##  [Belfast Health and Social Care NHS Trust](/uk-en/about/partnerships/joint-working/belfast-health-and-social-care-nhs-trust "Belfast Health and Social Care NHS Trust") 

  Executive summary



  

**Project Name:** RPE65 Genetic screening Project (“Joint Working” or “JW”)

**Project Summary:**

Patients with IRDs suffer from a number of clinical manifestations and vision impairment due to an inherited gene mutation affecting the function of the retina. Included within this patient cohort, deletion or absence of RPE65 gene is among a number of causative genetic mutations responsible for conditions such as Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA), which is accountable for progressive and complete sight loss. Historic stratification of the known IRD cohort has been challenging due to the wide range of potential mutations occurring within a large number of genes. Furthermore, access to specific genetic panels (tests), including RPE65, is limited due to differences in reimbursement across the UK – currently NHS Northern Ireland do not have equivalent testing reimbursement for suspected cases compared to England – resulting in identification of genetic cause and RPE65 involvement remaining largely unknown and in any event, not identified across the wider Northern Ireland patient population.

Historically, no treatment has been available to treat or manage the deterioration of vision due to genetic cause and as a result patients with IRDs have largely been solely managed with measures to support poor/low vision without access to disease modifying therapies. The result is poor visual outcomes and impairments to quality of life.

It is expected that the prevalence of patients with confirmed bailletic RPE65 mutations in the UK to be 1.2% of RP/LCA population, which represents 86 patients affected by biallelic RPE65 mutation; within Northern Ireland this is expected to be 1-2 patients.

The aim of this JW is to screen the Inherited Retinal Disease (IRD) population of Northern Ireland to identify patients with biallelic RPE65-mutations. From this cohort, patients will either be eligible for treatment or will be further classified and considered for further investigation

**Planned Milestones:**

MilestoneResponsible PartyDescriptionPlanned Completion**1**Novartis Project Team and BHSCT   
Project Team (Minimum quorate)Kick-off meeting held with key stakeholders to discuss   
and agree project plan (Blueprint contract set-up completed)Date of execution**2**BHSCT Project Team; Consultant  
Ophthalmologist; Administration LeadCollection of baseline data and set up of patient identification   
and management protocols-procurement and set-up of samples   
+ logistics. Confirm readiness to initiate testingDate of execution + 1 month**3**BHSCT Project Team; Consultant  
Ophthalmologist; Administration LeadReconciliation of month 1-3 months IRD testingDate of execution + 3 months**4**BHSCT Project Team; Consultant  
Ophthalmologist; Administration Lead;  
Consultant in Molecular GeneticsReconciliation of months 1-3 months Familial testing +   
procurement of sampling kits + reconciliation of Travel   
expenses support fundDate of execution + 6 months**5**BHSCT Project Team; Consultant  
Ophthalmologist; Administration LeadCollection and analysis of 6-month data - and reconciliation   
of 4-6 months IRD testing

Date of execution + 6 months**6**BHSCT Project Team; Consultant  
Ophthalmologist; Administration Lead;  
Consultant in Molecular GeneticsReconciliation of months 4-6 months Familial testing +   
procurement of sampling kitsDate of execution + 9 months**7**BHSCT Project Team; Consultant  
Ophthalmologist; Administration Lead;  
Consultant in Molecular GeneticsCollection and analysis of Familial (FVT testing)Date of execution + 10 months**8**BHSCT Project Team; Consultant  
Ophthalmologist; Consultant  
in Molecular GeneticsWrite up methodology and case studyDate of execution + 12 months**Expected Benefits:**

List of benefits to the Patients:

- Improved awareness and clarification of molecular cause of patient’s visual impairment;
- Potential for improved future treatment / management options for patients entered into further clinical studies; and
- Improved potential for eligible patients to enter into NICE approved therapy giving rise to potential for improved vision and reduction of risk of vision loss.

List of benefits to the NHS:

- Improved understanding of genetic mutations within the IRD population;
- Potential identification of patients eligible for treatment;
- Identification of new patient cohorts for further genetic clinical study;
- Improved reputation of Ophthalmology and molecular genetics services for IRD patient management; and
- Potential publication in outcomes of prospective screening.

List of benefits to Novartis:

- Improved reputation for Novartis nationally and internationally;
- Potential identification of patients eligible for treatment with NICE approved therapy; and
- Improved partnership alignment with the JWP

**Start Date and Duration:** June-2022, 12 months from date of execution of contract.

06-May-2022

458087



 

 

 



 



 Outcomes summary



  

**Project Name:** RPE65 Genetic screening Project (“**Joint Working**” or “**JW**”)

**Partner Organisation(s):** **Belfast Health and Social Care NHS Trust** (BHSCT), A Floor, Belfast City Hospital, Lisburn Road, BT9 7AB (the “**JW Partner**” or “**JWP**”)

**Completion Date:** 31st December 2023

**Outcome Summary:**

This Joint Working Project screened the Inherited Retinal Disease (IRD) patient population of Northern Ireland to identify patients with biallelic RPE65-mutations. From this cohort, patients were either eligible for treatment or further classified and considered for further investigation.

**Key Project Outcomes Data:**

Our collaboration resulted in the screening/testing of 268 patients for RPE65.

**Outcomes:**

The outcomes resulting from the screening of the 268 patients were:

- Buccal Sample Collection Kit (Retinal Dystrophy Panel) - 231 patients.
- Large Panel (Retinal Dystrophy Panel) - 231 patients.
- Buccal Sample Collection Kit (Familial Variant Testing) - 37 patients
- Familial Variant Testing (Familial Variant Testing) - 37 patients
- Saliva Sample Collection Kit (Retinal Dystrophy Panel) - 1 patients

**Quote from Partner:**

*“The opportunity provided by the Novartis-BHSCT collaboration has provided an exceptional opportunity to perform comprehensive genetic analysis for the patients with IRD in the Northern Ireland population which would otherwise not have been possible. Unfortunately no cases of biallellic RPE 65 variants were found however the genotypic profiles from the study will place patients in NI at significant advantage for therapies in the future.”*

**Professor Silvestri, Belfast Health and Social Care NHS Trust**

**Conclusion:**

The Joint Working Project for the screening the Inherited Retinal Disease (IRD) patient population of Northern Ireland to identify patients with biallelic RPE65-mutations successfully identified 268 patients, which have been further classified as outlined in outcomes above.

FA-11484407 | November 2025