Value Proposition:
· Diagnostic target for broad primary dysautonomia screening.
· Broadly applicable therapeutic target for symptom relief in primary and secondary dysautonomia patients.
Technology Description
Researchers at Johns Hopkins have identified a potential diagnostic and therapeutic target for patients with primary dysautonomia. Use of small molecule modulators against the identified target have resolved many patient symptom complaints.
Unmet Need
Dysautonomia is a disease of the autonomic nervous system (ANS) with heterogenous etiology and presentation. Patient heterogeneity makes diagnosis and treatment of dysautonomias challenging. While familial dysautonomia (FD) is a rare genetic disorder, the genetic and epigenetic basis of dysautonomia is unknown for the majority of patients. Currently, patients with dysautonomia are evaluated and diagnosed based on clinical history, timeline, and neurological examination. Diagnosis informs treatment; however, treatment is often limited to lifestyle modifications and pharmacological interventions that are limited in scope. Therefore, there is a strong need for a better understanding of the genetic and epigenetic basis of dysautonomia to develop new diagnostic and therapeutic options for this broad patient population.
Stage of Development
· Pre-clinical studies have been completed.
· In vitro models incorporating target mutations have been developed.
· Validated animal models of autonomic dysfunction have been developed.
· Looking for partners to sponsor dysautonomia clinical trial to confirm genetic and epigenetic targets through clinical trial.
· Looking for partners to develop and/or validate personalized dysautonomia therapeutics for genetic and epigenetic targets confirmed through clinical trials.
Publication
1. de Cássia Collaço, Rita, et al. "Anxiety and dysautonomia symptoms in patients with a NaV1. 7 mutation and the potential benefits of low-dose short-acting guanfacine." Clinical Autonomic Research (2023): 1-11.
