UCSF Center for Genome Surgery Biobank and Registry

August 27, 2026 updated by: University of California, San Francisco
Gene editing approaches (including but not limited to: CRISPR, LNP, AAV, RNAi etc.) for the medical specialty of interventional genomics require (1) determination of the clinical relevance of genomic variants and (2) systematic evaluation of the 'editability' of those variants. Here, we seek to use in silico and in vitro analyses of genomic, cellular, and clinical data/specimens to (1) identify novel pathogenic variants underlying diseases and (2) examine the specificity and efficacy of various gene editing components across the entire human genomic landscape.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

10000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • California
      • San Francisco, California, United States, 94143
        • Recruiting
        • University of California, San Francisco
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Any individual diagnosed with a genetic disorder that may be amenable to gene therapy.

Description

Inclusion Criteria:

For initial screening and discussion at huddle call:

  • Male and female individuals of any age, including pregnant women and their fetuses at any gestational age.
  • Self-referred or referred through their provider to the UCSF Center for Genome surgery/Interventional Genomics Board for a condition that is genetic or suspected to be genetic in origin.
  • UCSF patient OR consents to allow for their case to be presented at the IGB huddle.

For enrollment into registry or biobanking:

  • Any above participant that the IGB agrees would be appropriate for enrollment in the registry and biobanking portion of this protocol OR Any male or female family member of any age of someone enrolled in the registry and biobanking portion of this protocol.
  • Provides informed consent for participation in the registry and biobanking portion of the protocol.

Exclusion Criteria:

For initial screening and discussion at huddle call:

  • Individuals who have previously been discussed by the IGB and determined to not be appropriate to move forward into the registry and biobanking portion of the protocol, unless new information related to their case may change the initial assessment.
  • Individuals who are not impacted by a genetic or suspected genetic condition.

For enrollment into registry or biobanking:

-Any participant that the IGB agrees is inappropriate for enrollment in the registry and biobanking portion of this protocol.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Center for Genome Surgery Case Series Discussion
Enrollment in Registry and Biobank

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Improve our understanding of how specific mutations lead to dysfunction and cause disease
Time Frame: Up to 25 years
Up to 25 years
Empirically assess the edibility of individual participant genomic variants in silico and in patient-derived cells for the purpose of bespoke genomic therapies.
Time Frame: Up to 25 years
Up to 25 years

Other Outcome Measures

Outcome Measure
Time Frame
Support preclinical investigations of gene therapies specific to participants
Time Frame: Up to 25 years
Up to 25 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of California, San Francisco

Investigators

  • Principal Investigator: Tippi Mackenzie, MD, University of California, San Francisco

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 1, 2026

Primary Completion (Estimated)

December 1, 2050

Study Completion (Estimated)

December 1, 2050

Study Registration Dates

First Submitted

October 7, 2025

First Submitted That Met QC Criteria

February 3, 2026

First Posted (Actual)

February 9, 2026

Study Record Updates

Last Update Posted (Actual)

September 1, 2026

Last Update Submitted That Met QC Criteria

August 27, 2026

Last Verified

August 1, 2026

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • UCSF_CGS_Biobank_Registry

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

De-identified specimens and data may be shared with other researchers

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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