Navia · Rare disease intelligence/7,247 diseases indexed

Understand
rare disease.

ORPHA · Any indicationORPHA:399 · G10ORPHA:586 · E84ORPHA:98896 · G71.0ORPHA:231169 · H35.5Trials · Papers · Centres · Signals · Failures
NV—001Version α · mocked dataScroll ↓
The problem

Rare, by definition.
Invisible, by consequence.

Every rare disease is a fragment — split across registries, publications, trials, centres, and a hundred different vocabularies. Navia stitches the fragments into a single, legible view.

  • 1 in 15
    people carry a rare disease.
    WHO / Orphanet 2024
  • 7,247
    catalogued rare diseases.
    Orphanet nomenclature
  • 95%
    without an approved therapy.
    FDA / EMA registries
NV—002 · ContextContinue ↓
NV-002.5 · Behind the data
Behind every rare diseasea family, asking questions no one has answered.
Navia · Rare disease intelligenceAn index for the answers that took too long.
95%

of rare diseases lack an approved therapy.

Treatment landscape · 7,247 rare diseasesNV—003
Approved therapies362 INDICATIONS
5%
Phase 3584 INDICATIONS
8%
Phase 21,304 INDICATIONS
18%
Phase 12,461 INDICATIONS
34%
Pre-clinical2,316 INDICATIONS
32%
Untouched by science220 INDICATIONS
3%
*Every stage. Every phase. Every registry. Indexed daily and linked to the disease.
NV—003 · LANDSCAPECONTINUE ↓
Rare disease intelligence
navia.health · huntington-disease
Diseases Huntington disease

Huntington disease ORPHA:399

A rare neurodegenerative disorder characterised by involuntary choreatic movements, behavioural and psychiatric disturbances, and progressive cognitive decline.

Developing Complete · 8/8
114
Active
307
Total
39
Countries
374
Papers
10
Centers
Mature ecosystemGeographically distributedEarly-stage pipeline
Phase
Early-stage weighted pipeline. 49 of 114 trials recruiting. Market validation pending.
Geography
United States + United Kingdom hold 46% of reference centres. Distribution supports multi-site coordination.
Assessment
High research activity with 49 trials actively recruiting. Established treatment base + active development pipeline.

Clinical Trials

ClinicalTrials.gov · CTIS · WHO ICTRP
114
Active
49 recruiting · 39 countries
TrialPhaseStatus
A Pilot Study Assessing…
NCT02580793
Phase 4Unknown
Effect of Tetrabenazine…
NCT01834911
Phase 4Completed
Study of Memantine…
NCT00652457
Phase 4Completed

Institutions

ROR · ClinicalTrials.gov
10
Centers
Top 2 hold 46%
  • United States
    429
  • United Kingdom
    185
  • Germany
    124
  • Spain
    62

Ecosystem Map

ROR · ClinicalTrials.gov
US
UK
DE
ES
FR
IT
JP
BR

Publications

PubMed
374
Papers
↑ +30 y/y
  • Longitudinal transcriptomic analysis of HTT-lowering therapies
    Chen L., Novak M., et al. · Cell · 2025
  • Prospective longitudinal neurodevelopmental outcomes in premanifest Huntington
    Klein A., Weiss R., et al. · Nature Medicine · 2024
  • ENROLL-HD 15-year cohort: disease severity trajectories
    Roos R., Sampaio C. · Lancet Neurology · 2024

Treatments

FDA OOPD · ClinicalTrials.gov
Approved3
Pipeline55
Phase 312
Phase 226
DrugMechanismStatus
Valbenazine
VMAT2 inhibitorFDA 2023
Deutetrabenazine
VMAT2 inhibitorFDA 2017
Tetrabenazine
VMAT2 inhibitorFDA 2008

Research Signals

Navia intelligence
Mature Ecosystem
71
Activity
80
Maturity
39
Intensity
5
Concentration

Biological Signals

OpenTargets · UniProt
HTT
Top target
245 genes / targets
  • HTT Gene
  • DRD2 Receptor
  • VMAT2 Transporter
  • BDNF Neurotrophin

Termination Intelligence

ClinicalTrials.gov
21
Terminated
7.8% early-stop rate
  • Tominersen (HTT-lowering ASO)
    Phase 3 · Efficacy · 2021
  • Pridopidine early study
    Phase 2 · Endpoint · 2020
  • Selisistat
    Phase 2 · Safety · 2015

Disease Similarity Landscape

ChEMBL · OpenTargets
1
Linked diseases
0 shared targets
  • Spinocerebellar ataxia 12

Data Coverage

Refresh cycle
High
Coverage
5/8 sources
  • ClinicalTrials.gov
    TodayFull
  • PubMed
    5 days agoFull
  • WHO ICTRP
    6 days agoFull
  • Orphanet
    1 day agoFull

Registries · RWD

Navia curation
3
Registries
27,700 patients
  • ENROLL-HD
    15,400 patients · Global
  • Huntington Study Group
    8,200 patients · Americas
  • Registry of the European Huntington
    4,100 patients · Europe
Pick a rare disease
Cystic fibrosis1,599 trials+12 last 30d
Spinal cord injury887 trials+7 last 30d
Nasopharyngeal carcinoma765 trials0 last 30d
Duchenne muscular dystrophy612 trials+3 last 30d
Huntington disease401 trials-2 last 30d
Retinitis pigmentosa358 trials+9 last 30d
Sickle cell disease1,122 trials+4 last 30d
ALS749 trials+1 last 30d
Cystic fibrosis1,599 trials+12 last 30d
Spinal cord injury887 trials+7 last 30d
Nasopharyngeal carcinoma765 trials0 last 30d
Duchenne muscular dystrophy612 trials+3 last 30d
Huntington disease401 trials-2 last 30d
Retinitis pigmentosa358 trials+9 last 30d
Sickle cell disease1,122 trials+4 last 30d
ALS749 trials+1 last 30d
0K+
Publications
Indexed, deduplicated, and structured by disease.
0M+
Clinical trials
Mapped and normalized across global registries.
0K+
Reference centers
Indexed with trial activity and geographic concentration.
Daily
Refresh cadence
Updated continuously across source refresh cycles.
Positioning

Built to inform decisions.
Never to make them.

Health decisions fail from fragmentation, not absence of data. We link what is already known.

01

Unified data model

Every record normalised into a disease-first ontology. MeSH, ICD, SNOMED.

02

Cross-entity graph

Trials, publications, institutions, treatments. Linked, not listed.

03

Deterministic intelligence

Every metric computed from fixed rules. No generative inference.

The unified disease view

Every disease,
one coherent surface.

01 · 04

Structured. Not searched.

MEDLINE wired in.

  • papers500K
  • authors92M
  • idsORCID
01 Literature02 Institutions03 Trials04 Compounds
disease.graph(1)
Methodology

A pipeline you can audit.

Raw registries to a linked graph. Every step deterministic. Every source traceable.

01
Raw input

Source indexing

Primary sources indexed continuously — ClinicalTrials.gov, PubMed, CTIS, FDA/EMA regulatory filings. No manual curation. No secondhand sources.

02
Normalised

Ontology mapping

All records normalised into a shared ontology. Every entity mapped to MeSH, ICD, SNOMED CT, and RxNorm. No proprietary taxonomy.

03
Linked graph

Relational linking

Normalised records linked across entities into a single relational graph. Trials to institutions, publications to investigators, compounds to indications.

Data sources

Literature

PubMed / MEDLINEPublications

Trial registries

ClinicalTrials.govUS registry
WHO ICTRPGlobal registry
EudraCT / CTISEuropean trials

Regulatory & compounds

FDA / EMA filingsApprovals
DrugBank / ChEMBLCompound data

Identifiers

ROR / ORCIDInstitutions & people

Capabilities

Research mappingPublications + citations
Clinical trial intelligenceActive + completed
Treatment landscapeApproved + pipeline
Geographic distributionInteractive map
Research gap detectionWhite space analysis
Change trackingAlerts on signal shifts
NV—004 · Manifesto

Rare should not mean unknown.Fragmentation should not mean invisibility.

Who Navia is built for

Clarity for everyone fighting the fog.

Every team across the disease lifecycle.

01

Doctors & physicians

Active trials, approved treatments, and leading centres for any condition — linked, structured, current.

02

Researchers

Weeks of literature review compressed into a structured landscape view. Who publishes, where trials run, what gaps remain.

03

Patients & families

Clearer explanations of your condition and visibility of clinical trials — without needing to be a scientist.

04

Patient organisations

Know the full landscape of your disease area — clinical activity, institutions, trial access — to support your community.

05

Medical institutions

Monitor trial activity, institutional presence, and disease-level research concentration to inform strategy.

06

Pharma & biotech

Evaluate the competitive landscape before committing resources. Identify concentration and opportunity.

07

Healthcare industry

Structured intelligence for rare and complex diseases — biomarkers to pipeline, mapped, linked, and current.

08

Analysts & investors

Disease-level intelligence for market assessment, benchmarking, and pipeline evaluation — from data, not narrative.