TECPR2 Observational Study

Completed

Conditions studied: TECPR2

In brief

The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.

Key facts

Study ID

NCT04485221

Run by

University of Florida

People needed

5

Starts

2021-01-20

Expected to finish

2023-08-17

Last updated by the study team

2023-09-11

Who can join

Age: 2 and older, up to 12. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Written informed consent (and assent where appropriate) before any study procedures take place;
• Male or female;
• 18 months to 12 years old, at enrollment; and
• Have a diagnosis of TECPR2-Related disorder, as defined by biochemical criteria AND/OR genetic mutation analysis, AND demonstrate clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.

You may not qualify if…

• Subject is unable to comply with study requirements; or
• Have any other concurrent condition that, in the opinion of the investigator, would make the subject unsuitable for the study.

Where it is running

• Jenna Lammers — Gainesville, Florida, United States

Full record on ClinicalTrials.gov

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