The objective of the study is to gain a better understanding of disease progression over time in male subjects with X-linked retinitis pigmentosa (XLRP).
ID
Source
Brief title
Condition
- Retina, choroid and vitreous haemorrhages and vascular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The primary endpoints of the study are
1) change from Baseline in Early Treatment Diabetic Retinopathy Study (ETDRS)
best-corrected visual acuity (BCVA) over time.
2) change from Baseline in retinal sensitivity assessed with microperimetry
over time.
Secondary outcome
The secondary endpoints are changes from Baseline in other functional and
anatomical measures over time.
Background summary
Blindness associated with any retinal disorder is extremely debilitating and
significantly impacts the patient*s quality of life. XLRP is incurable and
treatment is supportive at best. There are no currently marketed therapies
available for modifying the progression of XLRP. A significant unmet medical
need exists for new and effective therapies for XLRP, especially those designed
to halt or significantly reduce the rate of progression.
Rare diseases such as XLRP are often poorly characterised due to the scarcity
of data available from a limited patient population. Thus, drug development
aimed at treating XLRP is hampered by insufficient knowledge of the natural
history of the disease. The objective of the study is to gain a better
understanding of disease progression over time in subjects with XLRP.
Study objective
The objective of the study is to gain a better understanding of disease
progression over time in male subjects with X-linked retinitis pigmentosa
(XLRP).
Study design
This is a multicentre, prospective, observational study consisting of 7 visits
over a 24-month period:
Visit 1 (Screening/Baseline Visit);
Visit 2 (Month 3);
Visit 3 (Month 6);
Visit 4 (Month 9);
Visit 5 (Month 12);
Visit 6 (Month 18) and
Visit 7 (Month 24/End of Study or Early Termination Visit [if applicable]).
If a subject is discontinued early from the study, every reasonable effort will
be made to complete the assessments scheduled for the Early Termination Visit.
The study will enroll 2 BCVA subgroups, with a minimum of 120 subjects in
subgroup 2::
• subgroup 1: ETDRS BCVA >= 74 letters (Equivalent to: Snellen 6/9 or 20/32;
decimal 0.63; LogMar 0.2)
• subgroup 2: ETDRS BCVA 34-73 letters, inclusive (Equivalent to: Snellen 6/12
- 6/60 or 20/40 - 20/200; decimal 0.5 - 0.1; LogMar 0.3-1.0)
Study enrollment will be actively monitored, and enrollment into the individual
BCVA subgroups may be discontinued if the target sample size is reached.
Study burden and risks
This is an observational study. As no study drug is administered, there are no
risks or precautions related to administration of a study drug. The only
possible risks for participants are minimal and limited to the risks associated
with the research procedures done that are already part of the regular
examinations in the treatment of eye disease.
Midford Place, 2nd Floor 10
London W1T 5BJ
GB
Midford Place, 2nd Floor 10
London W1T 5BJ
GB
Listed location countries
Age
Inclusion criteria
a. Subject / legal guardian (if applicable) is willing and able to provide
informed consent and subject assent for participation in the study.
b. Are male and >= 7 years of age.
c. Have documentation of a pathogenic mutation in the retinitis pigmentosa
GTPase regulator (RPGR) gene
d. Are willing and able to undergo ophthalmic examinations, as required by
protocol, for up to 24 months.
e. Have a BCVA in at least 1 eye, as defined below:
• ETDRS BCVA >=74 letters
(Equivalent to: Snellen 6/9 or 20/32; decimal 0.63; LogMAR 0.2)
• ETDRS BCVA 34-73 letters, inclusive
(Equivalent to: Snellen 6/12 - 6/60 or 20/40 - 20/200; decimal 0.5 - 0.1;
LogMAR 0.3-1.0)
Eligibility by BCVA will be divided into these 2 subgroups, with a minimum of
120 eyes in the second subgroup (34-73 letters).
f. Mean total retinal sensitivity in at least 1 eye as assessed by
microperimetry >=0.1 decibels (dB) and <=20 dB*
*Subjects enrolled under the previous version of the protocol are still
eligible for continuation in this study irrespective of their baseline total
retinal sensitivity in the study eye.
Exclusion criteria
a. Have a history of amblyopia in the eligible eye.
b. Have any other significant ocular or non-ocular disease/disorder which, in
the opinion of the investigator, may put the subject at risk because of
participation in the study, may influence the results of the study, may
influence the subject*s ability to perform study diagnostic tests, or impact
the subject*s ability to participate in the study. This includes clinically
significant cataracts.
c. Have participated in another research study involving an investigational
medicinal product in the past 12 weeks or received a gene/cell-based therapy at
any time previously (including but not limited to Intelligent Implant System
implantation, ciliary neurotrophic factor therapy, nerve growth factor
therapy).
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL63568.091.17 |