The objectives of this study are to illustrate the clinical, neuro/electrophysiologic, biochemical, and developmental status and progression of patients with Creatine Transporter Deficiency (CTD) and...
This is a prospective, multicenter, open-label, randomized, controlled, parallel Phase 3 study with an open-label single-arm extension period to evaluate pharmacokinetics (PK), safety and efficacy of...
In proximal urea cycle disorders (UCD), particularly ornithine transcarbamylase deficiency (OTCD), hyperammonemia (HA) causes increased brain glutamine (Gln) which perturbation is thought to be at the...
This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of AGTC-402, administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations...
The primary aim of this study is to compare the propofol requirements of children who receive propofol with that of children who receive dexmedetomidine prior to propofol, for sedation for upper and...
PumpKIN is a multicenter, prospective, single-arm feasibility study; Evaluating the investigational Jarvik 2015 VAD in pediatric patients with heart failure. This feasibility trial will enroll 10...
This trial of pitavastatin will determine efficacy and safety in this high risk population and provide evidence for clinicians to target this treatable risk factor to achieve an impact on early...
The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 5 to 65 years under current clinical management practices
This clinical research study is being conducted by Spark Therapeutics, Inc. to determine the safety and efficacy of the factor VIII gene transfer treatment with SPK-8011 in individuals with hemophilia...
Post-traumatic headaches (PTH) are the most common complaint after traumatic brain injury, possibly generated by a number of stressors to the trigeminovascular and cervical plexus networks, including...
Gastrointestinal (GI) dysfunction affects up to 50% of medical and surgical critically ill children. GI dysfunction, specifically gastric dysmotility and loss of epithelial barrier integrity, is...
This is an open-label, follow-up study for subjects who completed the PEPITES study. Subjects will be offered enrollment in this follow-up study to receive Viaskin Peanut 250 μg for 2 additional years...
This study is a 12-month (52 week) safety extension study to supplement the FUEL Phase III clinical trial to provide safety information regarding the long-term use of udenafil in adolescents with...
Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children. The cancer comes from a cell in the blood called a lymphocyte. Normal lymphocytes are produced in the bone marrow ...
This is a multi-center prospective, single-arm, non-randomized, pivotal study that will continue to access the feasibility of the Xeltis Bioabsorbable Pulmonary Valved Conduit in subjects requiring...
This is a phase II, open label, multi-center, intra-patient dose escalation study to characterize the pharmacokinetics after oral administration of eltrombopag in combination with immunosuppressive...
Craniosynostosis (CS) is a common malformation occurring in ~4 per 10,000 live births in which the sutures between skull bones close too early, causing long-term problems with brain and skull growth....
It is difficult to assess pain and agitation in the NICU population because for a multitude of reasons including the pre-verbal nature of the patient population, the atypical pain response of...
The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and...
This is a Phase 2/3, open-label, multicenter study to evaluate the pharmacokinetics, efficacy,and safety of glecaprevir (GLE)/pibrentasvir (PIB) for 8, 12, or 16 weeks in Hepatitis C virus (HCV)...
