Search Results within category "Children's Health"Search all categories
Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease (IPSG1)
Legg-Calvé-Perthes disease is a childhood hip disorder which is common enough to be a significant public health problem (affects 1 in 740 boys between ages 0—14), but uncommon enough to have a sufficient number of patients from a single institution to perform a definitive prospective study comparing the results of current treatments. The present study will establish a database of prospectively identified patients with Legg-Calvé-Perthes (LCP) Disease and collect information regarding their presentation, treatment, and outcomes in the course of receiving currently available treatments. This study seeks to compare the outcomes of current treatments in the management of different age groups (ages 1-6, 6—8, 8—11, >11) of patients with Perthes disease at two- and five-year followup and at skeletal maturity. For each age group, two to three common treatment regimens currently used by practicing pediatric orthopaedic surgeons will be compared. The intervention a patient receives is determined through physician preference. Physicians pick an intervention for each age group and treat each patient with the same intervention.
6 Years to 16 Years old
• Diagnosed with Legg-Calvé-Perthes disease
• Between age 1-18
• Patients with possible secondary femoral osteonecrosis if over the age of 11 due to trauma or corticosteroid therapy are also eligible.
• Patients with previous surgical treatment on the affected hip if not in the >11 age group
Procedure: osteotomy, Procedure: multiple epiphyseal drilling
Legg Calve Perthes Disease, Bones and Joints
femur head necrosis, hip, pediatric orthopedics, MRI, Osteonecrosis, Bone diseases, Legg Calve Perthes Syndrome
G551D Observational Study- Expanded to Additional Genotypes and Extended for Long Therm Follow up (GOAL-e2) (GOAL- e2)
The goal of this research study is to collect blood and urine samples from people who have either the R117H type of CF or the non-G551D gating type of CF to be kept for future research.We will also use some of the collected blood to measure the number of neutrophils.
6 Years and over
Inclusion Criteria for Core Study: 1. Male or female ≥ 6 years of age at Visit 1. : 2. Must have a clinical diagnosis of cystic fibrosis and the following CFTR mutations: 1. For Cohort 1 (Closed to enrollment June 30, 2012): G551D on at least 1 allele Any known or unknown mutations allowed on second allele. 2. For Cohort 2: R117H on at least 1 allele Any known or unknown mutation on the second allele except G551D 3. For Cohort 3: A Non-G551D gating mutation on one allele: (G178R, S549N, S549R, G551S,G970R, G1244E, S1251N, S1255P, G1349D) Any known or unknown mutation on the second allele except G551D OR R117H 3. Enrolled in the Cystic Fibrosis Foundation Patient Registry (with the exception of Canadian sites). (Patients may enroll in the Registry at Visit 1 if not previously enrolled.) 4. Clinically stable with no significant changes in health status within the 14 days prior to Visit 1. 5. Written informed consent (and assent when applicable) obtained from subject or subject's legal representative. Exclusion Criteria for Core Study 1. Participation in the VX-770-105, VX-770-106, VX-770-108, VX-770-110, VX-770-111, VX-770-112, or VX-770-113 study, VX-770 Extended Access Program or use of ivacaftor within 6 months prior to Visit 1. 2. Any upper or lower respiratory symptoms requiring treatment with oral, inhaled or IV antibiotics within the 2 weeks prior to Visit 1. 3. History of solid organ transplantation. 4. Presence of a condition or abnormality that in the opinion of the investigator would compromise the safety of the patient or the quality of the data.
Cystic Fibrosis, G551D, G551D Mutation
Healthy Sleep for Children With Down Syndrome (HELP-DS)
The purpose of this multi-center observational study (utilizing the sites enrolling patients for the Pediatric Adenotonsillectomy Trial for Snoring (PATS) [1U011HL125307-O1A1]) is to gather data regarding children with Down syndrome (DS) and Sleep Disordered Breathing (SDB) referred for treatment with adenotonsillectomy to inform a future randomized controlled trial in this population.
3 Years to 13 Years old
• DS diagnosis regardless of genetic status (e.g., mosaicism or translocation).
• Aged >3 to <13 years at the date of consent.
• Primary indication for AT is nocturnal obstructive symptoms (i.e., not recurrent infections or other indications).
• Deemed to be a candidate for AT by Ear, Nose and Throat (ENT) evaluation; that is, no technical issues that would be a contraindication for surgery such as submucous cleft palate.
• Prior tonsillectomy (partial or complete).
• Severe chronic health conditions that would contradict surgery (severe morbid obesity, unrepaired cyanotic congenital heart disease, bleeding disorders).
• Severe behavioral problems that would preclude participation in the study's testing procedures (PSG, actigraphy).
• Severe OSA with respiratory failure needing urgent/emergent management
• Plan to undergo additional airway surgery at the time of AT.
• Caregiver/child planning to move out of the area within 6 months.
• Caregiver/child does not speak English or Spanish well enough to complete the behavioral and performance measures.
• Child in foster care.
Down Syndrome, Sleep Disordered Breathing
Red Blood Cell Exchange Transfusion as a Novel Treatment for GLUT1 Deficiency Syndrome
This proposal is an investigator-initiated, single-site proof of concept trial. Five patients will undergo isovolemic hemodilution-red cell exchange (IHD- RBCx) with up to 10 units of red cell antigens (Rh group, Kell, Duffy, Kidd blood group antigens) matched normal donor red cells to replace a target of 70% of the patient's red cells with donor red cells. The procedure will be performed as an outpatient according to protocols established for sickle cell anemia patients. One of the investigators is an expert on RBCx and will oversee the transfusion. Subjects will be assessed before and after transfusion, and at two months post transfusion. Outcome measures include neurological exam, electroencephalography (EEG), neuropsychological testing, and biochemical assays.
16 Years to 64 Years old
Early Phase 1
• Male or Female
• Age 16 years to 64 years old.
• Diagnosed with genetically-confirmed glucose transporter type 1 disorder
• Patients not currently receiving dietary therapy, including ketogenic diet or other dietary therapy, due to failure of these diets to achieve seizure remission or due to patient preference, including compliance or tolerance issues. Patients currently on Modified Atkins Diet (MAD) and / or taking Medium Chain Triglyceride (MCT) oil are allowed.
• Currently on the ketogenic diet or taking triheptanoin (C7) oil
• No genetic confirmation of G1D diagnosis
• Unable to return for follow up visits
• Weak peripheral veins, such that IV placement is contraindicated (required for transfusion)
• Serious chronic medical conditions, such as congestive heart failure, renal failure, liver failure, or any other medical conditions that preclude large volume transfusions.
• Patients currently pregnant or breast-feeding are excluded from participating in this research. Patients who plan on getting pregnant during this research or who are unwilling to use birth control, including abstinence, during the course of this research are also excluded due to safety concerns for the fetus.
Other: Red Blood Cell Transfusion
Glucose Transporter Type 1 Deficiency Syndrome, GLUT1DS1, Brain and Nervous System, Other Hematopoietic
G1D, Glucose transporter
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science (DHREAMS)
The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of molecular pathogenesis and, ultimately, prevention or treatment of congenital diaphragmatic hernia. There are many different possible modes of inheritance for congenital anomalies, including autosomal dominant, autosomal recessive, and multifactorial. Multi-factorial inheritance is responsible for many common medical disorders, including hypertension, myocardial infarction, diabetes and cancer. This type of inheritance pattern appears to involve environmental factors as well as a combination of genetic variations that together can predispose to or produce congenital anomalies, such as congenital diaphragmatic hernia. Our study is designed to establish a small, well-defined genetic resource consisting of 1) Nuclear families suitable for linkage analysis by parametric,non-parametric (e.g. sib pairs, TDT) and association techniques, 2) Individuals with congenital diaphragmatic hernia who can be directly screened for allelic variation in candidate genes, and 3) Individuals who can serve as controls (are unaffected by congenital diaphragmatic hernia). Neonates and their families will be collected from homogenous and heterogeneous populations. By characterizing diverse populations, it should be possible to increase the likelihood of demonstration of genetic variation in selected candidate genes that can then be used in association and linkage studies in individual subjects with congenital diaphragmatic hernia.
• All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of a CDH
• Individuals with no personal history of a CDH or family history of a family member affected with congenital diaphragmatic hernia
Congenital Diaphragmatic Hernia
Congenital Diaphragmatic Hernia (CDH), Genes, Genetic, Genetic testing, exome sequencing, genome sequencing, RNAseq