NCT07396285 · University of California, San Francisco
UCSF Center for Genome Surgery Biobank and Registry
What this study is about
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.
View original scientific description
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.
Primary outcome measures
Improve our understanding of how specific mutations lead to dysfunction and cause disease
Time frame: 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
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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.
Where
- San Francisco, California
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Sep 1, 2026 · Source of record for eligibility and locations