The NeurOmics and CTSR PhenoSearch tool now has six cases looking for phenotypic matches
As part of the NeurOmics project, the Care and Trial Site Registry (CTSR) has recently been expanded to include clinical centres specialising in neurodegenerative as well as neuromuscular conditions. This resource now includes 314 expert centres seeing more than 50,000 patients worldwide. As well as helping the pharmaceutical industry and clinical investigators select trial sites and identify potential partners for upcoming research projects, the CTSR also now offers a phenotype ‘matchmaking’ service called PhenoSearch.
Resulting from activities within the NeurOmics project, PhenoSearch allows clinicians to post details of unusual, unsolved cases for which they are trying to find a phenotypic match. These cases are then available to registered members of the CTSR when they log-in. An email alert service highlights when new cases are posted.
PhenoSearch has a wide reach via the CTSR across the globe in the search for phenotypic matches and second families. The information it captures is descriptive, easy to access and will usually include photos to support the clinical description.
There are currently 6 cases which are live on the system and full details for each can be downloaded from the CTSR site. The titles of these cases are:
• Distal hereditary motor neuropathy with early onset cranial nerve palsy with strong candidate gene by WES.
• Distal spinal muscle atrophy and ataxia with cerebellar atrophy; new phenotype of a rare known disease gene.
• Distal myopathy. Slowly progressive muscle weakness.
• Myopathy, arthrogryposis, severe constipation, central apnoea requiring nasal oxygen overnight.
• Autosomal dominant myopathy with external opthalmoplegia and contractures.
• Childhood myopathy with muscle hypertrophy, lipodystrophy and scoliosis.
Please visit the Care and Trial Site Registry to access PhenoSearch, view the current cases or upload one of your own. If you need help logging on or would like to set up a new account, please contact Kirsten König (firstname.lastname@example.org).