Gene therapy

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People diagnosed with inherited retinal disease (IRD) may be offered gene therapy, if they meet the eligibility criteria.

In 2020, the Therapeutic Goods Administration approved Luxturna® (voretigene neparvovec) for treating RPE65-associated IRD. RPE65 is one of more than 250 genes associated with IRDs. This therapy can slow the progression of vision loss and may help to recover part of a person’s vision.

Eligibility criteria

Luxturna® gene therapy is available at the Children’s Hospital at Westmead for children and adults. To obtain treatment, this eligibility criteria must be met.

  1. Clinical diagnosis of IRD
  2. Confirmed RPE65 genetic diagnosis
    • Confirmed biallelism for homozygous or compound heterozygous RPE65 pathogenic or likely pathogenic variants.
    • Pathogenicity must be assessed by a NATA or ILAC-accredited laboratory with expertise in testing for IRD, using the American College of Medical Genetics and Genomics Practice Guidelines.
    • Refer cases to the OcularGen MDT, if molecular genetic testing identifies clinically suspicious RPE65 variants of uncertain significance (VUS). For example, an RPE65 VUS identified in trans- with an established pathogenic or likely pathogenic RPE65 variant. This will help determine if the person is eligible for Luxturna®.
    • Confirm biallelism through segregation testing in informative family members.
    • If segregation testing isn’t possible, refer to the OcularGen MDT for further testing to see if the person is eligible for Luxturna®.
  3. Viable retinal tissue for treatment

Source: Children's Hospital at Westmead, Genetic Eye Clinic

Ocular Gene and Cell Therapies Australia

An Ocular Gene Therapies Service Delivery Model covering care, therapy and research has been developed by Ocular Gene and Cell Therapies Australia (OGCTA).

People meeting criteria I and 2 can be referred to OGCTA for assessment of criteria 3. Referrals are accepted from Australian residents. International referrals may be accepted upon enquiry.

Include in the referral:

  • ophthalmic diagnosis with relevant investigations, e.g. full-field electroretinography, perimetry, optical coherence tomography and fundus autofluorescence
  • molecular genetics report confirming biallelic RPE65 P/LP variants.

Send referrals to:

Professor Robyn Jamieson, Lead, Ocular Gene and Cell Therapies Australia
Clinical Genetics Department, Western Sydney Genetics Program
Children’s Hospital at Westmead, Sydney Children’s Hospitals Network
Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

Luxturna® gene therapy patient pathway

    If a consumer is identified with two pathogenic or likely pathogenic variants in the RPE65 gene, segregation will be done in family members to confirm baillelism. If its confirmed, the patient is referred to the Ocular Gene and Cell Therapies Centre Australia. An approved ophthalmologist will assess viable retinal cells. If there are viable cells, the person will be eligible for Luxturna, pharmacy treatments and surgery. If the original tests find no confirmed RPE65 biallelism, the patient is not eligible for Luxturna and is referred for clinical management. If the consumer has one pathogenic variant and one variant of uncertain significance identified in the RPE65 gene, they are referred to the OcularGen multidisciplinary team for more testing to check whether they are eligible for gene therapy.
    Adapted from the work of Laura Wedd, Prof Robyn Jamieson and Dr Alan Ma.

    Clinical trials

    Luxturna® is only available for people with RPE65-associated IRD but research for other types of retinal disease is ongoing and clinical trials are available. Check the Australian New Zealand Clinical Trials Registry or ClinicalTrials.gov for relevant trials.

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