Study of ALS Reversals 4: LifeTime Exposures
Amyotrophic Lateral SclerosisProgressive Muscular Atrophy1 moreHypothesis: There exists patients who have met ALS or PMA diagnostic criteria and subsequently experienced robust and sustained improvement, i.e. a "reversal." Thirty-eight of these patients were identified in the prior Duke University study, Documentation of Known ALS Reversals (St.A.R. Protocol 1, Duke IRB Pro00076395). The investigators hypothesize these patients have had different environmental exposures than patients with typically progressive ALS. Identification of specific environmental influences may point to exposures which are protective or exposure that lead to the development of a rare and novel reversible ALS-like disease. Objective: This study seeks to identify environmental exposures associated with ALS reversals.
CO2 Laser in the Treatment of the GSM - (Genitourinary Syndrome of Menopause) Genitourinary Syndrome...
MenopauseVaginal Atrophy1 moreMenopause is a woman's hormonal status one year after her ovulatory failure, when the decrease of circulating estrogen levels leads to a group of symptoms named Genitourinary Syndrome of Menopause (GSM), such as: vaginal dryness, dyspareunia, dysuria, epithelial fragility with recurrent bleedings, loss of genital elasticity and pH alterations causing recurrent infections. The CO2 laser is a fractional ablative source of light, capable of inducing neocollagenesis within the skin, reversing atrophies, increasing blood supply and reorganizing the architectural structure of the treated epithelium. Recent studies in the laser field show great improvement of the SGM, with satisfying results in female's sexual disfunction. Nevertheless, there is still a lack of studies that show, at the same time, the improvement in both patient's subjective reports and objective measurements, such as cytology, histology and immunohistochemistry. This study aims to thoroughly analyze the benefits of the CO2 laser in the treatment of the GMS, comparing the improvement found in questionnaires to the results of cytology, histology and immunohistochemistry for collagen I and III from vaginal biopsies before and after the laser treatment. Therefore, fourteen women after menopause complaining of symptoms of the GSM were selected from the ambulatory of the Hospital Universitário Antônio Pedro. The patients will be submitted to three CO2 intravaginal laser (Femilift®), with a 30-days interval between them. Biopsies of the vaginal wall will be taken one month before the start and one month after the end of the laser sessions, and material will be sent to histology, cytology and immunohistochemistry analysis. Results obtained will be compared to the patients' reports, in order to evaluate subjective and objective improvement due to the treatment.
Alterations of Muscle Secretome Associated With Muscle Atrophy Caused by Glucocorticoids
Cushing SyndromeSeveral studies have shown that lean mass, in particular muscle mass, is an excellent predictive survival factor in many diseases. A better knowledge of the mechanisms responsible for muscle atrophy and the identification of atrophic process markers are deeply needed for the development of new anti-atrophic therapies. Either as drugs used to treat several medical conditions or as endocrine hormones released in response to many stress situations (e.g., sepsis, cancer, insulinopenia…), glucocorticoids (GC) are recognized to play a major role in skeletal muscle atrophy. Indeed, the inhibition of GC action by a receptor antagonist (RU486) or by muscle-specific invalidation of the GC receptor inhibits the muscle atrophy in these stress situations. Therefore, all these data clearly indicate that GC play a major role in skeletal muscle atrophy observed in several conditions. Emerging evidence has revealed that the skeletal muscle has a secretory function. Human skeletal muscle secretome was first estimated at about 300 proteins by computational analysis and proteomic analysis have recently confirmed these results. Some of these secreted proteins, conceptualized as myokines, can act locally on muscle cells through autocrine/paracrine loops and on surrounding tissues such as muscle blood vessels or can be released into the blood stream to produce systemic effects. One prominent example is interleukin (IL)-6 which is released into circulation by contracting skeletal muscle and can regulate metabolic and inflammatory processes. As IL-6, several other potential myokines have been identified including IL-8, IL-15, insulin-growth factor I (IGF-I), follistatin-like 1 (FSTL1) or fibroblast-growth factor (FGF)-21. Moreover, secreted proteins may also reflected metabolic changes which take place in muscle cells. Indeed, myoblast differentiation is accompanied by dramatic changes in the secreted proteins profile as increased expression of Semaphorins, IGF-I, matrix metalloproteinase (MMP)-2 or Collagens. Thereby, the investigators hypothesized that skeletal muscle atrophy induced by GC is associated with specific alterations of the muscle secretome. The aim of this project is to identify the GC-induced changes in the secretome of human skeletal muscle cells in culture (in vitro approach) and to determine how these changes translate into the circulation of subjects exposed to high concentrations of GC (Cushing's syndrome) (in vivo approach). Characterization of these changes in human subjects should allow to better understand the cellular mechanisms involved in muscle atrophy and might lead to identify circulating biomarkers associated with skeletal muscle atrophy, as telopeptides are for bone tissue.
Development of a Space Exploration Assessment for Children With Spinal Muscular Atrophy
Spinal Muscular AtrophyAssessment1 moreThe aim of this randomized study is to develop a new motor assessment of space exploration in a 2D environment with upper limbs for children with spinal muscular atrophy 1 and 2 from 3 until 16 years old.
A Patient Centric Motor Neuron Disease Activities of Daily Living Scale
Amyotrophic Lateral SclerosisProgressive Muscular Atrophy2 moreThe purpose of this study is to learn about rates of patient-reported disease progression in patients with motor neuron diseases (amyotrophic lateral sclerosis, progressive muscular atrophy, primary lateral sclerosis, hereditary spastic paraplegia) outside the clinical setting, and the patient-reported clinical characteristics that influence this rate of progression. All patients enrolled in CReATe Connect, a Rare Diseases Clinical Research Network (RDCRN) Contact Registry, will be invited via email to participate in this study.
Association Between Lumbar Muscle Atrophy, Sagittal Pelvic Alignment and Stenosis Grade in Patients...
Lumbar Spinal Stenosis (LSS)This study is to evaluate the correlation between muscle atrophy (MA), sagittal alignment, and stenosis degree in patients with lumbar spinal Stenosis (LSS). From existing radiological images, specific radiographic parameters will be extracted. General Information (Age, sex, levels of stenosis, duration of symptoms) will be extracted from patient files.
Women's Satisfaction and Adherence to Vulvovaginal Atrophy Treatments
Vulvovaginal AtrophyThe primary objective of this study is to describe and assess participants' satisfaction with current vulvovaginal atrophy (VVA) treatment.
A Phase 1, Open-Label, Parallel Group Study to Evaluate the Pharmacokinetics and Safety of DARE-HRT1...
Vulvovaginal AtrophyVasomotor SymptomsAn open-label study to assess the PK of estradiol, estrone and progesterone from the DARE-HRT1 intravaginal rings at two different dose strengths.
The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related...
Stargardt DiseaseWhile a fair amount of clinical data on Stargardt disease type 1 (STGD1) have been published, very little is known about Stargardt disease type 4 (STGD4). The ProgStar 04 study is an important opportunity to leverage the infrastructure, clinical trials sites, methods, and central reading center of the ProgStar program to investigate the progression of STGD4 and will help to establish patient cohorts worldwide for future clinical trials.
Quantifying Quadriceps Atrophy Following Tibial Plateau Fracture
AtrophyThis study will quantify and examine the extent to which the quadriceps femoris muscle group atrophies following tibial plateau fractures and the length of time that atrophy affects function. The study will also look at the effects of tibial plateau fractures on the quadriceps muscle and the effect this atrophy has on functional outcome. Quadriceps atrophy will be measured both clinically and by using MRI scans taken pre-operatively, 3 months post operatively, and 1 year post-operatively. The injured leg and the non-injured leg will be scanned in order for the non-injured leg to serve as the control. In this way muscle volume can be estimated from the muscle thickness at specific locations in the thigh. The muscle strength of the quadriceps will also be assessed at the 3 month and 1 year visit by measuring isokinetic knee-extension torque, and functional assessment questionnaires will be completed at each study visit.