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This registry study observes patients with pyruvate kinase deficiency over time to gather information about how the disease progresses. It includes patients of all ages with genetically confirmed PKLR gene mutations. This is a non-phase registry study and is active but not currently recruiting participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
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Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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.