Treatment Trials

7 Clinical Trials for Various Conditions

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COMPLETED
Study of Therapeutic Exercise in Acute Respiratory Failure to Improve Neuromuscular Disability Trial
Description

This is a stepped-wedge, cluster randomized, trial evaluating the effect of an early goal-directed mobilization intervention for ICU patients with acute respiratory failure within 12 medical and surgical ICUs across 4 hospitals in the University of Pennsylvania Health System. The investigators will conduct a 54-week trial to measure the effect of the intervention on multiple patient-centered outcomes of patient physical function and cognition, in addition to ICU and hospital length of stay and duration of mechanical ventilation compared to usual care.

COMPLETED
Effects of Standing on Non-Ambulatory Children With Spinal Muscular Atrophy
Description

Non-ambulatory children with a neuromuscular disability such as spinal muscular atrophy (SMA) are at significant risk for poor bone health as defined by low bone mineral density (BMD) and increased propensity to fracture. Poor bone health is thought to be related, at least in part, to abnormally low levels of load experienced by the skeleton. A common physical approach for increasing bone density is to stimulate the musculoskeletal system by increasing the amount and duration of weight-bearing in the lower extremities. For non-ambulatory individuals, this takes the form of using an assisted standing device to enable the child to spend time in a standing position with some degree of weight placed on the lower limbs. Some of these physical interventions demonstrate variable improvement in BMD in children with neuromuscular conditions, and some do not. A serious limitation in the previous work in this area is a failure to objectively measure the magnitude and duration of the loading experienced by the lower extremities. Thus, a lack of change in BMD may be due to the extremities experiencing only a fraction of the body weight (due to load-sharing with the assistive device) for an inadequate duration of standing time. In order to investigate the efficacy of standing treatment for increasing BMD, the investigators will develop a simple, portable and inexpensive transducer that will measure the magnitude and time course of the load experienced by the lower extremities of individuals with SMA who use a stationary assisted standing device. The specific goal of this proposed project will be to develop, validate and establish the initial feasibility of such a measurement device.

COMPLETED
Load Experienced While Using a Stander in Children With Cerebral Palsy
Description

The goal of this project is to design and validate a force-measuring platform that will measure the magnitude and duration of the load experienced by the lower extremities of individuals with a neuromuscular disability who use a stationary assisted standing device to increase their Bone Mineral Density.

Conditions
WITHDRAWN
Effects of Whole Body Vibration in Elderly Patients Requiring Rehabilitation: A Pilot Study
Description

The aim of this study is to accumulate data about the influence of whole body vibration on the functional recovery of adult patients with various neuromuscular and musculoskeletal deficits requiring physical medicine and rehabilitation treatments.

COMPLETED
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Description

The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usual care and (2) participant pre-visit preparation to no pre-visit preparation. The study will use a randomized controlled design, with 2x2 factorial design, coupled with patient-reported outcomes and comprehensive clinical data collection addressing key outcomes, to determine the net impact of diagnostic results and secondary findings.

RECRUITING
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Description

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required. The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries. Study hypothesis: 1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. 2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.

Conditions
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) DeficiencyAlpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations)Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan and Epilepsy)Alpha-Dystroglycanopathy (Dystroglycanopathy, Congenital With or Without Mental Retardation (Formerly MDC1C))Alpha-Dystroglycanopathy (Fukuyama CMD)Alpha-Dystroglycanopathy (LGMDR09 FKRP Related (Formerly LGMD2I))Alpha-Dystroglycanopathy (LGMDR11 POMT1 Related (Formerly LGMD2K))Alpha-Dystroglycanopathy (LGMDR13 FKTN Related (Formerly LGMD2M))Alpha-Dystroglycanopathy (LGMDR14 POMT2 Related (Formerly LGMD2N))Alpha-Dystroglycanopathy (LGMDR15 POMGnT1 Related (Formerly LGMD2O))Alpha-Dystroglycanopathy (LGMDR19 GMPPB Related (Formerly LGMD2T))Alpha-Dystroglycanopathy (LGMDR20 ISPD Related (Formerly LGMD2U))Alpha-Dystroglycanopathy (LGMDR24 POMGnT2 Related)Alpha-Dystroglycanopathy (Muscle Eye Brain Disease (MEB))Alpha-Dystroglycanopathy (Walker Warburg Syndrome (WWS))Choline Kinase B Receptor - CHKBCollagen VI Related DisordersCollagen XII Related DisordersCongenital Muscular Dystrophy Not Otherwise Specified (Including Merosin Positive)Congenital Muscular Dystrophy With Cataracts and Intellectual Disability (MDCCAID)Congenital Muscular Dystrophy With Joint HyperlaxityCongenital Muscular Dystrophy With Rigid Spine Related to ACTA1Emery-Dreifuss Muscular DystrophyGOLGA2-related Congenital Muscle Dystrophy With Brain InvolvementLMNA Related DisordersMerosin Deficient CMD (Full or Partial)Nesprin Related MD (SYNE1)SELENON Related Disorders (Previously Known as SEPN1)SELENON Related Myopathy (Aka SEPN1)Telethonin CMDCongenital Myasthenic SyndromeLimb-Girdle Muscular DystrophyLGMDD01 - DNAJB6 (Formerly LGMD1D)LGMDD05 - Collagen VI Related Bethlem Myopathy (Dominant)LGMDR07 - Telethonin (TCAP) Related (Formerly LGMD2G)LGMDR08 - TRIM Related (Formerly LGMD2H)LGMDR09 - FKRP Related (Formerly LGMD2I)LGMDR10 - Titin (TTN) Related (Formerly LGMD2J)LGMDR11 - POMT1 Related (Formerly LGMD2K)LGMDR13 - Fukutin (FKTN) Related (Formerly LGMD2M)LGMDR14 - POMT2 Related (Formerly LGMD2N)LGMDR15 - POMGnT1 Related (Formerly LGMD2O)LGMDR16 - DAG1 Related Dystroglycanopathy (Formerly LGMD2P)LGMDR17 - Plectin (PLEC) Related (Formerly LGMD2Q)LGMDR18 - TRAPPC11 Related (Formerly LGMD2S)LGMDR19 - GMPPB Related (Formerly LGMD2T)LGMDR20 - ISPD Related (Formerly LGMD2U)LGMDR22 - Collagen VI Related Bethlem Myopathy (Recessive)LGMDR23 - LAMA2 RelatedLGMDR24 - POMGnT2 Related
COMPLETED
International Guillain-Barré Syndrome Outcome Study
Description

International GBS Outcome Study (IGOS) is a study conducted by the members of the Inflammatory Neuropathy Consortium (INC) and Peripheral Nerve Society (PNS) on disease course and outcome in Guillain-Barré syndrome (GBS). The IGOS aims to identify clinical and biological determinants and predictors of disease course and outcome in individual patients with Guillain-Barré syndrome, as early as possible after onset of disease.