Overall, this observational cohort study aims too:
1. Implement rapid trio WGS for all children presenting to our health systems with epilepsy onset under 12 months of age.
2. Utilize electronic
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The REVEAL Pediatric Study is a multi-center, Phase 1/2 open-label, dose-escalation and dose-expansion study of TSHA-102, an investigational gene therapy, in pediatric females with Rett Syndrome.
The
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Calcium Release Deficiency Syndrome (CRDS) is a novel inherited arrhythmia syndrome secondary to RyR2 loss-of-function that confers a risk of sudden cardiac death. Diagnosis of CRDS presently requires
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The investigators will be evaluating bone marrow composition via magnetic resonance imaging in adolescents diagnosed with cystic fibrosis (CF) compared to healthy, matched controls. The investigators
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A within-subjects design will be used for this preliminary investigation of four biomarkers across two contexts of use: prediction of treatment response (i.e., stratification) and quantification of
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The goal of this study is to test a web-based psychoeducational resource for adolescents with central disorders of hypersomnolence and their families. The investigators hope to assess the website's
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The goal of this research study is to learn whether investigators can successfully give the PediRISE program to families-in other words, whether most families are interested in participating in a
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The goal of this observational prospective study is to determine the health impact of parenthood on United States (US) people with CF in the era of CF transmembrane regulator protein (CFTR) modulators
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The purpose of this study is to evaluate the efficacy of SPK-8011 in preventing bleed episodes compared with FVIII prophylaxis in participants with hemophilia A without FVIII inhibitors on routine
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This is a prospective, randomized, controlled, non-inferiority study of patients undergoing tonsil surgeries at Boston Children's Hospital Waltham. The overall aim is to evaluate the efficacy of an
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This is a multicenter study that aims to determine whether the EEG and ET experiments studied in the ABC-CT Phase 1 and ABC-CT Confirmation studies can be successfully used with 3-5-year-old children
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In this research study, we want to learn more about the impact of two different local anesthetics (bupivacaine and lidocaine) on patient experience following orthognathic (jaw) surgery. Both
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Pediatric patients undergoing stem cell transplant (SCT) are hospitalized for extended periods and are at high risk for sleep disturbances. In order to begin to address the environmental issues that
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The goal of this observational study is to determine if a liquid biopsy (i.e. blood test) is an effective clinical tool for monitoring the development of malignant peripheral nerve sheath tumor (MPNST
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