to make the pulmonary artery appropriate for transcatheter valve replacement. The Alterra Adaptive Prestent has not been approved by the FDA yet for commercial use and is only available by participating in the study. Please contact Dr. Matthew Gillespie (gillespie@email.chop.edu) if you or your patient may be interested in participating in the trial of this device.

The purpose of this research study is to learn more about the normal function of blood vessels in healthy children and adolescents. This will help us discover differences between healthy individuals and children with lupus. Healthy control participants will be asked to make 1 visit to CHOP to complete a brief survey, a fasting blood draw and a test to measure the blood pressure in your fingers.

Children and adults with Beckwith-Wiedemann syndrome may be at increased risk for sleep apnea than other children. This risk may be due to a larger tongue size, but currently it is not known how to predict who need to be evaluated for sleep apnea. Some people with Beckwith-Wiedemann syndrome have tongue reduction surgery, but the effect of this procedure on sleep apnea is not known. This study seeks to understand how the upper airway anatomy contributes to sleep apnea in people with Beckwith-Wiedemann syndrome, including after tongue reduction surgery in people who have that procedure. The study includes a physical exam, medical record review (including surgical history), and upper airway MRI. For those participants who have not had a clinical sleep study, one will be done as part of this study.

CHOP is partnering with Children's National Medical Center (CNMC) to create a research database of data and blood samples of people who have autosomal polycystic kidney disease (ARPKD) or another hepato/renal fibrocystic disease (HRFD). The purpose is to try to learn more about the causes of these diseases. If you are interested in participating, we will collect data from your medical record to contribute to the database at CNMC. You may also provide an optional blood sample. You may visit arpkdb.org and download the FAQs for you and your child’s doctor or call the CHOP Research Coordinator, Mohini Dutt, at 267-425-3933.

Children and adults with PTEN Hamartoma Tumor Syndrome (PHTS) are at risk for specific long-term medical complications including autism spectrum disorder and cancer. While protocols for cancer screening exist, we do not yet have protocols for screening other complications of this syndrome, including neurobehavioral differences and immunologic changes. This pilot study will assess these outcomes in children and young adults with PHTS ages 1 to 20 years.

The purpose of this research study is to determine methods that will better determine whether someone has MS and to develop ways to measure the disease. These tests will help doctors learn about vision and how the brain processes information from your eyes in people with MS and healthy people. You will be asked to spend the day at CHOP to complete vision testing and other study procedures. Please contact Amy Lavery (laverya@email.chop.edu; 267-425-2136) if you are interested!

AGS is known to be caused by misspellings of some of the genes in your cells. It is believed that these spelling errors began in your mom or dad’s cells and were inherited when you were born. We believe that the genetic misspellings cause DNA (the building blocks of genes) to be mismanaged in AGS, leading to a build-up of DNA within cells. The body reacts to these cells as if they are infected by a virus, attacking them with your immune system. We believe that this response is what causes the symptoms of AGS and that treatment with drugs that fight viruses might reduce your symptoms. This study will use medications commonly used to fight an HIV infection called Tenofovir (TDF)/ Emtricitabine (FTC). Even though you don’t have HIV, the medicine works in a way that we believe will help your disease. Mice with misspellings in the AGS genes have also been shown to build-up DNA in their cells and got better when treated with special medications used in patients who have an HIV infection. The study will last for 13 months and will require that you come to CHOP on a regular basis to receive either the study drugs (TDF/FTC) or placebo. We will also collect blood, urine, and cerebrospinal fluid from you. You will also be asked to complete MRIs, physical exams, interviews, and questionnaires.