A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia

• Register: ClinicalTrials.gov
• Last refreshed on: 12 December 2020
• Main ID: NCT04117880
• Date of registration: 19/09/2019
• Prospective Registration: No
• Primary sponsor: PTC Therapeutics
• Public title: A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia
• Scientific title: Nonsense Mutation Aniridia: An Ataluren (PTC124) Phase 2 Extension Study
• Date of first enrolment: December 31, 2018
• Target sample size: 0
• Recruitment status: Withdrawn
• URL: https://clinicaltrials.gov/show/NCT04117880
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 2

Key inclusion & exclusion criteria

Inclusion Criteria

Participants who will be selected for this study must meet the following criteria:

1. 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 one or both parents
must provide consent and the appropriate ages for obtaining consent and assent from
the participant should be followed.

2. Must have participated in and exited from Study PTC124-GD-028 ANI

3. Age =2 years and of either gender.

4. Body weight =12 kg.

5. Willingness and ability to comply with scheduled visits, drug administration plan,
study procedures, and study restrictions.

6. Good general health.

7. 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 or have been permanently sterilized.

- Hormonal methods of contraception (including oral and transdermal contraceptives,
injectable progesterone, progestin subdermal implants, progesterone-releasing
intrauterine contraceptive devices [IUDs]) initiated at least 14 days prior to
the first dose of study drug

- Abstinence

- Placement of a copper-containing IUD

- Condom with spermicidal foam/gel/film/cream/suppository

- Postmenopausal at least 12 months prior to first dose of study drug or
permanently sterilized (for example, tubal occlusion, hysterectomy, bilateral
salpingectomy)

- Male partner who has had a vasectomy for at least 3 months prior to the first
dose of study drug

8. Male participants with partners of childbearing potential must agree to use the
following adequate (at least 1 form of) contraception 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):

- Abstinence

- Vasectomy for at least 3 months prior to first dose of study drug or surgically
sterile

- Without a vasectomy, must use a condom with spermicidal foam/gel/film/cream
suppository

Exclusion Criteria

The presence of any of the following conditions will exclude a participant from study
enrollment:

General exclusion criteria

1. Participation in any drug or device clinical investigation (other than Study
PTC124-GD-028 ANI) within 90 days prior to Visit 1 (Screening) or anticipation of
participating in any other drug or device clinical investigation during this study.

2. Surgery within 30 days prior to enrollment.

3. Female participants who are pregnant or breastfeeding. Female participants of
childbearing potential must have a negative pregnancy test (beta-human chorionic
gonadotropin [ß-HCG]) at screening and must use adequate (at least 1 form of)
contraceptive methods.

4. Active ocular infection or inflammation.

5. 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.

6. Participants with a positive result for hepatitis B, hepatitis C, or human
immunodeficiency virus at Visit 1 (Screening).



Age minimum: 2 Years
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Aniridia

Intervention(s)

Drug: Ataluren

Primary Outcome(s)

Number of Participants With Treatment-Emergent Adverse Events (TEAEs) [Time Frame: 104 weeks]

Secondary Outcome(s)

Change From Baseline in Severity of Corneal Keratopathy at Week 104 [Time Frame: 104 weeks]

Change From Baseline in Visual Acuity at Week 104 [Time Frame: 104 weeks]

Secondary ID(s)

PTC124-GD-028e- ANI

Source(s) of Monetary Support

Please refer to primary and secondary sponsors