Vigil Neuroscience has introduced a new programme, referred to as ALSPAware, to offer no-cost genetic testing and counselling to diagnose adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
The CSF1R gene mutation causes ALSP – a rare, inherited, autosomal dominant neurological disease with high penetrance.
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InformedDNA coordinates the programme, which provides services to US residents aged 18 years and above.
The programme, which is designed with a focus on both patients and healthcare providers, offers a confirmatory test for a single gene for individuals with a family history of ALSP.
Furthermore, it offers a custom gene panel to physicians to diagnose adult-onset neurological diseases.
Trained genetic counsellors will extend their support in testing and discussing results.
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By GlobalDataVigil president and CEO Dr Ivana Magovčević-Liebisch said: “Limited access to genetic testing and appropriate counselling has led to diagnostic challenges affecting not only those living with ALSP but also the healthcare providers hoping to treat the disease.
“Only about one-third of people living with ALSP receive a correct diagnosis when symptoms first appear, resulting in a delay that can significantly increase the burden of this devastating genetic condition.”
“We believe that everyone deserves access to the services necessary to make the diagnostic journey as efficient and convenient as possible and we are proud to be taking this important step forward in supporting the ALSP community.”
Vigil is engaged in the development of treatments for both rare and common neurodegenerative diseases through the restoration of microglia vigilance.
