Study to test the safety and tolerability of different doses (amounts) of sepofarsen (an RNA therapy) in children of age 3 to less than 8 years that have CEP290 mediated Leber Congenital Amaurosis 10 (LCA10) due to the c.2991+1655A>G mutatio
- Conditions
- eber Congenital Amaurosis 10 (LCA10) due to c.2991+1655A>G mutation (p.Cys998X) in the CEP290 GeneMedDRA version: 20.0Level: PTClassification code 10070667Term: Leber's congenital amaurosisSystem Organ Class: 10010331 - Congenital, familial and genetic disordersTherapeutic area: Diseases [C] - Eye Diseases [C11]
- Registration Number
- EUCTR2020-000535-45-GB
- Lead Sponsor
- ProQR Therapeutics
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Authorised-recruitment may be ongoing or finished
- Sex
- All
- Target Recruitment
- 10
1. Male or female child, 3 to <8 years of age at Screening
2. A clinical diagnosis of LCA and a molecular diagnosis of homozygosity or compound heterozygosity for the c.2991+1655A>G mutation in the CEP290 gene, based on genotyping analysis at Screening. Historic genotyping results from a certified laboratory are acceptable with Sponsor approval.
3. Best corrected visual acuity (BCVA) equal to or better than Light Perception, and equal to or worse than approximate Snellen equivalent 20/50 in the treatment eye.
4. Clear ocular media and adequate pupillary dilation to permit good quality retinal imaging, as determined by the Investigator.
Are the trial subjects under 18? yes
Number of subjects for this age range: 10
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range 0
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range 0
1. Presence of additional homozygous or compound heterozygous pathogenic mutations (other than the c.2991+1655A>G mutation in the CEP290 gene) in genes associated with other recessive inherited retinal degenerative diseases or syndromes (eg, Usher syndrome) based on genotyping analysis.
2. Presence of any significant ocular or non-ocular disease/disorder (including medication abnormalities) which may either put the subject at risk because of participation in the trial, may influence the results of the trial, or the subject’s ability to participate in the trial.
3. Receipt within 3 months prior to Screening of any intraocular or periocular surgery (including refractive surgery), or an intravitreal (IVT) injection or planned intraocular surgery or procedure during the course of the trial.
4. Current treatment or treatment within the past 3 months or planned treatment with drugs known to be toxic to the lens, retina, or the optic nerve.
5. Use of any investigational drug or device within 3 months or 5 half-lives of Day 1, whichever is longer, or plans to participate in another study of a drug or device during the trial period.
6. Any prior receipt of genetic or stem-cell therapy for ocular or non-ocular disease.
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Main Objective: The primary objective of the study is to evaluate safety and tolerability of sepofarsen in pediatric subjects aged 3 to <8 years;Secondary Objective: The secondary objectives of the study are to evaluate the effect of sepofarsen on structural and functional ophthalmic outcome measures.;Primary end point(s): Primary endpoints are:<br>• Incidence and severity of ocular AEs <br>• Incidence and severity of non-ocular AEs;Timepoint(s) of evaluation of this end point: Until 24 months after IVT injection
- Secondary Outcome Measures
Name Time Method Secondary end point(s): Secondary endpoints are:<br>• Best-corrected visual acuity (BCVA) <br>• Retinal sensitivity measured by Full-field stimulus testing (FST) (white, red, and blue)<br>;Timepoint(s) of evaluation of this end point: 12 months<br>Change from baseline values for these endpoints will also be assessed at other time points.