A Study to Establish a Rare Diseases Registry for Niemann-Pick Disease Types A, B and C


About this study

The purposes of this study are to establish the natural history of the 3 diseases including their characteristics, management and outcomes; to assess clinical effectiveness of management and quality of care; to provide an inventory of patients for recruitment to interventional studies; to establish genotype-phenotype correlations; and to support post marketing obligations for approved therapies.

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.
  • Living or deceased subjects will be included.

Exclusion Criteria: 

  • Participants or their legal guardian/legal representative are unwilling to give 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 Contact

Rochester, Minn.

Mayo Clinic principal investigator

Marc Patterson, M.D.

Contact us for the latest status

Contact information:

Sarah Bohlen B.S.

(507) 293-7485


More information


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