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Active clinical trials for "Muscular Atrophy"

Results 121-130 of 458

Risdiplam in Patients With Spinal Muscular Atrophy Previously Treated With Nusinersen

Spinal Muscular Atrophy

Risdiplam Exchange (RISE) is a study of spinal muscular atrophy (SMA) patients who crossover to 36 months of open-label risdiplam monotherapy following a comparable period of nusinersen treatment. The schedule of assessments (SOAs) carry over seamlessly for the cohort from studies done while treated with nusinersen and continue to track the most informative outcomes from that trial (e.g. nine hole peg test and grip strength), while adding the Box and Block Test (BBT) as an additional measure of upper limb endurance and function.

Not yet recruiting6 enrollment criteria

Virtual Reality for the Mitigation of Anxiety During Intrathecal Administration in Participants...

Spinal Muscular Atrophy (SMA)

The primary objective of the study is to evaluate anxiety level during intrathecal administration (IT) under standard of care (SOC) and virtual reality (VR) conditions using a reliable self-rating scale.

Recruiting12 enrollment criteria

Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

Spinal Muscular AtrophyCharcot-Marie-Tooth Disease6 more

The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.

Recruiting3 enrollment criteria

Effects of a Multi-Ingredient Pre-Workout Supplement on Body Composition, Performance, Muscular...

Protein DeficiencyTraining Group4 more

The investigation will be conducted as a double blinded, randomized, parallel between treatment conditions comparison design with two different groups ingesting a different supplement each one.

Not yet recruiting6 enrollment criteria

Impact of Fish Oil Dose on Tissue Content and Function

AgingSarcopenia1 more

In this 5-month study, we will track the incorporation and washout of n-3 PUFA into different tissues following two different dosing strategies in healthy young and older volunteers. All groups will be followed for washout. Data gathered from this study will be used to establish novel dosing strategies and provide insights into the incorporation of n-3 PUFAs in different tissues and their washout in young and older participants.

Active20 enrollment criteria

Myotonometer Intra- and Inter Examiner Reliability on Spinal Muscular Atrophy

Muscle Tone PoorSpinal Muscular Atrophy

The primary aim of the study was to measure the intra-rater and inter-rater reliability of MyotonPRO in measuring postural muscle tone and mechanical properties in individuals with spinal muscular atrophy (SMA). The secondary aim is to question the existence of a relationship between the functional levels of individuals with SMA and their muscle tone and biomechanical properties. It is assumed that the outputs to be obtained from this research will form the norm data for moyotonometer evaluation in children with SMA.

Enrolling by invitation5 enrollment criteria

Early Check: Expanded Screening in Newborns

Spinal Muscular AtrophyFragile X Syndrome2 more

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.

Enrolling by invitation6 enrollment criteria

Vitamin K2 Supplements for Muscle Recovery

Muscle AtrophyCachexia

Ankle injury is one of the most common injuries which can have long term consequences. Ankle immobilization is often applied for up to six weeks to ensure healing of the soft tissue and fractured bones after such an injury. This causes significant wasting of the lower leg muscles driven by inflammation and oxidative stress. The rate of muscle atrophy and recovery after injury varies significantly by sex and age. These differences might be linked to changes in gene and protein expression associated with regulation of protein synthesis and proteolysis. Interventions that reduce the deleterious effects of ankle injury as well as understanding of the underlying mechanisms could be particularly useful in promotion of healthy ageing. Vitamin K includes a group of structurally related compounds. Phylloquinone (vitamin K1) and menaquinones (vitamin K2s) of which MK-4 and MK-7 are the most important. Vitamin K2 has anti-inflammatory and antioxidant effects and thus may be effective in reducing muscle atrophy during limb immobilization and improving recovery of muscle function after injury. This aim of the current study is to investigate if vitamin K2 supplements can ameliorate muscle atrophy and improve recovery of muscle function after ankle injury. The investigators will study younger (18-39 year old) and older (40-60 year old) men and women to assess effects of sex and age.

Not yet recruiting17 enrollment criteria

YOOMI: Effect of Gamified Physical Therapy Exercise Software on Inpatient Mobility

WeaknessMuscle6 more

Patients admitted to the hospital often develop functional impairments due to being in bed most of the day. Each day of bedrest leads to significant muscle loss. As a result, many patients become dependent on others or require rehabilitation at a facility to improve mobility and function prior to returning home. Staff in the hospital is limited and often unable to mobilize patients every day while hospitalized. The investigators are testing a new experimental gamified physical therapy exercise software to see if it can be a fun, enjoyable way to help mobilize patients without the assistance of staff. The primary aim of this pilot/proof of concept study is to determine whether gamified physical therapy software can help inpatients exercise within the safety of their own beds and preserve pre-hospitalization function.

Not yet recruiting10 enrollment criteria

Adult Spinal Muscular Atrophy (SMA) China Registry

Muscular AtrophySpinal

The primary objective of the study is to describe the natural history and utilization of disease modifying therapy (DMT) among adult Chinese participants with SMA linked to chromosome 5q (5q-SMA).

Recruiting5 enrollment criteria
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