Feature Request: ClinicalTrials.gov Data Integration Module
Problem Statement
Currently, seqr excels at variant annotation, prioritization, and interpretation for rare disease genomics. However, once a candidate variant/gene is identified for a rare disease (e.g., Huntington's disease), there is no built-in way to bridge the gap from genomic finding to actionable treatment options — namely, what clinical trials are recruiting for that disease.
Proposed Solution
Add a Clinical Trials Data Module to seqr that:
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Gene/Disease → Trial Lookup: Given a gene symbol or disease name (e.g., HTT / Huntington's disease), automatically query ClinicalTrials.gov (via their API) to surface actively recruiting trials.
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Trial Summary Cards: Display key trial information inline:
- NCT ID, title, phase, sponsor, enrollment count
- Recruitment status (with color coding)
- Locations (with geo-distance from patient if configured)
- Intervention type (drug, gene therapy, ASO, etc.)
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Saved Trial Watchlists: Allow users to bookmark trials of interest per project/family, with notification when trial status changes.
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Optional – Genotype Matching: For trials with genetic inclusion criteria (e.g., CAG repeat length for Huntington's), flag whether the patient's genotype matches eligibility.
Use Case
A clinical analyst using seqr identifies a pathogenic HTT expansion in a rare disease patient. With this module, they could immediately see that NCT07536061 (SRP-1005, a first-in-human ASO for Huntington's, Phase 1, recruiting) is available — without leaving the seqr interface.
Why This Fits seqr
seqr is already the bridge between raw genomics and clinical interpretation. Adding clinical trial awareness makes seqr a true bench-to-bedside platform for rare disease. This aligns perfectly with the mission of the Broad Institute's Center for Mendelian Genomics and the rare disease community.
References
- ClinicalTrials.gov API v2: https://clinicaltrials.gov/data-api/api
- Example trial: NCT07536061 — "A First-in-human Study of the Effects of SRP-1005 in Participants With Huntington's Disease" (Sarepta Therapeutics, Phase 1, recruiting as of 2026)
Happy to help spec this out further or contribute a proof-of-concept!
Feature Request: ClinicalTrials.gov Data Integration Module
Problem Statement
Currently, seqr excels at variant annotation, prioritization, and interpretation for rare disease genomics. However, once a candidate variant/gene is identified for a rare disease (e.g., Huntington's disease), there is no built-in way to bridge the gap from genomic finding to actionable treatment options — namely, what clinical trials are recruiting for that disease.
Proposed Solution
Add a Clinical Trials Data Module to seqr that:
Gene/Disease → Trial Lookup: Given a gene symbol or disease name (e.g., HTT / Huntington's disease), automatically query ClinicalTrials.gov (via their API) to surface actively recruiting trials.
Trial Summary Cards: Display key trial information inline:
Saved Trial Watchlists: Allow users to bookmark trials of interest per project/family, with notification when trial status changes.
Optional – Genotype Matching: For trials with genetic inclusion criteria (e.g., CAG repeat length for Huntington's), flag whether the patient's genotype matches eligibility.
Use Case
A clinical analyst using seqr identifies a pathogenic HTT expansion in a rare disease patient. With this module, they could immediately see that NCT07536061 (SRP-1005, a first-in-human ASO for Huntington's, Phase 1, recruiting) is available — without leaving the seqr interface.
Why This Fits seqr
seqr is already the bridge between raw genomics and clinical interpretation. Adding clinical trial awareness makes seqr a true bench-to-bedside platform for rare disease. This aligns perfectly with the mission of the Broad Institute's Center for Mendelian Genomics and the rare disease community.
References
Happy to help spec this out further or contribute a proof-of-concept!