sepofarsen for Amaurosis

Phase-Based Progress Estimates
Universitair Ziekenhuis Gent (UZ), Ghent, Belgium
Amaurosis+12 More
sepofarsen - Drug
< 18
All Sexes
Eligible conditions

Study Summary

An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.

See full description

Eligible Conditions

  • Amaurosis
  • Leber Congenital Amaurosis
  • Sensory Disorders
  • Retinal Dystrophies
  • Eye Disorders Congenital
  • Neurologic Signs
  • Retinal Degeneration
  • Eye Diseases
  • Retinal Diseases
  • Micropsia
  • Leber Congenital Amaurosis 10

Treatment Effectiveness

Effectiveness Estimate

1 of 3

Compared to trials

Study Objectives

This trial is evaluating whether sepofarsen will improve 2 primary outcomes and 2 secondary outcomes in patients with Amaurosis. Measurement will happen over the course of 12 months.

12 months
Change from baseline to Month 12 in Best-corrected visual acuity (BCVA)
Change from baseline to Month 12 in retinal sensitivity measured by Full-field stimulus testing (FST)
24 months
Incidence and severity of non-ocular adverse events (AEs)
Incidence and severity of ocular adverse events (AEs)

Trial Safety

Safety Estimate

2 of 3
This is better than 68% of similar trials

Compared to trials

Trial Design

4 Treatment Groups

Group 2 - open label
1 of 4
Group 3: open label
1 of 4
Group 4: double-masked, randomized to one of 2 dose cohorts
1 of 4
Group 1 - open label
1 of 4
Experimental Treatment

This trial requires 15 total participants across 4 different treatment groups

This trial involves 4 different treatments. Sepofarsen is the primary treatment being studied. Participants will be divided into 4 treatment groups. There is no placebo group. The treatments being tested are in Phase 2 & 3 and have had some early promising results.

Group 2 - open label
Group 3: open label
Group 4: double-masked, randomized to one of 2 dose cohorts
Group 1 - open label

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: 24 months
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly 24 months for reporting.

Closest Location

University of Alberta - Edmonton, Canada

Eligibility Criteria

This trial is for patients born any sex aged 18 and younger. There are 3 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
Male or female child, <8 years of age at Screening with a clinical diagnosis of LCA and a molecular diagnosis of homozygosity or compound heterozygosity for the CEP290 p.Cys998X mutation, based on genotyping analysis at Screening. A historic genotyping report from a certified laboratory are acceptable with Sponsor approval.
BCVA equal to or better than Logarithm of the Minimum Angle of Resolution (logMAR) + 4.0 (Light Perception), and equal to or worse than logMAR + 0.4 in the treatment eye.
Detectable outer nuclear layer (ONL) in the area of the macula.

Patient Q&A Section

Can neurologic signs be cured?

"Neurologic problems cannot be cured. However, treatment can delay or prevent a worsening of these conditions in many patients. The best approach for neurological patients is to monitor the symptoms and work toward a cure after their diagnosis. For patients with severe neurological comorbidities, a cure is unlikely." - Anonymous Online Contributor

Unverified Answer

What causes neurologic signs?

"Neoplasms may have neurologic sign(s) (e.g., headache, paresthesia, altered level of consciousness), but they are an indication of an underlying illness rather than a consequence of an occult brain tumour. Further research is needed to better understand the cause(s) of these signs." - Anonymous Online Contributor

Unverified Answer

What are the signs of neurologic signs?

"The most common signs of neurological dysfunction are the following: headaches, stiffness and/or weakness of arms, paralysis or weakness of legs and inability to control muscle pain. Weakness can be present as a vague feeling of feeling 'heavy', or that the limb muscles do not move as easily due to lack of coordination. There is typically not pain at the site of weakness. In general, weakness is a result of neurological dysfunction, but not usually the cause of the neurologic dysfunction. Weakness occurs most often in the hand and foot of those with CMT, also occurring in lower leg, lower back, shoulder/upper back and hip. The lower and upper back muscles are often the affected muscles, though leg weakness may also occur." - Anonymous Online Contributor

Unverified Answer

How many people get neurologic signs a year in the United States?

"Approximately 22,000 people may develop neurologic signs every year in the United States. The most commonly seen symptoms were headache (29.1%), sensory abnormalities, tremor (17.8%), and muscle weakness. Most often a neurologic evaluation was performed on those with neurological signs. The most common reasons for testing were to confirm or rule out subacute, acute, or chronic neurologic signs. The most commonly used tests included magnetic resonance imaging, electroencephalography, and electromyography. Neurologic signs were related to the presence of one or more symptoms. Neurologic signs were identified but not described by clinicians in 40 percent of all cases." - Anonymous Online Contributor

Unverified Answer

What are common treatments for neurologic signs?

"There are many common treatments for neurologic signs. A combination of medications, counseling and a multidisciplinary approach should be the mainstay of treatment for neurological sign. Antisecretory medications are useful in cases of headache, dizziness and vertigo. Anticonvulsants must be used cautiously, as the risk of seizures must be kept at a minimum, but when used they are helpful in chronic headache and seizures caused by brain tumors. Medication for tremors, seizures, fatigue and ataxia are discussed. Treatment for visual field defects and motor symptoms depends on the underlying cause, such as stroke or brain tumors." - Anonymous Online Contributor

Unverified Answer

Does sepofarsen improve quality of life for those with neurologic signs?

"Sepofensine increased QOL in patients with neurologic signs and may be an effective and well-tolerated alternative treatment option for persons with these life-threatening neuropathies in whom treatment with conventional therapies is not possible." - Anonymous Online Contributor

Unverified Answer

Who should consider clinical trials for neurologic signs?

"Patients who develop any of these features should be referred to neurology to make the diagnosis. Neurology can then work to establish if they are truly related to their CVS or something else that requires urgent consideration. Neurology could also establish the presence of a CNS condition as well." - Anonymous Online Contributor

Unverified Answer

Has sepofarsen proven to be more effective than a placebo?

"In accordance with clinical trial data, we saw similar efficacy for SePO/PI and the placebo in the clinical assessment of a group of patients with SCC." - Anonymous Online Contributor

Unverified Answer

How does sepofarsen work?

"Given the evidence of a neuropsychiatric effect on a large number of patients in a randomized study of patients with Alzheimer's disease, it is unclear whether the neurological abnormalities seen in our sepofarsen-treated patients are consistent with a putative neuropsychiatric effect. Further investigation are needed to see how this neuropsychiatric effect might differ from the therapeutic effect of sepofarsen." - Anonymous Online Contributor

Unverified Answer

How serious can neurologic signs be?

"We recommend that surgeons in particular should be familiar with and consider the possibility of neurologic signs during resection of [neurofibromin 1 (NF1) gene]] mutation-associated neurofibromatosis." - Anonymous Online Contributor

Unverified Answer

Is sepofarsen safe for people?

"Recent findings to date do not support concerns that sepofarsen may cause neurological, neuromuscular, or neuromuscular junction impairment. In those persons who may be more susceptible to these rare adverse events, pre-admission and periodic monitoring of adverse events are recommended." - Anonymous Online Contributor

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