In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth)...
Interstitial cystitis (IC), also called Bladder Pain syndrome (BPS), or chronic pelvic pain syndrome(CPPS) is a common condition with no known cause or cure. Twin studies and family accounts have...
The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are...
Chronic Prostatitis/Chronic Pelvic Pain Syndrome (CP/CPPS) is a condition with several causes of which some remain unknown. It is believed that some types of CP may be genetic or passed down ...
The Study is designed to collect information about adverse events that occur in children undergoing anesthesia in participating hospitals. Demographic information will be collected on all anesthetics....
The purpose of this study is to determine the radiographic and clinical outcomes of Scoliosis surgical and non-operative treatment in patients with Cerebral Palsy.
The purpose of the study is to collect phenotypic (observable characteristics) and genetic information about individuals with Autism Spectrum Disorders (ASDs) and their families.
Hutchinson-Gilford Progeria Syndrome (Progeria) is a rare autosomal disease that results in premature death at a median age of 13 years due to cardiovascular and cerebralvascular compromise. The...
The goal of the Preterm Lung Patient Registry is to collect data on individuals with neonatal lung disease to better understand the illness and ultimately improve their care and survival. The Patient...
This study is working towards gaining a better understanding of the genetic and environmental factors involved in autism spectrum disorders (ASD), which includes autism, pervasive developmental...
This study is a prospective evaluation of children with Severe Combined Immune Deficiency (SCID) who are treated under a variety of protocols used by participating institutions. In order to determine...
Congenital heart defects (CHD) are the most common major human birth malformation, affecting ~8 per 1,000 live births. CHD are associated with significant morbidity and mortality, and are second only...
The objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC...
Patients with relapsed medulloblastoma, ependymoma and ATRT have a very poor prognosis whether treated with conventional chemotherapy, high-dose chemotherapy with stem cell rescue, irradiation or...
The Wiskott-Aldrich Syndrome (WAS) is an inherited disorder that results in defects of the blood and bone marrow. It affects boys because the genetic mistake is carried on the X chromosome. Normal...
This study is being conducted to learn about the effects of SC-PEG, which is a new form of a chemotherapy drug called asparaginase. Asparaginase is used to treat ALL and lymphoblastic lymphoma. The...
Medical scientists want to find better ways to treat neuroblastoma and to find ways to prevent the tumor from growing back. To do this, they need more information about the characteristics of...
The mission of the SARP is to improve the understanding of severe asthma through integrated study of its clinical and biological features and to evaluate their changes over time. The ultimate goal of...
Dyskeratosis congenita is a disease that affects numerous parts of the body, most typically causing failure of the blood system. Lung disease, liver disease and cancer are other frequent causes of...
