CLINICAL TRIAL

Risdiplam for Muscular Atrophy, Spinal

Waitlist Available · < 65 · All Sexes · London, United Kingdom

This study is evaluating whether a drug called risdiplam can be used to treat spinal muscular atrophy.

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About the trial for Muscular Atrophy, Spinal

Eligible Conditions
Muscular Atrophy, Spinal · Spinal Muscular Atrophy (SMA) · Muscular Atrophy · Atrophy

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.

Main TreatmentA portion of participants receive this new treatment to see if it outperforms the control.
Risdiplam
DRUG
Control TreatmentAnother portion of participants receive the standard treatment to act as a baseline.

About The Treatment

Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Risdiplam
FDA approved

Side Effect Profile for Moderate Hepatic Impairment

Moderate Hepatic Impairment
Show all side effects
Upper gastrointestinal haemorrhage
13%
Pruritus
0%
Ear pain
0%
Dyspepsia
0%
Chest discomfort
0%
Diarrhoea
0%
Vomiting
0%
This histogram enumerates side effects from a completed 2020 Phase 1 trial (NCT03920865) in the Moderate Hepatic Impairment ARM group. Side effects include: Upper gastrointestinal haemorrhage with 13%, Pruritus with 0%, Ear pain with 0%, Dyspepsia with 0%, Chest discomfort with 0%.

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.

Inclusion & Exclusion Checklist
Mark “yes” if the following statements are true for you:
For participants aged 2 years or younger at screening: 1.) Parent or caregiver of participant is willing to consider nasogastric, naso-jejunal or gastrostomy tube placement, as recommended by the Investigator, during the study to maintain safe hydration, nutrition and treatment delivery; 2.) Parent or caregiver of participant is willing to consider the use of non-invasive ventilation, as recommended by the Investigator during the study
Previous enrollment in Study BP29420 (Moonfish) with the splicing modifier RO6885247 or previous treatment with any of the following: 1.) Nusinersen (defined as having received >= 4 doses of nusinersen, provided that the last dose was received >= 90 days prior to screening) or 2.) Olesoxime (provided that the last dose was received <= 12 months and >= 90 days prior to screening) or 3.) AVXS-101 (provided that the time of treatment was >= 12 months prior to screening)
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Odds of Eligibility
Unknown<50%
Be sure to apply to 2-3 other trials, as you have a low likelihood of qualifying for this one.Apply To This Trial
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Approximate Timelines

Please note that timelines for treatment and screening will vary by patient
Screening: ~3 weeks
Treatment: varies
Reporting: Baseline up to 5 years
This trial has approximate timelines as follows: 3 weeks for initial screening, variable treatment timelines, and reporting: Baseline up to 5 years.
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- What options you have available- The pros & cons of this trial
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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.

SMN Protein Levels in Blood
UP TO 2 YEARS
Cmax of Risdiplam Metabolite
UP TO 2 YEARS
Maximum Plasma Concentration (Cmax) of Risdiplam
UP TO 2 YEARS
Area Under the Plasma Concentration Versus Curve (AUC) of Risdiplam
UP TO 2 YEARS
Mean Plasma Concentration of Risdiplam
UP TO 2 YEARS
Concentration of Risdiplam at the End of Dosing Interval (Ctrough)
UP TO 2 YEARS
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Patient Q & A Section

Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer

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.

Anonymous Patient Answer
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