Status:

ACTIVE_NOT_RECRUITING

Pyruvate Kinase Deficiency Global Longitudinal Registry

Lead Sponsor:

Agios Pharmaceuticals, Inc.

Conditions:

Pyruvate Kinase Deficiency

Eligibility:

All Genders

Brief Summary

This study is an observational (ie, noninterventional), longitudinal, multicenter, global registry for patients with pyruvate kinase (PK) deficiency, a rare nonspherocytic hemolytic anemia. This Regi...

Detailed Description

Data will be submitted to the Registry via electronic case report forms (eCRFs). Relevant datasets, such as historical trial data, claims, medical records, or central lab data will be electronically i...

Eligibility Criteria

Inclusion

  • Inclusion Criteria:
  • Participants of all ages with a confirmed diagnosis of PK deficiency via genetic testing are eligible to enroll;
  • Participants will be considered for enrollment on the basis of clinical features consistent with PK deficiency together with the presence of 2 or more PKLR gene mutations. For novel or indeterminate PKLR gene mutations, participants will be deemed eligible if, in the opinion of the investigator, the reported PKLR gene mutations are sufficient to support a diagnosis of PK deficiency;
  • The participant or the parent/guardian of the participant must be willing and able to give written informed consent and/or assent. E-consent or remote consent may be utilized where permissible as applicable if country regulations and site policies allow.

Exclusion

    Key Trial Info

    Start Date :

    April 23 2018

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ACTUAL

    End Date :

    May 31 2027

    Estimated Enrollment :

    500 Patients enrolled

    Trial Details

    Trial ID

    NCT03481738

    Start Date

    April 23 2018

    End Date

    May 31 2027

    Last Update

    December 31 2025

    Active Locations (52)

    Enter a location and click search to find clinical trials sorted by distance.

    Page 1 of 13 (52 locations)

    1

    Phoenix Childrens Hospital

    Phoenix, Arizona, United States, 85016

    2

    Arkansas Children's Hospital

    Little Rock, Arkansas, United States, 72202

    3

    University of Arkansas for Medical Sciences

    Little Rock, Arkansas, United States, 72205

    4

    Children's Hospital of Orange County

    Orange, California, United States, 92868