A Study Of Rare And Genetic Diseases

Overview

About this study

The purpose of this study is to improve our understanding of rare and genetic diseases by better understanding their underlying biological and genetic mechanisms, characterizing clinical phenotypes and disease progression, identifying relevant biomarkers, and informing the development of potential therapeutic strategies. Through comprehensive clinical and molecular data collection and evaluation, the study aims to advance knowledge of rare and genetic diseases to support future translational research.

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:

Group A: Affected Individuals (Rare or Genetic Disease Group)

  • Suspected or confirmed diagnosis of a rare or genetic disease based on clinical evaluation, molecular testing, family history, or other relevant findings.

  • Ability to provide informed consent (or have a legally authorized representative provide consent if the participant is a minor or unable to consent).

  • Willingness to participate in study procedures which may include biospecimen collection, data sharing including clinical data for research purposes, and participation in questionnaires.

  • All ages and sexes are eligible, including pediatric and adult participants.

Group B: Unaffected Individuals (Control Group)

  • No known personal history of the rare or genetic disease under study, or of a closely related condition.

  • May be a biological family member (e.g., parent, sibling) or an unrelated control, as appropriate to the study design.

  • Ability to provide informed consent (or have a legally authorized representative provide consent).

  • Willingness to participate in study procedures which may include biospecimen collection, data sharing including clinical data for research purposes, and participation in questionnaires.

  • All ages and sexes are eligible, including pediatric and adult participants.

Exclusion Criteria:

 Groups A and B (unless otherwise specified)

  • Inability or unwillingness to provide informed consent or assent, or lack of a legally authorized representative (if required).

  • Presence of a condition or situation that, in the opinion of the investigators, would make participation unsafe, impractical, or not in the best interest of the participant.

  • For the control group (Group B): any known diagnosis, symptoms, or genetic findings suggestive of a rare or inherited disease relevant to the study’s focus.

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

 

Eligibility last updated 08/11/2025. Questions regarding updates should be directed to the study team contact.

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

Margot Cousin, Ph.D.

Contact us for the latest status

More information

Publications

Publications are currently not available
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CLS-20598386

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