Natural History Study for Charcot Marie Tooth Disease
Charcot-Marie-Tooth DiseaseCharcot-Marie-Tooth51 moreThe goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure. Participants will be asked to complete a Natural History Survey.
A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease...
Charcot-Marie-Tooth DiseaseThe COMMIT Study will assess the safety and effectiveness of FLX-787 in men and women with Charcot-Marie-Tooth disease (CMT) experiencing muscle cramps. Participants will be asked to take two study products during the course of the study. One of these study products will be a placebo. Approximately 120 participants in 20 study centers across the United States are expected to take part. Participants will be in the study for approximately 3 months and visit the study clinic 3 times.
Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth DiseaseThis is a multicenter, phase 2 study to evaluate the safety, tolerability, pharmacodynamics (PD), efficacy, and pharmacokinetics (PK) of ACE-083 in patients with Charcot-Marie-Tooth Disease Type 1 and Type X (CMT1 and CMTX), to be conducted in two parts. Part 1 is non-randomized, open-label, dose-escalation and Part 2 is randomized, double-blind, and placebo-controlled.
Erythropoietin Spinal Cord Compression Randomized Trial
Nerve Compression SyndromesTo determine whether erythropoietin, steroids and radiotherapy is safe and feasible to administer to patients with malignant spinal cord compression.
Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral...
Facioscapulohumeral Muscular DystrophyCharcot-Marie-Tooth DiseaseThis is an open-label, multicenter, phase 2 extension study to evaluate the safety, tolerability, PK, PD, and efficacy of ACE-083 in subjects with FSHD previously enrolled in Study A083-02 and subjects with CMT1 and CMTX previously enrolled in Study A083-03. This study will be conducted in two Parts: Part 1, which is a loading phase of 6 months' duration, and Part 2, the maintenance phase, which will last up to 24 months.
Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A
CMT1AThe disease Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy, for which no treatment has proved its effectiveness. It is autosomal dominant, associated with a duplication of the chromosome 17p11.2 region which leads to overexpression of the gene and the protein-peripheral myelin protein-22 (PMP22), a major component of peripheral myelin. In animals and humans, PMP22 mRNA level of glutathione S-transferase theta 2 and Cathepsin A (markers of oxidative stress), detected in a skin biopsy are markers that may play a role in the prognosis evolution of the disease. Furthermore, several studies have shown that the administration of progesterone increased the expression of PMP22 gene (measured in a skin biopsy) and worsening symptoms. In contrast, anti-progestins reduce the synthesis of PMP22 and improve symptoms in rat CMT1A. The long-term safety of anti-progesterone was evaluated for mifepristone (RU486) ulipristal acetate and (EllaOne®). Few side effects have been reported including a few cases of endometrial hyperplasia reversible upon discontinuation of treatment. With the RU486, rare cases of adrenal androgen and failure have been observed. However, EllaOne® has low antagonistic action on the glucocorticoid receptor and no action on androgen receptors. The investigators therefore believe that it will be well tolerated in humans and will reduce the synthesis of PMP22 and the action of oxidative stress by improving disability of patients.
The Importance of the Superior Cluneal Nerve in Patients With Low Back Pain
Low Back PainNerve Entrapment Syndrome1 moreThe cluneal nerves are a group of pure sensory nerves that provide direct cutaneous innervation to the buttocks. In recent years, pain syndromes secondary to cluneal nerve pathology ,have been implicated as the cause of chronic pain that both arises directly from the buttocks and is referred from the lower back, pelvic area, or even lower extremity regions . Cluneal syndromes are the causes of neuropathic pain, often underdiagnosed and overlooked, and other anatomical sources are often cited as the cause of pain in the etiology.The cluneal nerve complex includes the superior cluneal nerves (SCN), the middle cluneal nerves (MCN), and the inferior cluneal nerves (ICN). These nerves are susceptible to entrapment neuropathy due to direct or indirect compression and cause different clinical symptoms depending on their location. The superior cluneal nerve(SCN) originates from the T11-L5 nerve roots and has at least 3 branches from medial to lateral; these are the medial, intermediate, and lateral branches. Anatomy studies have shown that the medial branch passes 6-7 cm lateral to the midline on the posterior iliac crest. Nerve branches pass through the osteofibrous tunnel formed by the thoracolumbar fascia and the superior edge of the iliac crest, where they can be trapped. Controversial data exist regarding the osteofibrous tunnel. It may not be present in all cases, and in some cases more than one nerve has been shown to pass through the osteofibrous tunnel. As a result, there are discussions about superior cluneal nerve anatomy and there is not enough information. In patients with superior cluneal nerve entrapment syndrome, low back pain radiates to the upper part of the hip and may cause leg pain that mimics radiculopathy. The diagnosis is clinical. Diagnostic criteria for superior cluneal nerve (SCN) entrapment; Low back pain involving the iliac crest and buttocks, symptoms aggravated by lumbar movement or posture, trigger point over the posterior iliac crest corresponding to the nerve compression zone, patients report numbness and radiating pain in the SCN area (Tinel sign) when the trigger point is compressed, symptom relief by SCN block at the trigger point. Prevalence studies of superior cluneal nerve entrapment syndrome are very few. Maigne et al reported superior cluneal nerve entrapment in 1.6% of 1,800 patients with low back pain. Kuniya et al showed that 14% of 834 patients with low back pain met the criteria for superior cluneal nerve entrapment. Superior cluneal nerve entrapment is not as rare as it is thought to be among the causes of low back pain. In Turkey, there is no study showing the prevalence of the superior cluneal nerve or its importance in patients with low back pain. The aim of this study is to examine the patients who applied to Cerrahpasa Faculty of Medicine, Department of Physical Medicine and Rehabilitation polyclinic with low back pain; To confirm the diagnosis with an ultrasound-guided diagnostic injection test, to determine the importance of superior cluneal nerve entrapment.
Effect of Chitosan Phonophoresis On Cubital Tunnel Syndrome
Cubital Tunnel SyndromeUlnar Nerve Entrapment at Elbow2 more- This study will be conducted to answer the following question: Is there a statistically significant effect of chitosan phonophoresis on ulnar nerve conduction velocity, pain level & function in patients with mild to moderate cubital tunnel syndrome? - Fifty-four subjects suffering from mild to moderate cubital tunnel syndrome according to modified McGowan grading system (Palmer & Hughes, 2010) from both sexes diagnosed clinically by electromyography will be recruited for this study. The Age of the participants will range from 20 - 40 years old. Participants with Body mass index between 18.5 and 24.9kg/m2. EMS physio Ltd ultrasound device will be used in combination with chitosan nanoparticles gel. Electrodiagnostic test will be performed for ulnar nerve conduction velocity using Neuropack S1 MEB-9004 NIHON KODEN, JAPAN. Visual analogue scale (VAS) will be used to determine pain level. Quick DASH will be used to determine hand function.Patients will have 3 sessions per week for 5 weeks.
The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype...
CMTTo assess the safety and tolerability of the investigational product (VM202) injected in the weakened lower limb muscles of CMT1A patients
Evaluation of the Efficacy of Low Level Laser Therapy in Ulnar Neuropathy at the Elbow
Ulnar Nerve Entrapment at ElbowThe purpose of this study is, to demonstrate the effectiveness of low-level laser therapy on symptoms, clinical and electrophysiological parameters in elbow ulnar neuropathy.