Status:

RECRUITING

International CDKL5 Registry

Lead Sponsor:

University of Pennsylvania

Collaborating Sponsors:

Loulou Foundation

International Foundation for CDKL5 Research

Conditions:

CDKL5 Deficiency Disorder (CDD)

Eligibility:

All Genders

Brief Summary

Owing to the recent classification of CDKL5 Deficiency Disorder (CDD) as a unique disorder, there is a limited understanding of overall disease natural history and meaningful outcome measures. An inte...

Eligibility Criteria

Inclusion

  • Person of any age, living or deceased;
  • Be a patient or the legal guardian (parent or caregiver) of a patient with a diagnosis of CDD (Diagnoses must be confirmed by a clinician or genetic test);
  • Have the ability to understand and complete an informed consent process where applicable per local regulations or have a legal guardian to provide consent on the patient's behalf if the patient is under the legal age, per local regulations, or otherwise unable to provide consent.

Exclusion

  • Patient with a diagnosis of CDD who is under the legal age, per local regulations, enrolling without a legal guardian;
  • Legal guardian of a patient who is 1) over the legal age, per local regulations, and 2) is able to read and provide consent and enter data. (We require that patients over the legal age who are capable of reading and understanding and informed consent provide data directly.)

Key Trial Info

Start Date :

December 5 2018

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

December 31 2028

Estimated Enrollment :

500 Patients enrolled

Trial Details

Trial ID

NCT04486768

Start Date

December 5 2018

End Date

December 31 2028

Last Update

October 10 2025

Active Locations (1)

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1

University of Pennsylvania Orphan Disease Center

Philadelphia, Pennsylvania, United States, 19104