Biomarker Study: Metabolon

We are excited to be working with Metabolon on a biomarker study to help us move Pitt Hopkins research forward. We are looking for 30 families to help with this research project that will help us identify biomarkers for Pitt Hopkins. If you are interested, please see the details below!

Who:  30 individuals with Pitt Hopkins who live in the United States. Any age is accepted, but must have a confirmed genetic diagnosis of Pitt Hopkins syndrome.

What: This project includes getting a blood sample and stool sample from the individual with Pitt Hopkins syndrome. We are also looking for 30 siblings that would be able to give a stool sample as a control for the study.

When: Now! If you would like to participate, see details below on how to get started.

Where: Once consented by CombinedBrain, who will be helping us with the collections, a kit for the blood and stool sample will be sent to your home. Directions for the stool sample collection will be included and a phlebotomist will come to your home to do the blood draw.

Why: This research is important for helping us identify biomarkers for Pitt Hopkins. Biomarkers are extremely important for clinical trials as they give an objective, tangible marker for us to measure when trialling a drug. It is much more beneficial for approval to show that a certain drug increased a measurable hormone, neurotransmitter or metabolite, than to subjectively say our children “seem to be doing better.”

Step 1. Please send us an email at information@pitthopkins.org with the following information:

a. Participant First and Last name (individual with Pitt Hopkins)

b. Parent First and Last name

c. Parent email address

d. What are you ok with having collected: blood, stool, or both

Step 2. If you are willing to have a Pitt Hopkins sibling send a stool sample, please send the additional information:

a. Participant First and Last name (sibling)

b. Parent First and Last name

c. Parent email address

Step 3. Within the next 2 weeks, someone from CombinedBrain will be reaching out via email to set up the consent call. Once consented, collection kits will be mailed to you and the phlebotomist appointment will be scheduled.

You can reach us at information@pitthopkins.org with any additional questions you may have.

Thank you for your dedication to advancing research for Pitt Hopkins syndrome!

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