Any Conditions That Are Genetic or Suspected to be Genetic in OriginNCT07396285
UCSF Center for Genome Surgery Biobank and Registry
An observational study of Any Conditions That Are Genetic or Suspected to be Genetic in Origin, run by University of California, San Francisco at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Any Conditions That Are Genetic or Suspected to be Genetic in Origin
- How many people
- 10,000 participants
- Where
- 1 siteUnited States
- Study dates
- 1 May 2026to Dec 2050
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Any individual diagnosed with a genetic disorder that may be amenable to gene therapy.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of California, San Francisco
San Francisco, California, 94143
Emma Canepa, 415-476-7255, Emma.Canepa@ucsf.edu
About this study
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.
- Keywords
- Genetic, gene therapy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Center for Genome Surgery Case Series Discussion | Not described | |
| Enrollment in Registry and Biobank | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Improve our understanding of how specific mutations lead to dysfunction and cause disease
Measured: 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.
Measured: Up to 25 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Feb 2026
- Study start1 May 2026
- Primary completionDec 2050 (estimated)
- Study completionDec 2050 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Any Conditions That Are Genetic or Suspected to be Genetic in OriginStudies of the same condition, open and under way.
- More trials run by University of California, San FranciscoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 10,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- University of California, San Francisco
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Tippi Mackenzie, MD, Principal investigator, University of California, San Francisco
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07396285
- Sponsor's protocol ID
- UCSF_CGS_Biobank_Registry
- Status last verified
- Aug 2026
- First submitted
- 7 Oct 2025
- Last updated
- 1 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: De-identified specimens and data may be shared with other researchers
Publications
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.
PubMed 25513782Lazzarotto CR, Malinin NL, Li Y, Zhang R, Yang Y, Lee G, Cowley E, He Y, Lan X, Jividen K, Katta V, Kolmakova NG, Petersen CT, Qi Q, Strelcov E, Maragh S, Krenciute G, Ma J, Cheng Y, Tsai SQ. CHANGE-seq reveals genetic and epigenetic effects on CRISPR-Cas9 genome-wide activity. Nat Biotechnol. 2020 Nov;38(11):1317-1327. doi: 10.1038/s41587-020-0555-7. Epub 2020 Jun 15.
PubMed 32541958Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. Am J Hum Genet. 2016 Oct 6;99(4):877-885. doi: 10.1016/j.ajhg.2016.08.016. Epub 2016 Sep 22.
PubMed 27666373
Study at a glance
From the registry record, last updated by the sponsor on 1 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- UCSF Center for Genome Surgery Biobank and Registry
- ClinicalTrials.gov ID
- NCT07396285
- Acronym / sponsor ID
- UCSF_CGS_Biobank_Registry
- Keywords
- Genetic, gene therapy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 10,000 participants (estimated)
- Lead sponsor
- University of California, San FranciscoUniversity, hospital or other
- Study start
- 1 May 2026 (actual)
- Primary completion
- Dec 2050 (estimated)
- Study completion
- Dec 2050 (estimated)
- First posted
- 9 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Other
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Center for Genome Surgery Case Series Discussion | – | – |
| Enrollment in Registry and Biobank | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Any individual diagnosed with a genetic disorder that may be amenable to gene therapy.
Key inclusion criteria (7 listed)
- 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.
- 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.
Key exclusion criteria (5 listed)
- 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.
- -Any participant that the IGB agrees is inappropriate for enrollment in the registry and biobanking portion of this protocol.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Sep 2026.
- Background: PubMed 25513782Tsai 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.
- Background: PubMed 32541958Lazzarotto CR, Malinin NL, Li Y, Zhang R, Yang Y, Lee G, Cowley E, He Y, Lan X, Jividen K, Katta V, Kolmakova NG, Petersen CT, Qi Q, Strelcov E, Maragh S, Krenciute G, Ma J, Cheng Y, Tsai SQ. CHANGE-seq reveals genetic and epigenetic effects on CRISPR-Cas9 genome-wide activity. Nat Biotechnol. 2020 Nov;38(11):1317-1327. doi: 10.1038/s41587-020-0555-7. Epub 2020 Jun 15.
- Background: PubMed 27666373Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. Am J Hum Genet. 2016 Oct 6;99(4):877-885. doi: 10.1016/j.ajhg.2016.08.016. Epub 2016 Sep 22.
- Individual participant dataSharing planned: Yes. De-identified specimens and data may be shared with other researchers
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Tippi Mackenzie, MD principal investigator
University of California, San Francisco
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Any Conditions That Are Genetic or Suspected to be Genetic in Origin, run by University of California, San Francisco at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Emma Canepa ((415) 476-7255, Emma.Canepa@ucsf.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Improve our understanding of how specific mutations lead to dysfunction and cause disease (time frame: Up to 25 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07396285, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Sep 2026.