This clinical trial study uses a modified adeno-associated virus (AAV) to carry the human factor VIII gene to the liver. In the liver is where factor VIII protein is made. The study product, SPK-8011, is available only to participants in this research study. This product has not been approved yet for use in the general public. This will be the first hemophilia A gene transfer research study done in the United States. To learn more about the benefits and risks related to this study, please contact Dr. Lindsey George at (267) 425-0132. In order to participate in this study, you must be male, 18 years or older, have hemophilia A with FVIII activity levels less or equal to 2%, a history of bleeding that requires prophylaxis or on demand therapy, and no history of inhibitor to factor VIII. This study requires a number of visits over the course of 12 months. All costs related to participation in the study will either be covered or reimbursed by the Sponsor of the study, Spark Therapeutics, and participants will be compensated for their time.

The purpose of this study is to see if a new investigational drug (Upadacitinib) is safe and well tolerated and also to determine the appropriate dose for subjects with polyarticular course juvenile arthritis (pcJIA). The study is a two part study; in Part 1 subjects will be categorized based on age group, and the dose administered for seven consecutive days will be based on four different body weight categories. Subjects who complete Part 1 and are benefiting from study drug with no ongoing adverse events of special interest or serious adverse events, based on investigator's clinical judgment and with subject/family's agreement, will have the option to enroll in Part 2 to receive open-label upadacitinib. Participants will remain in part 2 for up to 156 weeks. Researchers will also be testing the pharmacokinetics (PK) of the study drug, which looks at how the body processes a drug by measuring how quickly the drug is absorbed by the body, how quickly it is broken down by the body, and how long it remains in the body. Subjects will be asked to come into the Rheumatology clinic for blood and urine testing, a joint exam, and administration of study drug.

Patients with who have had Fontan surgery are at risk for the development of liver fibrosis and cirrhosis. New MRI based imaging techniques allow for non-invasive assessment of liver stiffness and fibrosis. These methods have been used in other diseases, but have not been studied in those who have undergone the Fontan operation. In this study we will test the feasibility of MRI based methods for the assessment of liver disease, and compare the results of these studies to those obtained from clinical liver biopsy.

To identify the underlying causes of bone marrow failure diseases for the purpose of developing and modifying treatment and diagnosis procedures.

This study is a trial comparing the effects of erenumab to placebo in children ages 6-17 years old with migraine 15 days per month or more. Eligible participants will be given either erenumab or placebo, assigned randomly (like the flip of a coin), followed by an open-label phase in which all participants receive erenumab. Erenumab has been FDA-approved for use in adults to decrease the frequency of migraine. Patients may be eligible to participate if they have had migraine for at least one year, and agree to come to CHOP's main hospital for several study visits. Patients whose headache started suddenly (New Daily Persistent Headache), patients whose headache started after a concussion (Post-Traumatic Headache), and patients with severe depression are not eligible for this study.

The purpose of this research study is to collect information over time in juvenile SpA and back pain patients. The information from this study will be used to better understand these conditions in children as well as improve treatment guidelines. The procedures include questionnaires, medical record review, and optional biospecimen contributions (blood).

The goal of the study extension is to see whether the incretin hormone GIP increases insulin secretion in individuals with CF and normal glucose tolerance compared to individuals without CF and normal glucose tolerance. This study includes 3 or 4 visits.

This study involves the collection of medical information and samples from people with a confirmed or suspected leukodystrophy or related disorder affecting the white matter of the brain, as well as "healthy controls" who are not known to be affected by one of these disorders. The goal of the study is to advance our understanding of the cause of these disorders, the best tools to diagnosis them, and the best way to manage and treat them. Participation may involve collection of biological samples (e.g., blood, saliva, etc.), collection of medical information (e.g., medical records, genetic test results, radiology images, etc.), participation in functional assessments performed by physical and/or occupational therapists, and/or participation in interviews or electronic surveys. Participation may also include research-based genetic testing, or other laboratory tests that look at the presence of molecules, enzymes, etc. thought to be associated with a specific diagnosis. 

This study looks to assess how celiac disease affects the quality of life of patients between the ages of 13-18. We are looking to recruit 100 patients who are in their first year of diagnosis and their parents. If the above criteria apply to you, you may be eligible to take part in the study.

Phase 1 open-label study to estimate the safety, manufacturing feasibility, and efficacy of intravenously administered, lentivirally transduced T cells expressing anti-CD123 in pediatric subjects with relapsed/refractory Acute Myeloid Leukemia (AML). Main study procedures include medical record review, apheresis, CART123 infusion, blood draws, physical exams, imaging, and disease assessments through bone marrows and lumbar punctures. If interested in the study or if you have any questions, please contact 267-426-0762.