Patient Registry

Following the advice of clinicians and researchers, we have collaborated with Coordination of Rare Diseases at Sanford (CoRDS) to create a patient registry that collects data on the symptoms of our genetic conditions. This step is  critical to understand the full spectrum of the rare NUS1 genetic condition and how it progresses.

 

Our Patient Registry is combined with DHDDS. Since, DHDDS and NUS1 share clinical phenotypes because of their connection in the metabolic pathway, the questions within the registry questionnaire pertain to both rare disorders.

 

​This is the first major step in supporting a single data collection site for our rare conditions.  This registry is vital information for clinicians and specialty researchers looking to cure and treat the symptoms of our 2 genetic variants. As our patient group grows, this registry will become invaluable to doctors and researchers who perhaps have never heard of DHDDS or NUS1. 

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Using a shared patient registry questionnaire for NUS1 and DHDDS genetic variants helps streamline data collection, enhances research collaboration, and improves understanding and management of these rare genetic conditions.​ 

 

The link below takes you to the initial activation form on the CoRDS site, followed by a questionnaire that has been generated from NUS1 and DHDDS families in consultation with scientific advisory teams. 

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**We understand that NUS1 genetic disorders are reported worldwide. The patient registry questionnaire is currently written in English. If you are in need of translation services, please send the foundation an email.

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