The PHRF has partnered with CoRDS to provide a registry for Pitt Hopkins syndrome. This registry is very important for many reasons. It helps us gather information for research, documents a natural history of PTHS, creates a central resource for researchers for more rapid recruitment of research participants, helps us to get an overall better picture of Pitt Hopkins syndrome and helps us connect with families!

Please note, even if you have filled out the registry we had on our website (prior to June 2018), you will need to fill this out again. We apologize for this inconvenience. It is important for us to have all the information on one platform.

Helpful note – You may find it helpful to find the following information before starting this questionnaire, to help answer questions:

1) genetic report (digital copy to upload at the end of the registry–this is optional, not required)

2) study records such as MRI, sleep study, mitochondrial results

3) developmental records about diagnosed conditions such as ataxia, hypotonia, developmental delay, etc., and

4) medical records including list of medications being taken

With this information in hand, the questionnaire should take roughly 45 minutes.

We recommend using a computer (not mobile device) and the browser Google Chrome, as this is what the registry works best on.

Just need to update your registry? Visit here to login and provide the latest information. Please email cords@sanfordhealth.org with any questions.

Thank you!

NOTE: If you are not sure if you have filled out the registry yet or not, please email cords@sanfordhealth.org and they will be able to give you this information.