study of ataluren in participants with nonsense mutation aniridia

Conditions: Aniridia

Summary: this study is designed to evaluate the effect of ataluren on maximum reading speed as measured using the minnesota low vision reading test (mnread) acuity charts in participants with nonsense mutation aniridia. this study involves a 4-week screening period, a 144-week treatment period (stage 1: weeks 1 to 48 \[double-masked treatment\] and stage 2: weeks 49 to 144 \[open label treatment\]), an optional 96-week open label extension sub-study, and a 4-week post-treatment follow-up period (either study completion or early termination). participants that choose not to participate in the sub-study will be required to complete the post-treatment follow-up visit at the end of the stage 2 open-label extension.


Eligibility criteria:
inclusion criteria: * evidence of signed and dated informed consent document(s) indicating that the study candidate (and/or a parent/legal guardian) has been informed of all pertinent aspects of the study. note: if the study candidate is considered a child under local regulation, a parent or legal guardian must provide written consent prior to initiation of study screening procedures and the study candidate may be required to provide written assent. the rules of the responsible institutional review board/independent ethics committee (irb/iec) regarding whether 1 or both parents must provide consent and the appropriate ages for obtaining consent and assent from the participant should be followed. * body weight greater than or equal to (\>=) 12 kg. * documentation of the presence of a nonsense mutation in 1 allele of the pax6 gene as determined by genotyping performed at a laboratory certified by the college of american pathologists (cap), or under the clinical laboratory improvement act/amendment (clia), or by an equivalent organization. * clinical diagnosis of aniridia. * willingness and ability to comply with scheduled visits, drug administration plan, study procedures, and study restrictions. * good general health, as determined at screening by medical history and physical examination (including vital sign measurements). * no clinically significant abnormality based upon laboratory assessments at screening, in the opinion of the investigator. * female participants of childbearing potential are eligible for the study but must be willing to use adequate (at least 1 form of) contraceptive methods as described below during the study treatment period (starting from the day of first dose of study drug and ending 60 days after the last dose of study drug). childbearing potential is defined as participants who have experienced menarche and who are neither postmenopausal nor have been permanently sterilized. 1. hormonal methods of contraception (including oral and transdermal contraceptives, injectable progesterone, progestin subdermal implants, progesterone-releasing intrauterine devices \[iuds\]) initiated at least 14 days prior to the first dose of study drug 2. abstinence 3. placement of a copper-containing iud 4. condom with spermicidal foam/gel/film/cream/suppository 5. postmenopausal at least 12 months prior to first dose of study drug or permanently sterilized (for example, tubal occlusion, hysterectomy, bilateral salpingectomy) 6. male partner who has had a vasectomy for at least 3 months prior to the first dose of study drug * male participants with partners of childbearing potential must agree to use adequate (at least 1 form of) contraception as described below during the study treatment period (starting from the day of first dose of study drug and ending 60 days after the last dose of study drug). 1. abstinence 2. vasectomy for at least 3 months prior to first dose of study drug or surgically sterile 3. without a vasectomy, must use a condom with spermicidal foam/gel/film/cream suppository exclusion criteria: * participants participating in any drug or device clinical investigation within 90 days prior to screening or who anticipate participating in any other drug or device clinical investigation within the duration of this study. * exposure to ataluren within 90 days prior to screening. * surgery within 30 days prior to enrollment. * female participants who are pregnant or breastfeeding. female participants of childbearing potential must have a negative pregnancy test (beta-human chorionic gonadotropin \[beta-hcg\]) at screening and must use adequate (at least 1 form of) contraceptive methods. * active ocular infection or inflammation. * prior or ongoing medical condition (for example, concomitant illness, alcoholism, drug abuse, psychiatric condition), medical history, physical findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of study drug administration or follow-up would be completed, or could impair the assessment of study results. * participants with a positive result for hepatitis b, hepatitis c, or human immunodeficiency virus at visit 1 (screening). * ongoing warfarin, phenytoin, or tolbutamide therapy. * ongoing intravenous (iv) aminoglycoside or iv vancomycin use. * ongoing systemic cyclosporine therapy. note: topical cyclosporine therapy is permitted. * known hypersensitivity to any of the ingredients or excipients of the study drug (polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25c, crospovidone xl10, hydroxyethyl cellulose, vanilla, colloidal silica, or magnesium stearate). * 20/200 or worse visual acuity in the better eye with best correction. * participants who are monocular. * participants with a history of complications due to ocular surgery that could interfere with the study procedures or assessment of study endpoints. * participants with any other significant ocular or systemic disease that the investigator determines could interfere with the study.