165 matching studies

Sponsor Condition of Interest
Imatinib Mesylate and Combination Chemotherapy in Treating Patients With Newly Diagnosed Philadelphia...
Children's Oncology Group B Acute Lymphoblastic Leukemia BCR-ABL1 Fusion Protein Expression Minimal Residual Disease Philadelphia Chromosome Positive T Acute Lymphoblastic Leukemia
This randomized phase III trial studies how well imatinib mesylate and combination chemotherapy work in treating patients with newly diagnosed Philadelphia chromosome positive acute lymphoblastic leukemia. Imatinib mesylate may stop the growth of cancer cells by blocking some... expand

This randomized phase III trial studies how well imatinib mesylate and combination chemotherapy work in treating patients with newly diagnosed Philadelphia chromosome positive acute lymphoblastic leukemia. Imatinib mesylate may stop the growth of cancer cells by blocking some of the enzymes needed for cell growth. Drugs used in chemotherapy, work in different ways to stop the growth of cancer cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. Giving imatinib mesylate and combination chemotherapy may work better in treating patients with Philadelphia chromosome positive acute lymphoblastic leukemia.

Type: Interventional

Start Date: Jul 2017

open study

Abatacept for GVHD Prophylaxis After Hematopoietic Stem Cell Transplantation for Pediatric Sickle Cell...
Monica Bhatia Sickle Cell Disease Graft Versus Host Disease
To assess the tolerability of the costimulation blocking agent abatacept (CTLA4-Ig) when added to the standard graft versus host disease (GVHD) prophylaxis regimen of a calcineurin inhibitor and methotrexate in patients receiving early alemtuzumab followed by fludarabine, thiotepa,... expand

To assess the tolerability of the costimulation blocking agent abatacept (CTLA4-Ig) when added to the standard graft versus host disease (GVHD) prophylaxis regimen of a calcineurin inhibitor and methotrexate in patients receiving early alemtuzumab followed by fludarabine, thiotepa, melphalan, and alemtuzumab for conditioning.

Type: Interventional

Start Date: Jul 2016

open study

Evaluation of Fontan-Associated Liver Disease
Mezzion Pharma Co. Ltd Single Ventricle Heart Disease
A study to evaluate the efficacy of MZ101 therapy in reducing liver stiffness. expand

A study to evaluate the efficacy of MZ101 therapy in reducing liver stiffness.

Type: Observational

Start Date: Feb 2018

open study

The Treatment of Progressive Early Onset Spinal Deformities: A Multi-Center Outcome Study
Growing Spine Study Group Early Onset Scoliosis Congenital Spinal Deformities Infantile Idiopathic Scoliosis Neuromuscular Spinal Deformity Syndromic Spinal Deformity
The purpose of this study is to examine the treatment, both surgical and non-surgical, of patients with any form of early onset scoliosis. Such treatment may include the use of growth friendly devices that are surgically or magnetically lengthened; or the use of serial body casting... expand

The purpose of this study is to examine the treatment, both surgical and non-surgical, of patients with any form of early onset scoliosis. Such treatment may include the use of growth friendly devices that are surgically or magnetically lengthened; or the use of serial body casting or bracing, or observation. Outcomes examined will be what can be seen physically on the patient and on x-ray, as well as parent perception of how the treatment effects their child with the use of a health-related quality of life (HRQOL) questionnaire.

Type: Observational [Patient Registry]

Start Date: Oct 2008

open study

Treatment of Impulsive Aggression (IA) in Adolescent With ADHD in Conjunction With Standard ADHD Treatment
Supernus Pharmaceuticals, Inc. Attention Deficit Hyperactivity Disorder
The purpose of this study is to evaluate the effect of SPN-810 for the treatment of impulsive aggression (IA) in adolescents diagnosed with ADHD when taken in conjunction with standard ADHD treatment. expand

The purpose of this study is to evaluate the effect of SPN-810 for the treatment of impulsive aggression (IA) in adolescents diagnosed with ADHD when taken in conjunction with standard ADHD treatment.

Type: Interventional

Start Date: Jul 2018

open study

Measuring Analgesic Interventions
Julia Finkel Pain
It is generally recognized that pain assessment and management especially in newborns, children and other nonverbal populations is an unmet need. According to the American Medical Association, "the pediatric population is at risk of inadequate pain management, with age-related... expand

It is generally recognized that pain assessment and management especially in newborns, children and other nonverbal populations is an unmet need. According to the American Medical Association, "the pediatric population is at risk of inadequate pain management, with age-related factors affecting pain management in children. Children are often given minimal or no analgesia for procedures that would routinely be treated aggressively in adults. Although much is now known about pain management in children, it has not been widely or effectively translated into routine clinical practice". These two factors combine to emphasize the necessity for an objective tool to quantify pain and monitor the effectiveness of analgesia, especially during treatments. Further, it is reported that many patients require a combination of treatments, and it is often necessary to test a variety of treatments before the personal match for treatment is found. The method in place to change the care on a subjective basis is difficult, time consuming, and not easily individualized. This pilot study is part of an ongoing effort to develop a method to objectively assess response to specific analgesic interventions. It specifically aims to discern the impact of analgesic interventions on sensory nerve fiber sensitivity in a diverse patient population.

Type: Observational

Start Date: Oct 2018

open study

Objective Assessment of Sensory Nerve Fiber Sensitivity
Julia Finkel Nerve Pain
This pilot study utilizes a unique technology to determine nerve fiber sensitivity. This will allow us to determine whether this method and device can discern changes in pain intensity and type, which is predicated on differing nerve fiber sensitivities. expand

This pilot study utilizes a unique technology to determine nerve fiber sensitivity. This will allow us to determine whether this method and device can discern changes in pain intensity and type, which is predicated on differing nerve fiber sensitivities.

Type: Observational

Start Date: Jun 2018

open study

Remodulin as Add-on Therapy for the Treatment of Persistent Pulmonary Hypertension of the Newborn
United Therapeutics Persistent Pulmonary Hypertension of the Newborn
This pilot study aims to assess the safety and treatment effect of acute dosing with IV Remodulin in neonates with persistent pulmonary hypertension of the newborn (PPHN). expand

This pilot study aims to assess the safety and treatment effect of acute dosing with IV Remodulin in neonates with persistent pulmonary hypertension of the newborn (PPHN).

Type: Interventional

Start Date: May 2015

open study

Orphan Europe Carbaglu® Surveillance Protocol
Nicholas Ah Mew N-acetylglutamate Synthase (NAGS) Deficiency
The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information. Carglumic acid was approved by the United States Food and Drug Administration (FDA) for treatment of acute hyperammonemia due to N-acetylglutamate... expand

The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information. Carglumic acid was approved by the United States Food and Drug Administration (FDA) for treatment of acute hyperammonemia due to N-acetylglutamate synthase (NAGS) deficiency. Much of the FDA-required data is already collected through the Longitudinal Study of Urea Cycle Disorders (RDCRN Protocol #5101). This study will collect additional data on adverse events (interim events), adverse reactions, pregnancy, and fetal outcomes.

Type: Observational [Patient Registry]

Start Date: Apr 2012

open study

PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
BioMarin Pharmaceutical Phenylketonuria Hyperphenylalaninaemia
The objective of this study is to evaluate the safety of long-term treatment with Kuvan. expand

The objective of this study is to evaluate the safety of long-term treatment with Kuvan.

Type: Observational

Start Date: Sep 2008

open study

Palbociclib in Combination With Chemotherapy in Treating Children With Relapsed Acute Lymphoblastic Leukemia...
Children's Oncology Group Leukemia, Lymphocytic Lymphoblastic Lymphoma T-cell Lymphoma T-cell Leukemia Recurrent Disease
AINV18P1 is a Phase 1 study where palbociclib will be administrated in combination with a standard re-induction platform in pediatric relapsed Acute Lymphoblastic Leukemia (ALL) and lymphoblastic lymphoma (LL). LL patients are included because the patient population is rare and... expand

AINV18P1 is a Phase 1 study where palbociclib will be administrated in combination with a standard re-induction platform in pediatric relapsed Acute Lymphoblastic Leukemia (ALL) and lymphoblastic lymphoma (LL). LL patients are included because the patient population is rare and these patients are most commonly treated with ALL regimens. The proposed starting dose for this study will be 50 mg/m^2/day for 21 days.

Type: Interventional

Start Date: Apr 2019

open study

Carnitine, Aclycarnitine, Myocardial Function, and CRRT
Asha Moudgil Acute Renal Failure
Carnitine is essential for the transport of fatty acids into the mitochondria and energy production in different muscles, including the myocardium. It is also needed to protect myocyte cell membranes from oxidative damage by removing excess acyl carnitine groups. Patients receiving... expand

Carnitine is essential for the transport of fatty acids into the mitochondria and energy production in different muscles, including the myocardium. It is also needed to protect myocyte cell membranes from oxidative damage by removing excess acyl carnitine groups. Patients receiving chronic intermittent hemodialysis (HD) are known to be at increased risk for carnitine deficiency as a result of its removal during the dialysis procedure, lack of endogenous synthesis by the kidney, and inadequate dietary intake. The carnitine status of children undergoing continuous renal replacement therapy (CRRT) has not been studied. Children undergoing CRRT in the intensive care unit (ICU) setting may be at increased risk for carnitine deficiency due to its continuous removal, lack of carnitine production by the kidney, and absence of carnitine intake (as majority of these children can not eat and there is no carnitine added to total parenteral nutrition (TPN). Carnitine deficiency may increase the risk of cardiac dysfunction in critically ill children. This is the first study to examine carnitine status in children undergoing CRRT. Standard echo as well as more sensitive speckle tracking echo will be used to evaluate the effect of carnitine deficiency on myocardial function.

Type: Observational

Start Date: Dec 2014

open study

Digital Dysmorphology Project
Kevin Cleary Down Syndrome
In this study, the investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD). After validating the method, this technology will be expanded to perform similar functions to assist in the... expand

In this study, the investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD). After validating the method, this technology will be expanded to perform similar functions to assist in the detection of other dysmorphic syndromes. By using photography and image analysis this automated assessment tool would have the potential to improve the diagnosis rate and allow for remote, non-invasive diagnostic evaluation for dysmorphologists in a timely manner.

Type: Interventional

Start Date: Feb 2013

open study

Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors
St. Jude Children's Research Hospital Malignant Rhabdoid Tumor Atypical Teratoid Rhabdoid Tumor
This study incorporates alisertib, the small-molecule inhibitor of Aurora A activity, in the treatment of patients younger than 22 years of age. Patients with recurrent or refractory AT/RT or MRT will receive alisertib as a single agent. Patients with newly diagnosed AT/RT will... expand

This study incorporates alisertib, the small-molecule inhibitor of Aurora A activity, in the treatment of patients younger than 22 years of age. Patients with recurrent or refractory AT/RT or MRT will receive alisertib as a single agent. Patients with newly diagnosed AT/RT will receive alisertib as part of age- and risk-adapted chemotherapy. Radiation therapy will be given to children ≥12 months of age. Patients with AT/RT and concurrent extra-CNS MRT are eligible. Alisertib will be administered as a single agent on days 1-7 of each 21-day cycle in all recurrent patients enrolled on Stratum A. For the patients on the newly diagnosed strata (B, C or D), alisertib will be administered in sequence with chemotherapy and radiotherapy. This study has 3 primary strata: (A) children with recurrent/progressive AT/RT or extra-CNS MRT, (B) children < 36 months-old with newly diagnosed AT/RT, (C) children > 36 months old with newly diagnosed AT/RT. Children with concurrent MRT will be treated according to age and risk stratification schemes outlined for strata B and C and will have additional treatment for local control. Children with synchronous AT/RT will be treated with age and CNS risk-appropriate therapy, and also receive surgery and/or radiation therapy for local control of the non-CNS tumor. PRIMARY OBJECTIVES - To estimate the sustained objective response rate and disease stabilization in pediatric patients with recurrent or progressive AT/RT (atypical teratoid rhabdoid tumor in the CNS) (Stratum A1) treated with alisertib and to determine if the response is sufficient to merit continued investigation of alisertib in this population. - To estimate the sustained objective response rate and disease stabilization in pediatric patients with recurrent or progressive extra-CNS MRT (malignant rhabdoid tumor outside the CNS) (Stratum A2) treated with alisertib and to determine if the response is sufficient to merit continued investigation of alisertib in this population. - To estimate the 3-year PFS rate of patients with newly diagnosed AT/RT who are younger than 36 months of age at diagnosis with no metastatic disease (Stratum B1) treated with alisertib in sequence with induction and consolidation chemotherapy and radiation therapy (depending on age) and to determine if the rates are sufficient to merit continued investigation of alisertib in this population. - To estimate the 1-year PFS rate of patients with newly diagnosed AT/RT who are younger than 36 months of age at diagnosis, with metastatic disease (Stratum B2) treated with alisertib in sequence with induction and consolidation chemotherapy and to determine if the rates are sufficient to merit continued investigation of alisertib in this population. - To estimate the 3-year PFS rate of patients with newly diagnosed AT/RT who are 3 years of age or greater at diagnosis with no metastatic disease and gross total resection or near total resection (Stratum C1) treated with alisertib in sequence with radiation therapy and consolidation chemotherapy and to determine if the rates are sufficient to merit continued investigation of alisertib in this population. - To estimate the 1-year PFS rate of patients with newly diagnosed AT/RT who are 3 years of age or greater at diagnosis with metastatic or residual disease (Stratum C2) treated with alisertib in sequence with radiation therapy and consolidation chemotherapy and to determine if the rates are sufficient to merit continued investigation of alisertib in this population. - To characterize the pharmacokinetics and pharmacodynamics of alisertib in pediatric patients and to relate drug disposition to toxicity. SECONDARY OBJECTIVES - To estimate the duration of objective response and PFS in patients with recurrent/progressive AT/RT and MRT (Strata A1 and A2). - To estimate PFS and OS distributions in patients with newly diagnosed AT/RT (Strata B1, B2, B3, C1 and C2). - To describe toxicities experienced by patients treated on this trial, specifically any toxicities of alisertib when administered as a single agent or in combination with other therapy over multiple courses and toxicities related to proton or photon radiation therapy. - To describe the patterns of local and distant failure in newly diagnosed patients (Strata B1, B2, B3, C1 and C2). Local control relative to primary-site radiation therapy, with criteria for infield, marginal, or distant failure will also be reported descriptively.

Type: Interventional

Start Date: May 2014

open study

A Extension Study of Udenafil in Adolescents
Mezzion Pharma Co. Ltd Functional Single Ventricle Heart Disease
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 single ventricle congenital heart disease. expand

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 single ventricle congenital heart disease.

Type: Interventional

Start Date: Jan 2017

open study

Stem Cells in NF1 Patients With Tumors of the Central Nervous System
Children's Research Institute Neurofibromatosis Type 1 Tumors of the Central Nervous System
Objectives 1. Establish an induced pluripotent stem cell (iPSC) bank for phenotypically well-characterized patients with NF1. 2. Develop isogenic NF1 wild-type (NF1+/+), NF1 heterozygous (NF1+/-) and NF1 homozygous (NF1-/-) iPSC lines from individual patients using CRISPR/CAS9... expand

Objectives 1. Establish an induced pluripotent stem cell (iPSC) bank for phenotypically well-characterized patients with NF1. 2. Develop isogenic NF1 wild-type (NF1+/+), NF1 heterozygous (NF1+/-) and NF1 homozygous (NF1-/-) iPSC lines from individual patients using CRISPR/CAS9 technology. 3. Differentiate and characterize disease-relevant brain cells such as excitatory and inhibitory neurons, astrocytes and oligodendrocytes from patient-specific iPSC lines. 4. Screen and identify the drug(s) that can reverse or alleviate the disease phenotypes.

Type: Observational

Start Date: Nov 2015

open study

T-Lymphocytes for Prevention or Treatment of Viral Infections Following Hematopoietic Stem Cell Transplantation
Children's Research Institute Viral Infections Bone Marrow Transplant Infection
This Phase I dose-escalation trial is designed to evaluate the safety of rapidly generated multivirus-specific T-cell products with antiviral activity against CMV, EBV, adenovirus, HHV6, BK virus, JC virus, and human parainfluenza-3 (HPIV3), derived from eligible HSCT donors.... expand

This Phase I dose-escalation trial is designed to evaluate the safety of rapidly generated multivirus-specific T-cell products with antiviral activity against CMV, EBV, adenovirus, HHV6, BK virus, JC virus, and human parainfluenza-3 (HPIV3), derived from eligible HSCT donors. In this trial, the investigators will utilize a rapid generation protocol for broad spectrum multivirus-specific T cells for infusion to recipients of allogeneic hematopoietic stem cell transplant (HSCT), who are at risk of developing EBV, CMV, adenovirus, HHV6, BKV and/or HPIV3, or with PCR/culture confirmed infection(s). These cells will be derived from HSCT donors, and the study agent will be assessed at each dose for evidence of dose-limiting toxicities (DLT). This study will have two arms: Arm A will include patients who receive prophylactic treatment, and Arm B will include patients who receive VSTs for one or more active infections with targeted viruses. Determination of the study arm will be determined by the patient's clinical status. Study arms will each be analyzed for safety endpoints and secondary endpoints.

Type: Interventional

Start Date: Feb 2017

open study

A Study of Ribociclib and Everolimus Following Radiation Therapy in Children With Newly Diagnosed Non-biopsied...
Children's Hospital Medical Center, Cincinnati Diffuse Intrinsic Pontine Glioma Malignant Glioma of Brain High Grade Glioma Bithalamic High Grade Glioma Brainstem Glioma
In this research study, we want to learn about the safety of the study drugs, ribociclib and everolimus, when given together at different doses after radiation therapy. We also want to learn about the effects, if any, these drugs have on children and young adults with brain tumors.... expand

In this research study, we want to learn about the safety of the study drugs, ribociclib and everolimus, when given together at different doses after radiation therapy. We also want to learn about the effects, if any, these drugs have on children and young adults with brain tumors. We are asking people to be in this research study who have been diagnosed with a high grade glioma, their tumor has been screened for the Rb1 protein, and they have recently finished radiation therapy. If a patient has DIPG or a Bi-thalamic high grade glioma, they do not need to have the tumor tissue screened for the Rb1 protein, but do need to have finished radiation therapy. Tumor cells grow and divide quickly. In normal cells, there are proteins that control how fast cells grow but in cancer cells these proteins no longer work correctly making tumor cells grow quickly. Both study drugs work in different ways to slow down the growth of tumor cells. The researchers think that if the study drugs are given together soon after radiation therapy, it may help improve the effect of the radiation in stopping or slowing down tumor growth. The study drugs, ribociclib and everolimus, have been approved by the United States Food and Drug Administration (FDA). Ribociclib is approved to treat adults with breast cancer and everolimus is approved for use in adults and children who have other types of cancers. The combination of ribociclib and everolimus has not been tested in children or in people with brain tumors and is considered investigational. The goals of this study are: - Find the safest dose of ribociclib and everolimus that can be given together after radiation. - Learn the side effects (both good and bad) the study drugs have on the body and tumor. - Measure the levels of study drug in the blood over time. - Study the changes in the endocrine system that may be caused by the tumor, surgery or radiation.

Type: Interventional

Start Date: Nov 2017

open study

Allogeneic Virus-specific T Cell Lines (VSTs)
Catherine Bollard Viral Infections After HSCT
The primary purpose of the study is to evaluate whether most closely HLA-matched multivirus-specific T cell lines obtained from a bank of allogeneic virus-specific T cell lines (VSTs) have antiviral activity against three viruses: EBV, CMV and adenovirus. Reconstitution of anti-viral... expand

The primary purpose of the study is to evaluate whether most closely HLA-matched multivirus-specific T cell lines obtained from a bank of allogeneic virus-specific T cell lines (VSTs) have antiviral activity against three viruses: EBV, CMV and adenovirus. Reconstitution of anti-viral immunity by donor-derived VSTs has shown promise in preventing and treating infections associated with CMV, EBV and adenovirus post-transplant. However, the time taken to prepare patient-specific products and lack of virus-specific memory T cells in cord blood and seronegative donors, limits their value. An alternative is to use banked partially HLA-matched allogeneic VSTs. A prior phase II study at our institution using trivirus-specific VSTs generated using monocytes and EBV-transformed B cells gene-modified with a clinical grade adenoviral vector expressing CMV-pp65 to activate and expand specific T cells showed the feasibility, safety and activity of this approach for the treatment of refractory CMV, EBV and Adenovirus infections. However, the production process was lengthy, requiring 8-12 weeks, with exposure to biohazards (B95.8 EBV viral strain and adenovector), while antigenic competition between different viral components precluded increasing the spectrum of specificity beyond these three viruses. Investigator have overcome these limitations and in the current trial, they will evaluate whether rapidly generated, allogeneic most closely HLA-matched multivirus-specific VSTs, activated using overlapping peptide libraries spanning immunogenic antigens from CMV, adenovirus and EBV will be safe and produce anti-viral effects in allogeneic HSCT recipients infected with one of more of the targeted viruses that are persistent despite conventional anti-viral therapy. The study agent will be assessed for safety (stopping rules defined) and antiviral activity.

Type: Interventional

Start Date: Oct 2014

open study

Longitudinal Study of Urea Cycle Disorders
Andrea Gropman Brain Diseases, Metabolic, Inborn Amino Acid Metabolism, Inborn Errors Urea Cycle Disorders
Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a long-term analysis of a large group of individuals with various... expand

Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. The study will focus on the natural history, disease progression, treatment, and outcome of individuals with UCD.

Type: Observational

Start Date: Feb 2006

open study

Optimizing Haploidentical Aplastic Anemia Transplantation (BMT CTN 1502)
Medical College of Wisconsin Severe Aplastic Anemia
This study is a prospective, multicenter phase II study with patients receiving haploidentical transplantation for Severe Aplastic Anemia (SAA). The primary objective is to assess overall survival (OS) at 1 year post-hematopoietic stem cell transplantation (HSCT). expand

This study is a prospective, multicenter phase II study with patients receiving haploidentical transplantation for Severe Aplastic Anemia (SAA). The primary objective is to assess overall survival (OS) at 1 year post-hematopoietic stem cell transplantation (HSCT).

Type: Interventional

Start Date: Jul 2017

open study

Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
Children's Research Institute Urea Cycle Disorders
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 core of the neurological injury. In contrast, in distal UCD such as citrullinemia... expand

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 core of the neurological injury. In contrast, in distal UCD such as citrullinemia (argininosuccinate synthetase deficiency; (ASSD) and argininosuccinic aciduria (argininosuccinate lyase deficiency); (ASLD) cognitive impairment and neuropsychiatric disease are common even in the absence of acute HA. As a consequence, both citrulline and argininosuccinate (ASA) or their metabolic products have been implicated as neurotoxic. In this project the investigators will use state-of- the-art neuroimaging and neuropsychological methods to investigate whether patients with OTCD have chronically elevated brain Gln and reduced myo-inositol (mI) levels that correlate with regional brain structural abnormalities and neurocognitive dysfunction. The researchers will further investigate whether during an acute episode of HA elevated brain Gln and decreased mI levels correlate with the magnitude of cytotoxic edema and whether a Gln/mI ratio threshold can be identified at which the cytotoxic edema is followed by cell loss. Finally, the researchers will investigate whether regions of brain damage in ASSD and/or ASLD are distinct from those in OTCD and compare brain Gln levels in ASSD and ASLD in the absence of HA to those in OTCD. The investigators will also seek to determine if brain citrulline and ASA can be identified in the brains of patients with distal UCD and whether they correlate with brain abnormalities seen in MRI and neuropsychological testing. This project will elucidate the chronology of brain pathology both in acute hyperammonemia and chronic UCD and whether, proximal and distal UCD differ in their pathophysiology of brain damage.

Type: Observational

Start Date: Aug 2016

open study

Patients Treated for SCID (1968-Present)
National Institute of Allergy and Infectious Diseases (NIAID) SCID ADA-SCID XSCID Leaky SCID Omenn Syndrome
People with Primary Immune Deficiency (PID) may develop severe, life-threatening infections as a result of inherited defects in the genes that normally instruct blood-forming cells to develop and to fight infections. PID diseases include Severe Combined Immune Deficiency (SCID),... expand

People with Primary Immune Deficiency (PID) may develop severe, life-threatening infections as a result of inherited defects in the genes that normally instruct blood-forming cells to develop and to fight infections. PID diseases include Severe Combined Immune Deficiency (SCID), leaky SCID, Omenn syndrome (OS), and Reticular Dysgenesis (RD). PIDs may be treated by transplantation of bone marrow stem cells from a healthy person or, in some cases, by enzyme replacement or by gene therapy. Patients with SCID were among the first to receive bone marrow stem cell (also called hematopoietic cells) transplantation (HCT) more than 40 years ago, and HCT is the standard treatment today for this group of diseases. Since PID diseases are rare, there are not enough patients at any single center to determine the full range of causes, natural history, or best methods of treatment. For this research study many PID centers across North America have organized into the Primary Immune Deficiency Treatment Consortium (PIDTC) to pool their experience and study PIDs together. Researchers will collect information on your general health, psychological and developmental health, and the current status of your immune system to help better define future approaches to PID treatments.

Type: Observational

Start Date: May 2011

open study

Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995
National Institute of Allergy and Infectious Diseases (NIAID) Granulomatous Disease, Chronic
Chronic granulomatous disease (CGD) is an inherited immune system abnormality in which bone marrow transplantation (BMT) has been shown to be curative. However the risks of transplantation are high and not all patients with CGD may need to undergo this high risk procedure. This... expand

Chronic granulomatous disease (CGD) is an inherited immune system abnormality in which bone marrow transplantation (BMT) has been shown to be curative. However the risks of transplantation are high and not all patients with CGD may need to undergo this high risk procedure. This study will determine the long term medical condition and daily functioning of participants with CGD after a transplant and if possible, compare these results to participants who do not undergo a transplant.

Type: Observational

Start Date: Jun 2014

open study

A Phase I Study of Lyso-thermosensitive Liposomal Doxorubicin and MR-HIFU for Pediatric Refractory Solid...
AeRang Kim Pediatric Cancer Solid Tumors Rhabdomyosarcoma Ewing Sarcoma Soft Tissue Sarcomas
This study is looking to determine the maximum tolerated dose (MTD) and recommended phase 2 dose (RP2D) of lyso-thermosensitive liposomal doxorubicin (LTLD) administered in combination with MR-HIFU in children with relapsed/refractory solid tumors, which may include but are not... expand

This study is looking to determine the maximum tolerated dose (MTD) and recommended phase 2 dose (RP2D) of lyso-thermosensitive liposomal doxorubicin (LTLD) administered in combination with MR-HIFU in children with relapsed/refractory solid tumors, which may include but are not limited to rhabdomyosarcoma and other soft tissue sarcomas, Ewing's sarcoma family of tumors, osteosarcoma, neuroblastoma, Wilms' tumor, hepatic tumors, and germ cell tumors.

Type: Interventional

Start Date: Oct 2016

open study