Active clinical trials for "Bulbo-Spinal Atrophy, X-Linked"

This is a therapeutic trial study to demonstrate whether Goserelin, a LHRH agonist has benefit in SBMA Objective: To study effects of Goserelin to clinical course of patients with spinal and bulbar muscular atrophy in Thailand To demonstrate physiological and pathological changes in treated patients with Goserelin. To assess tolerability and adverse effect of Goserelin therapy

We want investigate if high intensity training can increase daily functionality without causing muscle damage in patients Spinal and Bulbar Muscular Atrophy . We want to study if there is a difference in effect with supervised and unsupervised training. Furthermore we want to study if a supervised training program will motivate participants to continue training by the end of the program.

Background: - Spinal and bulbar muscular atrophy (SBMA) is an inherited disease. It causes weakness in muscles used for swallowing, breathing, and speaking. SBMA mainly affects men, but women can carry the gene for it. Researchers think there may be a link between SBMA and excess fat in the liver. Objective: - To look for fatty liver and liver injury in people with SBMA, people with motor neuron disease, and people who carry the gene for SBMA. Eligibility: Adults 18 years and older who have SBMA, have motor neuron disease, or are carriers of SBMA. Healthy adult volunteers. Design: Participants will be screened with medical history, physical exam, and blood tests. Participants will have 1 outpatient visit of 1-2 days. Women will have a urine pregnancy test. All participants will have: Blood tests. Liver ultrasound. A probe is placed on the abdomen at certain locations and angles and takes pictures. The painless procedure takes 20-30 minutes. Liver magnetic resonance imaging (MRI) scan. The MRI scanner is a metal cylinder with a magnetic field. Participants will lie on a table that slides in and out of it. They will be in the scanner for about 30 minutes. They will get earplugs for loud noises. Some participants with abnormal liver testing will have a biopsy (small piece) of the liver taken. The biopsy site will be located with ultrasound, then cleaned and numbed. The physician will quickly pass a needle in and out of the liver while the participants holds their breath. Afterward, participants will be monitored in bed for 6 hours. Participants may return for follow-up and another 1-2 day outpatient visit yearly for up to 2 years.

This study proposes to identify acoustic and perceptual markers related to upper motor neuron (UMN) degeneration and lower motor neuron (LMN) degeneration in the dysarthria of patients with amyotrophic lateral sclerosis (ALS) which involves the degeneration of both systems. ALS patients will be gathered in clinical groups according to electromyogram (EMG) and clinical signs observed in the bulbar site. UMN signs are defined as jaw clonus, gag reflex and pseudobulbar features (lability). LMN signs are defined as lingual atrophy and fasciculations. The dysarthria will be compared to dysarthria of patients involving an exclusive UMN system degeneration (in primitive lateral sclerosis) and an exclusive LMN system degeneration (Kennedy's disease). Patients will be compared to the controls who permitted to establish the standards of the "MonPaGe" tool. MonPaGe is a computerized tool based on a multidimensional and quantified assessment of voice and speech, by a set of targeted acoustic and perceptual criteria.

Kennedy disease is an inherited neuromuscular disorder that is characterized by progressive muscle wasting and weakness. It typically starts with muscle spasms and tremors in the arms, followed by muscle weakness and atrophy of muscles in the arms and legs. The facial and bulbar muscles are also involved. However, the muscle involvement pattern has not been investigated systemically in Kennedy disease. The primary aim of the study is to investigate the muscle involvement in patients with Kennedy disease using MRI. Secondary aims are to examine disease severity and to test MRI as a potential outcome measure for future clinical trials in Kennedy disease. Approximately 40 patients with Kennedy disease and 20 gender and age matched healthy voluntary controls will be recruited. The study consists of one visit per subject lasting 4-5 hours.