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 project is a data and specimen repository for developmental disorders. Participants provide biological samples and permission to store their health-related data. The purpose is collect and manage these materials for use in biomedical research related to developmental disorders.

We are looking at a new intravenous drug, Bacteriophage, to treat Pseudomonas Aeruginosa in people at least 18 years of age who have cystic fibrosis. The drug is given one time and different doses will be evaluated to see if they work and to look at side effects.

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 study aims to learn more about the causes of Systemic Juvenile Idiopathic Arthritis (sJIA) including its complications such as Macrophage Activation Syndrome (MAS) and sJIA associated lung disease and identify new therapeutic targets. The study is asking for biological samples from those diagnosed with sJIA as well as their family members.

There are currently two main ways of measuring nutrition in the Cystic Fibrosis (CF) population: body mass index (BMI) and laboratory values. This study plans to look at more ways to measure nutrition, and body composition, like the percentages of fat, bone and muscle in your body. One of the ways we will measure these items is by using dual energy X-ray absorptiometry (DXA) scan, which is a type of x-ray. This study hopes to provide researchers with more detailed information about nutrition and body composition in adults with CF.

This study will use BBP-418 study drug in patients with LGMD to assess the clinical biomarkers, efficacy and safety of BBP-418 during the 36 months treatment phase.

This study is looking at glucose (blood sugar) patterns in participants with Turner Syndrome between the ages of 3-80 years old. This will be done by obtaining 2 hours frequent blood sampling by completing an Oral Glucose Tolerance Test and a Mixed Meal Tolerance Test. Participants will also wear a continuous glucose monitor for 2 weeks. Along with the OGTT and MMTT, participants are asked to provide a blood sample for DNA and RNA testing. Participant’s parents are asked to provide a saliva sample for DNA testing

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.

This is an observational study intended to generate preliminary data to understand how lysosomal dysfunction can affect the biogenesis of extracellular vesicles, its content and function. The study entails 2 visits over a 3-month period. On enrollment, participants will be scheduled for the 2 visits, during which fasting blood samples will be collected.

The purpose of CureGN2 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.

We are doing the RARE study to learn more about Cystic Fibrosis (CF). CF is caused by mutations in a gene that produces a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). In people with CF, the CFTR does not function correctly. Medications are being developed to help the CFTR function better, but those medications mostly benefit people with common CFTR mutations. There are more than 1,900 mutations of the CF gene. Some of these mutations are rare and found only in a few people. The goal of this research study is to collect specimens (blood, nasal cells, rectal cells) from people with rare CFTR mutations. Another purpose of this study is to create induced pluripotent stem cells or iPS cells. “Pluripotent” stem cells are cells that can be changed into almost any cell type of the body (such as lung or intestine). They can be kept alive and stored indefinitely. There are different kinds of pluripotent stem cells. Inducted pluripotent stem cells can be created from many different kinds of specimens (such as blood, nasal cells, rectal cells). This is different from embryonic stem cells, which can only be derived from embryos. The specimens collected during this study and iPS cells created from them will be stored for use in future research to learn more about CF and study the effect of new medications. This could identify new medications that may help people with rare CFTR mutations.

This study is enrolling participants who have been diagnosed with juvenile spondyloarthritis, are taking a tumor necrosis factor inhibitor (TNFi) and have reached a clinically inactive disease state for a minimum of six months. Researchers want to know if children who have maintained inactive disease for at least 6 months can maintain quiet disease without taking their medication as frequently or stop the TNFi therapy. Quiet disease means that disease related symptoms are not active or being experienced in the patient. Researchers also want to know the safest method to bring patients off medication. If a flare does occur during therapy reduction, researchers want to find out whether they can predict when a flare is most likely to happen, and how quickly an inactive disease state can be recaptured.

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.

The purpose of this study is to measure levels of blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with Type 1 Gaucher disease (GD1) to see if these levels are altered by GD1. We will also examine if there is a change in these blood and brain chemicals after participants begin taking oral N-acetylcysteine (NAC), which is available both as a prescription medication and a natural product that has antioxidant and anti-inflammatory effects.

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 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 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 purpose of the trial is to evaluate the effect and safety of imlifidase when given to participants with antiGBM disease (also called Goodpasture disease). We will study if the addition of imlifidase to the standard of care treatment results in a better effect without causing unacceptable side effects compared to standard of care alone.

Skytrofa is approved in the U.S. for sale and use in children with growth hormone deficiency (GHD). This study is being done to find out how safe and useful Skytrofa is for long-term treatment. A child’s care will follow the normal treatment practices at the clinic. There is no new treatment or medicine involved and no additional visits will be performed.

PR001A is designed to deliver a normal GBA1 gene copy into the body to increase the activity of GCase, which is low in Type 2 Gaucher Disease (GD2) patients. The new GBA1 gene will remain a child’s body cells for many years and possibly for the rest of their life. A participant will need one surgery during which the study drug will be given and will stay in the hospital for at least 48 hours following the surgery.

This study is looking at whether giving a new type of experimental medicine, called JSP191, can prepare the body to help the stem cell transplant work better, so the immune system can grow and fight infections. The study doctor and Sponsor also want to see how safe and well tolerated this experimental medicine is. They will study whether it is safe to give to patients and look at how much medication to give and what side effects may occur. During this study, the optimal dose of JSP191 will be determined and additional patients will be enrolled in this study using that dose level.

The purpose of this study is to evaluate the long-term safety and effectiveness of Skytrofa treatment in children growth hormone deficiency. Patient care will follow the normal treatment practices at the clinic. No additional visits will be performed beyond the usual clinical practice.

The purpose of this study is to establish a registry and biobank to study monoclonal gammopathy and amyloidosis. We aim to understand better the changes these diseases cause, the symptoms they present, and the clinical progression to be able to better prevent them and treat them in the future.

This is a long-term registry is designed to collect data on hypophosphatasia (HPP) to better understand the condition and learn more about the disease, how patients feel about living with HPP and effect of HPP on the patients wellbeing and health. The study will look at participant’s medical records and health questionnaires about the health status of patients. This study collects observational data from clinical care and does not involve any treatment for HPP or administration of medication for HPP.

This study is being done to look at how pregnancy affects the health of women with cystic fibrosis (CF) and to look at the health of babies born to women with CF. It is expected that most but not all women will be taking the newest CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) modulator medication called TRIKAFTA®. It is not known how this medication will affect the health of mother and infant.