Illumina and The Children’s Hospital of Philadelphia Work to Conquer Leukodystrophies

January 18, 2017

LeukoSEQ will study whole genome sequencing as diagnostic tool for rare disorders
Next-generation sequencing (NGS) technologies have the potential to revolutionize the diagnostic process for rare diseases, especially those such as the leukodystrophies, which have seen historically low rates of diagnosis. Illumina and The Children’s Hospital of Philadelphia are currently recruiting participants for a new study called LeukoSEQ, which aims to diagnose leukodystrophies using whole genome sequencing (WGS).
Leukodystrophies are rare genetic disorders with primary white matter abnormalities in the central nervous system. These disorders – thought to occur in approximately 1 in 7,000 births – remain a diagnostic challenge for clinicians because of their complex clinical presentations and diverse etiologies. The LeukoSEQ study is designed to evaluate the efficacy and clinical utility of WGS testing as a first line diagnostic tool for leukodystrophies.
While there have been significant advances in diagnostic technologies over the past decade, standard biochemical, genetic and neuroimaging diagnostic techniques are still unable to provide definitive diagnoses for a significant portion of leukodystrophy patients. The LeukoSEQ study may help shed some light on these rare diseases.
The study investigators anticipate that immediate NGS, and specifically WGS, will result in a greater percentage of definite diagnoses than current diagnostic approaches, with a significantly shorter time to diagnosis. The investigators also expect that NGS will occasionally result in a molecular diagnosis where no diagnosis would have been achievable using current diagnostic approaches.
All study participants will receive results of CLIA-certified WGS, performed free of charge at Illumina’s Clinical Services Laboratory in San Diego, within six months of enrollment. Eligible candidates must have undiagnosed abnormalities of the white matter of the brain, with an “index MRI” (i.e. first suspicious MRI) performed no more than two months prior to study referral. The study team will review medical records and radiology images to confirm study eligibility prior to enrollment. The study is open to all residents of the United States. No site visit is required to participate in the study; blood samples will be obtained locally via the referring physician or primary care provider.
For more information on the LeukoSEQ study and eligibility requirements, or to refer an eligible candidate, please contact study coordinator Omar Sherbini at [email protected] or (215) 590-2575.

Stay Connected

Sign up for updates straight to your inbox.