UCSF Center for Genome Surgery Biobank and Registry | NCT07396285

Studies
UCSF Center for Genome Surgery Biobank and Registry

NCT07396285

Sponsor

University of California, San Francisco

Status

Not yet recruiting

Last Update Posted

Feb 9, 2026Actual

Enrollment

10,000Estimated

Phase

Not provided

Conditions

Any Conditions That Are Genetic or Suspected to be Genetic in Origin

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Feb 2026

Overall Recruitment Status or Expanded Access Status

Not yet recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

May 1, 2026Estimated

Primary Completion Date

Dec 2050Estimated

Completion Date

Dec 2050Estimated

First Submitted Date

Oct 7, 2025

First Submission Date that Met QC Criteria

Feb 3, 2026

First Posted Date

Feb 9, 2026Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Feb 3, 2026

Last Update Posted Date

Feb 9, 2026Actual

Description Module

Brief Summary

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

10 Years

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

10,000Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Improve our understanding of how specific mutations lead to dysfunction and cause disease		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.		Up to 25 years

Secondary Outcomes

Not provided

Other Outcomes

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

Eligibility Module

Eligibility Criteria

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.

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Name	Role	Phone	Extension	Email
Emma Canepa	Contact	(415) 476-7255		Emma.Canepa@ucsf.edu

Name	Affiliation	Role
Tippi Mackenzie, MD	University of California, San Francisco	Principal Investigator

Facility	Status	City	State	ZIP	Country	Contacts
University of California, San Francisco		San Francisco	California	94143	United States

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
25513782	Background	Tsai SQ, Zheng Z, Nguyen NT, Liebers M, Topkar VV, Thapar V, Wyvekens N, Khayter C, Iafrate AJ, Le LP, Aryee MJ, Joung JK. GUIDE-seq enables genome-wide profiling of off-target cleavage by CRISPR-Cas nucleases. Nat Biotechnol. 2015 Feb;33(2):187-197. doi: 10.1038/nbt.3117. Epub 2014 Dec 16.
32541958	Background

Label	Type	Description	Intervention Names
Center for Genome Surgery Case Series Discussion
Enrollment in Registry and Biobank