Hereditary Autoinflammatory Disease

300mg Lanadelumab s.c. administration every 2 weeks

Lanadelumab

Charite University, Berlin, Germany

Lanadelumab in FXII-associated Cold Autoinflammatory Syndrome (FACAS)

Factor XII-associated Cold Autoinflammatory Syndrome (FACAS) Linked to Kallikrein-kinin Pathology: Proof of Concept Treatment With Lanadelumab (DX-2930)

Patient-reported total disease activity is assessed by a disease-specific daily health assessment form (FXII-associated Cold autoinflammatory Syndrome daily Health assessment form; FACAS-DHAF) grading the severity of 5 key symptoms of FACAS: urticarial rash, fatigue, chills/fever, arthralgia and headache (scale 0=no symptoms to 50=max. of symptoms).

Patient-reported urticarial rash disease activity is assessed by a disease-specific daily health assessment form (FXII-associated Cold autoinflammatory Syndrome daily Health assessment form; FACAS-DHAF; scale 0=no symptoms to 10=max. of symptoms)

Patient-reported fatigue disease activity is assessed by a disease-specific daily health assessment form (FXII-associated Cold autoinflammatory Syndrome daily Health assessment form; FACAS-DHAF; scale 0=no symptoms to 10=max. of symptoms)

Patient-reported chills/fever disease activity is assessed by a disease-specific daily health assessment form (FXII-associated Cold autoinflammatory Syndrome daily Health assessment form; FACAS-DHAF;scale 0=no symptoms to 10=max. of symptoms)

Patient-reported arthralgia disease activity is assessed by a disease-specific daily health assessment form (FXII-associated Cold autoinflammatory Syndrome daily Health assessment form; FACAS-DHAF; scale 0=no symptoms to 10=max. of symptoms)

Patient-reported headache disease activity is assessed by a disease-specific daily health assessment form (FXII-associated Cold autoinflammatory Syndrome daily Health assessment form; FACAS-DHAF; scale 0=no symptoms to 10=max. of symptoms)

Patient-reported total disease activity is assessed by a disease-specific daily health assessment form (FXII-associated Cold autoinflammatory Syndrome daily Health assessment form; FACAS-DHAF; scale 0=no symptoms to 50=max. of symptoms

assessed by Dermatology Life Quality Index (DLQI); scale 0=no impairment to 30=max. impairment

assessed by 36-Item Short Form Health Survey (SF-36); scale 0=max. impairment to 100=no impairment (best Quality of life)

Safety of lanadelumab Treatment is assessed by physical examination, routine safety laboratory assessments, vital signs, and adverse Event reporting.

Verbal Rating scale assesses overall Symptoms from 0-10 (0=no symptoms; 10=very severe symptoms)

Potential biomarkers include Plasma FXII Levels

Potential biomarkers include Plasma prekallikrein Levels

Potential biomarkers include Plasma cHMWK Levels

Potential biomarkers include IL-1ß release from donor PBMCs

Karoline Krause

Ass. Professor

Shire International GmbH

exploratory, proof-of-concept, single-center, open-label pilot study

Participants older than 18 years that are clinically diagnosed with Hereditary Angioedema type 1/2 and experienced ≥4 HAE attacks within last 12 month before the enrollment

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

Hereditary Angioedema

A blood sample will be taken on seven subsequent visits with 3 month intervals in the first 12 months (visit 1-5) and 6 month intervals thereafter (visit 6-7) and the cHMWK biomarker and other metabolite levels will be biochemically assessed.
DBS based biochemical measurements of C4 complement and C1-INH levels will be tested for HAE type 1 and type 2 via liquid chromatography multiple reaction-monitoring mass spectrometry, and the cHMWK biomarker and other metabolite levels will be biochemically assessed.
Additionally, every patient will be asked to pay attention for occurring HAE attacks: at the beginning, 3 hours, 6 hours, 12 hours and 24 hours after the beginning of the attack.

Withdraw of blood

Charité - Universitätsmedizin Berlin

Klinikum der Johann-Wolfgang-Goethe-Universität

Medizinische Hochschule Hannover

Universitäts-Hautklinik Leipzig

Hämophilie-Zentrum Rhein Main GmbH

Universitätsklinikum Ulm

Hereditary Angioedema Kininogen Assay

Hereditary Angioedema Kininogen Assay: A Multicenter, Epidemiological, Observational Study.

Samples from HAE patients without lanadelumab treatment versus patients on lanadelumab treatment will be analyzed for cHMWK via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS).

Samples from HAE patients without lanadelumab treatment versus patients on lanadelumab treatment collected before/during/after angioedema attacks will be analyzed for cHMWK via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS).

All samples will be analyzed for potential biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS).

Centogene AG Rostock

Participants diagnosed with Hereditary Angioedema disease aged between 2 months and 60 years

C1 Esterase Inhibitor Deficiency

Angio Edema

C4 Deficiency

Hereditary Angioedema Type II

Hereditary Angioedema Type III

Hereditary Angioedema Type I

CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients

David Tvildiani Medical University

Centrul Clinic Mediquest

Biomarker for Hereditary AngioEdema Disease

Biomarker for Hereditary AngioEdema Disease: An International, Multicenter, Longitudinal Monitoring Protocol

All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.

Samples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.

angioedema/protease

Lanadelumab in FXII-associated Cold Autoinflammatory Syndrome (FACAS)

Hereditary Angioedema Kininogen Assay

Biomarker for Hereditary AngioEdema Disease

Najkompletnija baza ljekovitog bilja potpomognuta naukom