Active clinical trials for "Atrophy"

The Motor Function Measure (MFM), a reliable tool assessing motor function and its progression in most neuromuscular diseases, is widely used in France in many teams. It can be used regardless of the severity of the motor impairment or the ambulatory status of the patient, allowing its use throughout the whole follow-up period of the patient, even in case of the loss of walking. Two versions of the MFM exist, one composed of 32 items originally validated for patients from 6 years old (MFM-32) and a shorter version composed of 20 items originally validated for patients between 2 and 6 years old (MFM-20). In order to prove the possible use of MFM-32 as early as the age of 2 years to validly and reliably monitor the evolution of the motor function of children treated with Nusinersen, we propose in this project to study the sensitivity to treatment-induced change of MFM-32 and the validity of the scale in this population.

The aim of the proposed project is to evaluate whether the metabolome of patients with spinal muscular atrophy (SMA) before the initiation of treatment with nusinersen differs from the metabolome of healthy individuals and whether it changes 14 months after treatment with nusinersen.

Helicobacter pylori (H. pylori) infection has been associated with a development of atrophic gastritis and intestinal metaplasia. H. pylori related atrophic gastritis and intestinal metaplasia have been regarded as pre-malignant lesion. However, the role of H. pylori eradication treatment in the reversibility of atrophic gastritis and intestinal metaplasia has not been clearly defined. The aim of the present study was to investigate the relationship between H. pylori eradication and the reversibility of atrophic gastritis and intestinal metaplasia in Korean patients.

The study is aimed to determine the potential of volatile marker testing for identification of gastrointestinal cancers (in particular - colorectal and gastric cancers), the related precancerous lesions in the stomach and colon. The study will be addressing the role of confounding factors, including lifestyle factors, diet, smoking as well as addressing the potential role of microbiota in the composition of exhaled volatile markers.

The objective of this study is to compare Cirrus HD-OCT automated measurements of the illumination area under the retinal pigment epithelium (RPE) to expert manual measurements of areas of hypofluorescence typical of geographic atrophy in fundus autofluorescence (FAF) images.

When a person is put on a breathing machine the investigators think that the breathing muscles can get weaker. The investigators are not sure how quickly this happens but in some people this leads to problems when they try to breathe on their own without the breathing machine. The diaphragm is at the bottom of a person's chest separating their lungs from what is in their belly and it is a very strong muscle. In fact, it is main muscle that one uses for breathing. An ultrasound machine is a painless way to see what is happening beneath the skin. It is safe and easy to do. Using an ultrasound the investigators are planning to measure how thick the diaphragm is and how much it changes while a person is on a breathing machine in the ICU. Getting a better understanding of this condition could lead to improved treatments that might help support patients who require a ventilator for breathing. The investigators hypothesis is that patients for whom the breathing machine is doing all of the work of breathing, will have their diaphragm thickness gradually decrease and changing to a breathing modem mode where they have to put in more effort the diaphragm thickness will start increasing again.

Multiple system atrophy (MSA) is a sporadic neurodegenerative disorder of the adult associated to a poor prognosis. MSA is clinically characterized by the association of extra-pyramidal, dysautonomic, cerebellar and pyramidal symptoms. Histological and biological studies have raised the hypothesis that, beside the well known dopamine deficiency, some of the symptoms could be related to a dysfunction in serotoninergic neurotransmission. Serotonin is involved in the modulation of several functions impaired in MSA, such as mood, motricity or sleep. The recent description of an association between loss of brainstem serotonin neurons and sudden death in patients with MSA reinforced the hypothesis of a critical role played by this neurotransmitter in the pathophysiology of this disease. Autoreceptors called 5-HT1a are strongly involved in the regulation of serotonin neurotransmission. During the last years several radio-ligands allowing in vivo PET quantification of 5-HT1a receptors, such as 18F-MPPF (4-(2'-methoxyphenyl)-1-[2'-(N-2''-piridinyl)-p-fluorobenzamide]methylpiperazine), were developed. Moreover, the investigators recently demonstrated the ability of this brain functional imaging method to investigate, in healthy volunteers, the functional properties of 5-HT1a autoreceptors through an evaluation of their desensitization after a single oral dose of fluoxetine.

This study aims to refine the capability of Multispectral Optoacoustic Tomography (MSOT) and Magnet Resonance Imaging (MRI) to characterise the molecular composition of muscle tissue non-invasively and to evaluate the therapeutic response in patients with spinal muscular atrophy (SMA) over time.

Patients requiring prolonged time on the ventilator are susceptible to a wide range of clinical complications and excess mortality. It is therefore imperative for them to wean at the earliest possible time. Respiratory muscle weakness due to disuse of these muscles is a major underlying factor for weaning failure. Surprisingly, there is not much known about the impact of critical illness and MV on the expiratory abdominal wall muscles.These muscles are immediately activated as ventilation demands increase and are important in supporting respiratory function in patients with diaphragm weakness. Weakness of expiratory abdominal wall muscles will result in a decreased cough function and reduced ventilatory capacity. These are considerable causes of weaning failure and (re)hospitalisation for respiratory complications such as pneumonia. Recent evidence shows that neuromuscular electrical stimulation (NMES) can be used as a safe therapy to maintain skeletal muscle function in critically ill patients. This study will be the first to test the hypothesis that breath-synchronized NMES of the abdominal wall muscles can prevent expiratory muscle atrophy during the acute stages of MV.

Background and Aim: Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by progressive symmetrical weakness and atrophy of proximal muscles causing from degeneration of anterior horn cells of spinal cord. Nusinersen must be administered intrathecally and this treatment is specially for spinal muscular atrophy. Procedural sedation is commonly enough for intrathecal treatment in children. In this retrospective study, the investigators aimed to present our experience in procedural sedation for the intrathecal treatment of patients with SMA 1,2 and 3 in our hospital.