Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD who can undergo MRI and behavioral testing

Healthy males or females without known medical or metabolic disorder (control group) who can undergo MRI and behavioral testing

Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD or participants with CPS-1 who have had a recent hyperammonemic episode who can undergo MRI and behavioral testing

Males and females with ASSD and ASLD who can undergo MRI and behavioral testing

Urea Cycle Disorders

Behavioral

Children's Research Institute

Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders

Concentration based on area under curve on 1H MRS and quantitated by LCModel. A metabolite's tissue concentration is related to the integrated amplitude of the MRS signal it produces. Integrated amplitude is the area under the MRS signal curve. While MRS signals are usually acquired in the time domain as free induction decays or echoes, they are usually viewed and analyzed in the frequency domain. The frequency domain representation is derived from the acquired time domain data by the Fourier Transform. The protocols used selects 257 averages. This means, 257 free induction decays. The machine summates the data at each time point to generate one value for the area under the curve. Therefore, we don't have the measurement at each time point.
Furthermore, we measured voxels in two different brain areas containing different kinds of brain matter: one voxel was located in posterior cingulate gray matter (PCGM) and the other in parietal white matter (PWM).

Measure of white matter integrity in OTCD Patients and Controls in frontal white matter. Fractional anisotropy values fall on a scale of 0 to 1, with 0 meaning that the diffusion of water is isotropic and unrestricted, or equally restricted, in all directions and with 1 meaning that diffusion occurs along only one axis and is fully restricted along all other directions. Scores closer to 1 are associated with intact white matter while scores closer to 0 are associated with white matter damage.

correlation of the findings from neuroimaging with cognitive functioning that assesses executive function

Data will be kept on UCD website and released after study completion

Children's National Research Institute

Boston Children’s Hospital

Eligible subjects will receive pasireotide daily for 5 days before stem cell transplant, the day of the stem cell transplant, and daily for 8 days following the stem cell transplant. Preparatory regimen will be given 4 days before stem cell transplant.

Pasireotide + Preparatory Regimen

Sex: Female, Male

Ethnicity (NIH/OMB)

Race (NIH/OMB)

Region of Enrollment

Number of participants who experience grades III-IV GI toxicity

Percentage of GI Toxicity From the Preparatory Regimen and the GVHD Prophylaxis in Stem Cell Transplantation (SCT) Patients Who Are Treated With Pasireotide

Number of participants who experience acute GVHD

Percentage of Acute GVHD

Assess maximum severity of acute GVHD scored as stage 1 (least severe) through stage 4 (most severe) using BMT CTN, 2013 standards

Maximum Severity of Acute GVHD Compared to Historical Controls

Measure the number of participants who experience chronic GVHD

Incidence of Chronic GVHD Compared to Historical Controls

Assess maximum severity of chronic GVHD scored as none, mild, moderate or severe using 2014 NIH Consensus Criteria

Maximum Severity of Chronic GVHD Compared to Historical Controls

Rate of overall survival of participants at one year post transplant

Overall Survival Compared to Historical Controls

Rate of disease free survival of participants at one year post transplant

Disease Free Survival Compared to Historical Controls

Exploratory outcome-These levels will be evaluated as biomarkers of GI tract health and function in SCT patients and the correlation between these biomarkers and GI toxicity.

Citrulline and Fecal Calprotectin Levels Will be Measured

Exploratory outcome-Video capsule endoscopy will be performed in a subset of ten study participants on the last day study drug is administered. Images will be examined for evidence of the four following types of abnormalities: reddened/edema/villous blunting, erosion, ulcer and stenosis.

citrulline/отёк

Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders

Pasireotide in Prevention of GI Toxicity

Самая полная база данных о лекарственных травах, подтвержденная наукой