AI-DRIVEN DIAGNOSIS OF
RARE (HIDDEN) DISEASES
Our mission is to support all market stakeholders in diagnosing patients with rare diseases for clinical trials, treatment or patients’ monitoring. Developed algorithms, that analyse EHRs, are implemented on our platforms: (i) Saventic Med Platform – for medical clinics and physicians, (ii) Saventic Care Platform – for patients.
OUR PRESENCE
Canada (Calgary)
USA (Boston)
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Germany (Leipzig/Berlin)
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Poland/CEE (Warsaw)
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Brazil (Sao Paulo)
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Comprehensive solutions to diagnose rare diseases
Input data (from patients' EHR)
Output data (feedback for doctors)
a) Age, sex
b) Laboratory test results
c) Medical interviews
d) Physical examination
e) Radiology
f) Many others (ICD-10, drugs, other diseases)
Medical interview example:
newly diagnosed macrocythic anemia ... kidney failure II stage (KIDO 2012) ... Bone pain in the lumbar region increasing for 6 months – requires taking painkillers everyday
Medical imaging example:
X-ray lumbar section: ..... degenerative changes in L1-2, L4-S1, osteolytic changes in the vertebral bodies L2 and S3 .....
Abdominal ultrasound: ..... kidneys of normal size, without hepato- splenomegaly, without lymphadenopathy ....
Natural Language processing
AI / ML classifiers, algorithms
Rare disease: Yes
ICD-10: Fabry
Rationale: stroke 2x at young age, univerified cardiomyopathy
Proposed next steps: DBS test at a reference clinic
OUR FOCUS ON RARE DISEASES
Key facts
6-8% (550 mln)
of global population suffer from rare diseases
>7 000
known rare diseases
50%
affected are children
only 10%
of rare diseases have treatment
~5 years
on average takes the diagnostic process of rare diseases from first symptoms
only 1 out of 8
patients with rare diseases is diagnosed & duly treated, many remain undiagnosed
Our current focus
Blood and bone
marrow diseases
Metabolic
Immune system
Cardiology
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Blood cancers (various including, mastocytosis and myelofibrosis)
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CTCL
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TTP
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PNH
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Castleman
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ITP
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HLH
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PNH
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Gaucher disease
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Fabry disease
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Pompe disease
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HAE
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MPS 1
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MPS 2 (Hunter)
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MPS 3
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Common variable immunodeficiency (CVID)
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Severe combined immunodeficiency (SCID)
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DiGeorge syndrome
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Chronic granulomatous disease (CGD)
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Amyloidosis AL
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Amyloidosis ATTR
..... and many others diseases .....
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OUR TEAM
IMPLEMENTATION
SAVENTIC MED PLATFORM - FOR PHYSICIANS AND MEDICAL CLINICS
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Saventic Med Platform with AI-driven algorithms is implemented in clinics.
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Integration with existing database (pre-defined tables' format).
Signing an agreement with a medical clinic, team organization
Preparation of datasets locally by the clinic (pre-defined tables)
Workshops with clinics' physicians to re-train NLP algorithms
Algorithms' implementation locally based on data fully anonymised
Organization of diagnostic process of selected patients
Provision of reports with statistics & efficacy of the algorithms
4-6 weeks
SAVENTIC CARE PLATFORM - FOR INDIVIDUAL PATIENTS
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Online platform for: (i) patients actively looking for a diagnosis that can upload medical data, and (ii) RD specialists (medical council) to analyse it and refer patients to the appropriate specialist / clinic.
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Saventic Care is promoted in online & offline media.
Patient actively looks for help (e.g. specialist) and finds Saventic Care
Online platform allows to fill-in questionare & attach medical data
Co-ordinator verifies data completeness, may ask for extra data
Algorithms analyze data and indicate the most likely rare disease
Patient referred to the specialist to continue the process
Provision of reports with statistics & efficacy of the algorithms
30 days