Active clinical trials for "Metabolism, Inborn Errors"

Cerebral palsy (CP) is a permanent disorder of movement or posture due to non-progressive impairments of the developing brain. Current estimates indicate that as many as 30% of CP cases may be genetic in nature. In our study, the investigators will re-examine the data of children with CP, who are registered in the Slovenian National Registry of Cerebral Palsy. All children will be invited to the University Children's Hospital, University Medical Centre Ljubljana, where they will be re-examined by a neurologist. Blood for genetic testing will be taken. In the case of confirmed genetic ethiology of CP, the search for specific therapy will be possible.

Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of inherited conditions. Previous studies have not examined caregiving from a network perspective, nor have they considered how cognitive and emotional responses, such as caregivers worry for themselves and relatives acquiring the disease or guilt related to the genetic etiology of their child s illness, as possible stressors; the current project fills this literature gap. Caregiving processes may vary across type of illness and the life course. In illnesses that impact children, parents and grandparents may take on caregiving roles whereas in conditions that impact adults, spouses and adult children may provide care. Caregivers must adapt to the strain of caring for their affected relatives and this adaptation may differ depending on caregiver roles. The caregiver s support network may influence adaptation, impacting the health and well-being of patients, their caregivers, and other relatives. This project, comprised of 5 substudies, will examine social contexts surrounding families involved in caring for individuals with chronic inherited conditions from a relational perspective. Surveys and interviews will assess participants cognitions and emotions about the disease, caregiving burden and caregiving/support network systems. In addition, biomarkers will be considered in 2 substudies to examine how caregiving roles and expectations impact health among caregivers. As part of our current inquiry, we have developed an assessment tool aimed at understanding caregiver experiences related to dietary practices in the context of metabolic conditions. To evaluate the psychometric properties of this scale, we propose a fifth substudy under the current protocol. We aim to recruit at least 5550 participants through residential/daycare centers, advocacy groups, and the NIH Clinical Center. We will recruit formal caregivers, multiple biological and non-biological adult relatives of affected individuals and typically developing controls to construct and evaluate caregiving/support network systems. This project will use a social network framework to develop and adapt common measures of caregiving roles to evaluate burden, perceptual bias, and unmet expectations in caregiving. The psychometric properties of these new measures, characteristics of family caregiving and support networks, and how these network characteristics are associated with caregiving strain and well-being, including biomarkers of physical health, will be investigated. The moderating role of family members cognitions and emotions and disease context will be considered. Findings will guide future research to develop network-based interventions promoting positive adaptation to the presence of inherited conditions in families through improved social environments and coping skills.

OBJECTIVES: I. Identify the genetic defect and fine map the gene that causes sitosterolemia.

This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.

Providing access of BPX-501 gene modified T cells and rimiducid to pediatric patients who do not meet the eligibility criteria of the BP-U-004 study.

The objective of this study is to make T-cell depleted stem cells from a family member who is a half match (haplo-identical) available on an expanded access basis to patients receiving one or two unrelated cord blood transplants who are at a higher risk of not engrafting in a safe amount of time. The purpose of the related stem cells is the give the bone marrow a "jump start" towards recovery. Ultimately, the cord blood cells will grow and permanently rescue the bone marrow.

Under the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes. To provide patient with the appropriate treatment for genetic disease. Besides, it can identify the genetic factor of idiosyncrasy or susceptibility to explain the medical difficulties and give patients personalized advice.