Biobanking of Rett Syndrome and Related Disorders

Plain-language summary

This study aims to build a biobank by collecting biological samples from individuals with Rett syndrome and related disorders. People of all ages with Rett syndrome, MECP2 duplication, or changes in the CDKL5 and FOXG1 genes, along with unaffected family members, could take part. It was carried out as a trial without an assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

University of Alabama at Birmingham

Start date

9/1/2017

Estimated completion

7/31/2021

Countries

United States

Related genes

Locations

• Birmingham, United States
• Oakland, United States
• San Diego, United States
• Denver, United States
• Chicago, United States
• Boston, United States
• Minneapolis, United States
• St Louis, United States
• Philadelphia, United States
• Greenwood, United States
• Nashville, United States
• Houston, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Individuals of both genders and of all ages, with RTT, MECP2 Dup, and, RTT-related disorders including those with mutations or deletions in CDKL5 and FOXG1 genes, or those with RTT (atypical or typical) who are mutation negative. Additionally, unaffected family members of those people who meet the disease specific criteria stated will eligible.

Exclusion Criteria:

* Individuals who do not meet the above criteria will be excluded.