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A single visit study with muscle and/or skin biopsy / blood draw, performed to determine whether a molecular or cellular defect can be attributed to cells of Fascioscapulohumeral Muscular Dystrophy (FSHD) muscle. This study is recruiting both individuals with genetically confirmed FSHD as well as unaffected healthy (control) individuals.

This study is about a genetic condition called Adrenoleukodystrophy (ALD). The first goal of this study is to understand more about how ALD affects a child’s brain and development in childhood as they take part in medical care and monitoring. This is important to identify the optimal ways to detect and treat manifestations of ALD such as cerebral ALD. The second goal is to learn about how ALD affects caregivers, so that clinicians can offer better support to families in the future. We will also have healthy comparisons to help to learn more about the condition (ALD) being studied, by comparing the information collected to a child without the condition.

This is a treatment protocol for an unrelated umbilical cord blood transplant (UCBT) using a myeloablative preparative regimen for the treatment of hematological diseases, including, but not limited to acute leukemias. There is no research element except the collection of routine clinical data.

The aim of our study is to look at blood flow in various tumors and irregularities located in blood vessels using a handheld continuous wave doppler. Correct and efficient diagnosis of vascular anomalies (outside of what is expected to happen in blood vessels) in pediatric patients will help determine a treatment plan. Blood flow in vascular anomalies has not been well described in the past.

The purpose of the research is to find out if atrasentan delays worsening of kidney function in IgAN, FSGS, and Alport Syndrome.

The purpose of this study to learn more about Limb Girdle Muscular Dystrophy by measuring how muscles change over a twelve-month period. Our clinical evaluator will test muscle strength and participants will be asked to complete a series of questionnaires to find out how Limb Girdle impacts daily activities. This information will help plan future studies and drug development for people with LGMD.

REM sleep behavior disorder may predict the eventual symptom development of Parkinson’s disease, dementia with Lewy bodies, or multiple system atrophy. This occurs over years to decades and the sleep disorder may hide other typical symptoms and result in a delay in diagnosis. We are studying the changes in the brain over two years. We will do high field MRI’s (7T) and other tests of neurological function of people who have REM sleep disorder and people who don’t have this disorder (matched for age and sex).

The goal of this proposal is to develop fully automated, high performance, motion-corrected MRS sequences for the brain and spinal cord, that are also easy to share (no additional external hardware needed) with other institutions and easy to use.

This study is being sponsored by the National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC). We want to learn more about improving the treatment and outcomes for patients who have a diagnosis of a single ventricle, such as Hypoplastic Left Heart Syndrome (HLHS) or similar heart defects.

This is a study enrolling patients receiving care for early psychosis across the United States. Participants will be randomly assigned to one of two groups. The first group will use two mobile apps, computerized brain training and a motivational smart phone app, for a period of 12 weeks. The other group will participate in their regular clinical care. There will be 4 study timepoints: intake, post-training, 6-month follow up, and 12-month follow up. There is also an optional interview about experiences of loneliness.

This research is being done to help us better understand the different DNA repair disorders. We will collect data and samples that we will use to develop new therapies and medicine to help treat the disease. We expect that participants will be in this research study for 3 years. Visits will occur every six months and alternate between in-person and remote. Remote visits should be expected to last 1-2 hours, and in-person visits should be expected to last 3-4 hours.

In the first phase of the study, participants will be asked to complete two sets of appointments six months apart. During both sets of appointments, participants will be asked to complete interviews and questionnaires about their life experiences and mental health, and they will have an EEG and fMRI while completing computerized tasks. The second phase of the study is optional. In this phase, participants will test one of two forms of computerized cognitive training, or brain games. They will be asked to complete 10 hours of training over a 3-6 week period. After the training period is over, they will have two sets of follow up visits, one right after the training period and one five months later. At these appointments, participants will complete the same activities done in the first phase of this study, including the interviews, questionnaires, and imaging (fMRI and EEG) combined with computerized tasks. We are recruiting two groups of participants for this study. One group will include individuals who experience hallucinations, delusions, paranoia, or a psychosis disorder (i.e., schizophrenia), and the other group will be individuals who do not have a diagnosis or family history of schizophrenia, bipolar disorder, or autism spectrum disorder.

Risk for suicidal behavior in young people may include particular types of brain functions. The goal of this research is to learn more about the biology of the brain as it relates to suicidal thoughts and behaviors.

The effect of enzyme replacement therapy on how well your kidneys are responding to enzyme replacement therapy (ERT) is not clear from blood and urine tests alone, but may be more clear in comparisons of kidney biopsies performed before and some time after ERT has been initiated, and this is what we are focusing our study efforts on. The purpose of this study is to obtain your permission to allow us to study the kidney biopsy tissues (collected for medical reasons) after the regular routine studies have been completed. Through our special research measurements and additional study, we hope to be able to see and measure very specific changes in the kidney tissues from Fabry patients taking ERT. We also hope that through these studies of what happens within the kidney before and after starting ERT, we are able to reveal valuable information about the importance of factors like your age that you started ERT, the amount or dosage of ERT, and any differences seen between males and females.

This research study is for participants who have an inherited neuromuscular disorder or neurogenetic disorder, or family members who are unaffected by such disorders

This is a multi-center, prospective, observational cohort registry study looking at kids and their relatives with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).

The objective is to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with acute and cutaneous porphyria.

The purpose of this research project is to develop a registry and database of families with neurodevelopmental disorders.

The Syner-G regimen research study seeks to evaluate the use of a combination of a medication called miglustat and a ketogenic diet for treatment of the gangliosidoses to learn if this combination will provide improved clinical outcomes compared to what we currently know about the natural course of the disease.

This is a research study documenting the natural history of disease in patients with GM1 or GM2 gangliosidosis. The information collected will be a way to evaluate disease progression and create a disease stage and severity index. Our goal is to use the data collected to measure the effectiveness of any treatments that are developed in the future.

The primary purpose of this study is to record outcomes and patient characteristics in the Cancer Center’s and BMT databases for patients who are undergoing an allogeneic (donor) hematopoietic stem cell transplant. The data will be analyzed for transplant “milestones” such as time to blood count recovery (engraftment) and how patients are doing at 3 months and 6 months after the transplant. Participation in this study will not alter treatment or medical care. All information for this study will be collected from medical records.

This research is being done to determine whether the investigational drug tabelecleucel (allogeneic Epstein-Barr virus-specific cytotoxic T lymphocytes [EBV-CTLs]) can help people with EBV-associated diseases.

To evaluate the addition of two cycles of blinatumomab for all infants with newly diagnosed ALL and will evaluate in a randomized manner the safety, tolerability, and early activity of venetoclax in infants with KMT2A-R ALL.

This research trial studies the Project: Every Child for younger patients with cancer. Gathering health information over time from younger patients with cancer may help doctors find better methods of treatment and on-going care.

A Phase I/II trial of single agent intravenous CBL0137 in pediatric patients (≥ 12 months and ≤ 30 years) with relapsed/refractory solid tumors, including CNS tumors and lymphoma.

The purpose of CureGN3 is to gather a group of people with glomerular disease to create a source of information and blood and urine samples, so that researchers can easily and effectively study glomerular disease.

Primary Aims 1. To estimate the maximum tolerated dose (MTD) and/or recommended Phase 2 dose (RP2D) of DT2216 in combination with intravenous irinotecan in patients with recurrent/refractory solid tumors. 2. To define and describe the toxicities of DT2216 in combination with irinotecan administered on this schedule in patients with recurrent/refractory solid tumors and patients with fibrolamellar carcinoma (FLC). 3. To characterize the pharmacokinetics of DT2216 in combination with irinotecan in patients with recurrent/refractory solid tumors and patients with fibrolamellar carcinoma (FLC). 4. To preliminarily define antitumor activity of DT2216 in combination with irinotecan in patients with recurrent/refractory solid tumors (within the confines of a Phase 1 study) and in patients with recurrent/refractory FLC.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disease which causes cysts to form in the kidneys. Over time as the cysts grow, the kidneys are not able to function the way they should, and may eventually lead to kidney failure. Certain people have a higher risk of developing ADPKD due to their genetic makeup. This study seeks to understand how often different types of PKD1/2 variations occur and the symptoms of ADPKD that people with PKD1/2 variants have. No study drug or devices will be administered.

This study will look at the effects of treatment combining Comprehensive Behavioral Intervention for Tics (CBIT) and Transcranial Magnetic Stimulation (TMS) for young people who have tic disorder. Participants must be 12- 21 years old and able to have an MRI. All participants will receive 10 daily sessions of CBIT, a well-established behavioral treatment that is considered to be the first treatment for tics. Participants will also be assigned randomly (by chance) to receive TMS or a sham (treatment not delivered) just before each CBIT session. The device for TMS delivers electromagnetic stimulation to a specific area of the brain with a small coil on the scalp. The effectiveness of the CBIT for the two groups, with and without the TMS, will be compared.

The primary purpose of this study is to record outcomes and patient characteristics in the Masonic Cancer Center and BMT databases for patients undergoing a second transplant using a haploidentical donor, an unrelated donor or umbilical cord blood. The data will be analyzed for transplant “milestones” such as time to blood count recovery (engraftment) and how patients are doing at 3 months and 6 months after the transplant. Participation in this study will not alter treatment or medical care. All information for this study will be collected from medical records.