A Study to Establish a Registry for Niemann-Pick Disease Type A, B, and C


About this study

The purpose of this study is to establish the natural history of the 3 diseases - Niemann-Pick Type A, B, and C (their characteristics, management and outcomes).

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Laboratory confirmed diagnosis of Niemann-pick disease type A, B or C.
  • Ability to give written informed consent/assent.
  • Living or deceased subjects will be included.

Exclusion Criteria:

  • Participants or their legal guardian/legal representative are unwilling to give written informed consent.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status

Rochester, Minn.

Mayo Clinic principal investigator

Marc Patterson, M.D.

Closed for enrollment

More information


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