STRC Research

Patient Registry Blueprint for STRC Hearing Loss

3 min read

Patient Registry Blueprint for STRC Hearing Loss

Deep research on building a rare disease patient registry for STRC/DFNB16. Full report: ~/DeepResearch/misha-foundation/2026-03-20-patient-registry-blueprint.md

Key Findings

Minimum Viable Registry (Phase 1)

Platform recommendation: RARE-X or GenomeConnect (NOT custom-built)

  • RARE-X: free for foundations, HIPAA/GDPR compliant, researcher portal built-in
  • GenomeConnect (ClinGen): connects genetic data to phenotype, NIH-funded infrastructure
  • CoRDS (Sanford): another option, NORD-affiliated
  • Custom registry = waste of money at this stage

Core data fields for STRC natural history:

  1. Genetic report (variants, zygosity, lab)
  2. Serial audiograms (PTA, word recognition scores, tympanometry)
  3. Age of onset / age of diagnosis
  4. Hearing aid/CI status and outcomes
  5. Otoacoustic emissions (OAE) history (STRC-specific: DPOAEs may be absent or reduced)
  6. Family history (consanguinity, affected siblings)
  7. Progression rate (stable vs progressive, critical for trial design)
  8. Speech/language development milestones
  9. Quality of life measures (HEAR-QL, SSQ)
  10. Imaging (CT/MRI if available, to confirm normal cochlear anatomy)

Regulatory Requirements

IRB/Ethics:

  • YES, IRB approval required even for a “registry” if data will be used for research
  • Can use a central IRB (WIRB/Advarra) without institutional affiliation: ~$3,000-5,000
  • Alternative: partner with Holt Lab’s existing IRB at BCH (preferred, adds credibility)
  • For minors: parental consent + assent from children 7+ (varies by jurisdiction)

HIPAA (US patients):

  • Registry must be HIPAA-compliant if collecting PHI
  • Using RARE-X/CoRDS solves this (they are already compliant)
  • De-identification option: collect only coded data, keep key at third party

GDPR (EU patients):

  • Lawful basis: explicit consent (Article 9(2)(a))
  • Must have DPO, privacy policy, data processing agreement
  • Again, RARE-X handles this

PDPO (Hong Kong):

  • Less restrictive than GDPR, consent-based
  • No separate registration requirement

Why Registry Matters for Clinical Trials

  • FDA requires natural history data for rare disease trial design
  • Defines “normal progression” so drug effect can be measured
  • Identifies outcome measures (which audiometric tests, at what intervals)
  • Patient recruitment: registry = pre-screened trial population
  • STRC-specific: need to establish whether hearing loss is truly stable or slowly progressive (conflicting literature)

Cost Estimates

  • RARE-X platform: FREE
  • IRB approval: 0 (if piggybacking on academic partner)
  • Genetic counselor for variant review: 3,000-6,000
  • Survey design and validation: $5,000-10,000 (can be done in-kind by academic partner)
  • Total Phase 1: $10,000-25,000 (or near-zero with academic partnership)

Recruitment Strategy

  • Partner with genetic testing labs (GeneDx, Invitae) for referrals
  • STRC Facebook groups (already exist, small but active)
  • Hearing loss clinics (audiology departments at children’s hospitals)
  • ClinicalTrials.gov listing (even for observational study, increases visibility)
  • Deaf/HoH community organizations
  • Critical: Holt Lab connection can recruit from their own patient population

Timeline

  • Month 1-2: Choose platform, draft protocol, submit to IRB
  • Month 3-4: IRB approval, launch recruitment materials
  • Month 5-6: First patients enrolled
  • Month 6-12: 50-100 patients (realistic for ultra-rare STRC)
  • Year 2: Natural history data sufficient for trial design input

Connections

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