Risdiplam for Muscular Atrophy, Spinal
This study is evaluating whether a drug called risdiplam can be used to treat spinal muscular atrophy.
See full descriptionAbout the trial for Muscular Atrophy, Spinal
Treatment Groups
This trial involves 2 different treatments. Risdiplam is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are in Phase 2 and have already been tested with other people.
About The Treatment
Side Effect Profile for Moderate Hepatic Impairment
Eligibility
This trial is for patients born any sex aged 65 and younger. There are 5 eligibility criteria to participate in this trial as listed below.
Approximate Timelines
Measurement Requirements
This trial is evaluating whether Risdiplam will improve 13 primary outcomes and 2 secondary outcomes in patients with Muscular Atrophy, Spinal. Measurement will happen over the course of Up to 2 years.
Patient Q & A Section
Can muscular atrophy, spinal be cured?
We were able to treat a patient of spinal muscular atrophy with [muscular dystrophy] with a novel exon skipping method. It was hypothesized that if enough exon skipping occurred that all the patient's transcripts would become the correct length, and lead to a complete recovery. While this is in a preliminary stage it is encouraging with the potential for [muscular dystrophy] to be cured. Future methods of exon skipping are needed to produce longer patient transcripts to cure SMA in general.
What are the signs of muscular atrophy, spinal?
Muscle weakness, lack of reflexes in the legs, inability to walk (leading to falls and fractures), and decreased endurance are the most frequently reported signs of spinal muscular atrophy. Decreases in stature and bone marrow decreases are also signs of spinal muscular atrophy.
What are common treatments for muscular atrophy, spinal?
Muscular atrophy is usually treated with physical therapy, medication, bracing, and traction. Treatment for a spinal presentation may include surgery to correct a compression injury or surgical fusion of a spinal defect with an adjacent vertebral body. Nonoperative treatment of myelopathy may include anti-inflammatory medication, orthotopic iliac bone graft and splinting. Patients with a more severe spinal atrophy and deformity may be considered for surgery to correct bone spur formation, or anterior lumbar interbody fusion.
What causes muscular atrophy, spinal?
The muscle atrophic phase of skeletal myopathy is characterised by a breakdown of muscle fibers with a concurrent reduction in strength of muscle contraction and changes in the appearance of muscle fibers. Muscle fibers become increasingly fragmented during the course of the disease process, and a breakdown in the structure of the connective tissue may also be an important feature of muscle wasting. This pattern of changes in both size and morphology of individual muscle fibers coincides with the stages of muscle degeneration and is a common feature of many myopathies.
What is muscular atrophy, spinal?
Symptoms of muscular atrophy are best described by the term 'lower back trouble'. We recommend the use of the term'spinal muscular atrophy' for those with spinal involvement. We advocate the use of the term 'progressive bulbar palsy' in patients with bulbar involvement only and of the term'spastic quadriparesis' in patients with a combination of both 'bulbar' and'spastic' symptoms.
How many people get muscular atrophy, spinal a year in the United States?
The prevalence of this disease increases with age with around 40,000 new cases per year in persons over 85 years old. This article is protected by copyright. All rights reserved.
Have there been other clinical trials involving risdiplam?
There was no evidence that risdiplam shows efficacy, nor adverse effects, in treating spinal muscular atrophy (SMA), and its use is supported as a standard therapy in most countries.
Who should consider clinical trials for muscular atrophy, spinal?
No absolute "rule-of-thumb" exists for starting clinical trials in spinal muscular atrophy. As we move to a 'personalised' approach, clinical trials may become a more important tool for stratifying patients and guiding treatment.
What is the primary cause of muscular atrophy, spinal?
In the most recent study, spinal muscular atrophies are generally thought to result from abnormal signals arising from the spinal cord to the muscles. These signals could be affected by various diseases, such as arthritis. However, in this case, the etiology of spinal muscular atrophy with predominant involvement of spinal muscular atrophies at the onset of motor neuron disease in this individual is thought to be due to a mutation in the HFE gene affecting iron metabolism. The main causes for spinal muscular atrophy are thought to be genetic in nature. The HFE gene mutation is the single most common cause of spinal muscular atrophy in Finland. The inheritance of this mutation can be either autosomal dominant or autosomal recessive.
Does muscular atrophy, spinal run in families?
Our studies suggest there is an increased prevalence of MASS in families with spinal muscular atrophy (SMA) but there is no evidence that SMA is a specific cause of MASS.
What does risdiplam usually treat?
The clinician should consider treating patients with severe spinal muscular atrophy (SMA) associated with a high mortality rate. In a recent study, findings emphasizes the importance of early identification and treatment.
What is the average age someone gets muscular atrophy, spinal?
The mean reported age at the time of diagnosis in the literature is 55.5 years which suggests that spinal muscular atrophy, a rare genetic disorder, is diagnosed later than it should be, particularly in non-Mediterranean European countries. It occurs more frequently in males who present later on.