An observational study in Genetic Conditions and Genetic Disorders, sponsored by University of California, San Francisco. Enrolling by invitation at 1 site in United States. Open to participants aged 2 Years and older. Per ClinicalTrials.gov, last updated 2026-10-02.
Sponsored by University of California, San Francisco · Observational
Help build ClinicalTrials.gg — short surveys, remote interviews or testing, in your language. Take part →
Among 296 studies in Genetic Diseases, Inborn with a site in United States — 64 open to participants now, 99 under way, 14 of them phase 3. Genetic Diseases, Inborn · United States.
Among the 296 studies in Genetic Diseases, Inborn with a site in United States, this one is the 56th largest by planned enrollment of the 111 observational ones that give a count, is one of 10 that started in 2025, is one of 115 observational ones, reaches primary completion later than 36 of the 92 other live ones, and was the 294th registered.
583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.
Browse Genetic Diseases, Inborn studies →64 of the 296 studies in Genetic Diseases, Inborn with a site in United States are open now. Recruiting first, the newest first:
Arrowhead Pharmaceuticals · Sites in United States, Denmark, Poland
Ages 12–17
Dyne Therapeutics · Sites in United States
Ages 4–18 · Men only
Rocket Pharmaceuticals Inc. · Sites in United States, Netherlands
Ages 12+
Grifols Therapeutics LLC · Sites in United States, Denmark, Germany and 6 more countries
Ages 18–80
BioMarin Pharmaceutical · Sites in United States, Australia, Canada and 6 more countries
Ages 2–17
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 120 Genetic Diseases, Inborn studies recruiting now, 60 (50%) set no upper age limit and 45 (38%) stop at 75 or younger; 85 take children under 18; 28 take healthy volunteers.
This study: 2 Years and older · all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
296 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 41 · Phase 2 71 · Phase 3 48 · Phase 4 3
First in 1979; this study’s year is marked. 10 started in 2025.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 100 is below the median of 151 across 239 observational studies indexed under Genetic Diseases, Inborn.
Median enrollment 56 across the 165 interventional studies, 100 across the 111 observational. Of the 178 that completed or were terminated, 63 (35%) have results posted.
This tab as a report to print or save as PDF → With an account.
125 of 296 have an industry lead sponsor. The 10 most frequent:
University of California, San Francisco is the lead sponsor of 2,170 studies on the registry; 370 are open to participants now.
Of its 268 completed or terminated interventional studies of FDA-regulated products, 203 (76%) have results posted.
University of California, San Francisco has 1 study filed under Genetic Diseases, Inborn — fewer than ten, so there is no comparison to draw.
25 of the studies in Genetic Diseases, Inborn with a site in United States that are under way reach primary completion within a year, 4 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06873035Phase 3QED Therapeutics, a BridgeBio companyAn Interventional Study of Infigratinib in Children With Hypochondroplasia | 2027-01 |
| NCT05477563Phase 3Vertex Pharmaceuticals IncorporatedEvaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease | 2027-06-09 |
| NCT07555483Phase 3Grifols Therapeutics LLCA Non-inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Doses of Weekly SC Alpha1-PI 15% Compared With Corresponding Standard IV Alpha1-PI in Participants With Alpha1-Antitrypsin Deficiency (AATD) | 2027-09-30 |
| NCT05356195Phase 3Vertex Pharmaceuticals IncorporatedEvaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT) | 2027-11-14 |
| NCT05095727ModernaTX, Inc.A Study of mRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a) | 2026-11-30 |
Add all 25 to your calendar (.ics) → With an account.
Among the 296 studies in Genetic Diseases, Inborn with a site in United States, from their registry updates:
This tab as a report to print or save as PDF → With an account.
The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared to gene sequencing alone. Participants will be asked to share their medical history and prior genetic testing results, and to donate a blood sample for testing.
Participant will come on site for a one-time blood draw. Study personnel will review prior medical history, family history, and prior genetic testing results gathered from the participant's medical record, along with analysis of RNA sequencing results derived from participant's blood sample. Results will be shared with participants through their clinical geneticist.
Patients seen by the division of Medical Genetics
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Individuals who have previously undergone gene panel testing, WES or WGS with no diagnostic findings but with high suspicion for a genetic etiology
Device: RNA sequencing
Individuals who have undergone genetic testing and who are found to have a truncating variant classified as pathogenic in a disease-causing gene but lack many/all symptoms typically associated with the disorder
Device: RNA sequencing
Total RNA will be isolated from blood samples, processed, and analyzed to compare the RNA-Seq profile of each participant.
RNA analysis supports that the gene variant impacts gene expression
RNA-Seq analysis shows that the gene variant of interest impacts the gene expression with either a decreased expression, increased expression, alternative splice product, or other.
Time frame: From analysis of RNA-Seq data to finalized summary of research results (up to 1 year)
Results add value to the diagnostic process
Clinical geneticist will complete a survey to indicate if they found that the research results added value to the diagnostic process.
Time frame: From clinical geneticist receiving research results to share with participant to the completion of survey (up to 3 months)
Plan to share: No
No publications or documents are linked to this record.
Started Aug 2025 (actual). Primary completion is estimated for Jun 2027, 22 months after the start.
Of 94 non-industry observational studies under Genetic Diseases, Inborn, half reached primary completion within 124 months of starting (the median), counting those still running; a quarter within 46. This study's planned 22 months is below that.
Counting every sponsor, half of 128 studies reached it within 110 months; a quarter within 46 and three quarters within 193.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
University of California, San Francisco →