Active — Not RecruitingNot Applicable

Pyruvate Kinase Deficiency Global Longitudinal Registry

United States500 participantsStarted 2018-04-23

Plain-language 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 Registry will be open for enrollment for 7 years and all enrolled participants will be followed prospectively for a minimum of 2 years, and up to 9 years. Data will be collected from participating Registry Physicians, participants, and, where appropriate, parents/guardians who have provided informed consent or assent (where relevant) and authorization pursuant to applicable laws and regulations. Data should include demographic, clinical, and treatment data; and other data of relevance to the management of patients with PK deficiency. Annual chart review and data entry are expected in order to enhance longitudinal understanding of PK deficiency; however, no specific protocol schedule of assessment is required by this Registry protocol.

Who can participate

SexALL

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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.

What they're measuring

Clinical Course of PK Deficiency

Timeframe: 9 years

Trial details

NCT IDNCT03481738

SponsorAgios Pharmaceuticals, Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2027-05-31

View on ClinicalTrials.gov More Pyruvate Kinase Deficiency trials

Plain-language summary

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.