Registry study for the identification of patients with hereditary alpha tryptasemia

Registry study for the identification of patients with hereditary alpha tryptasemia - HAT Register

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00036608

Enrollment

2000

Registered

2025-04-30

Start date

2024-05-09

Completion date

Unknown

Last updated

2025-10-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hereditary alphatryptasemia

Interventions

Group 1: Patients who were tested for HaT due to elevated tryptase levels and/or typical symptoms

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: - Submission of a blood sample - Written consent for inclusion in the registry - The ability to understand and complete the questionnaire

Exclusion criteria

Exclusion criteria: - Decline of registry participation

Design outcomes

Primary

Measure	Time frame
Determination of the incidence of hereditary alpha tryptasemia (HaT) in symptomatic patients (elevated tryptase levels and/or typical symptoms)	—

Secondary

Measure	Time frame
– Correlation between hereditary alpha tryptasemia (HaT) and systemic mastocytosis - Correlation between HaT and selected laboratory parameters - Correlation of HaT (positive/negative) and systemic mastocytosis with symptom profiles - Analysis of genotype–phenotype associations in individuals with HaT - Correlation of baseline serum tryptase levels with genotype, presence of cKIT D816V mutation, and diagnosis of systemic mastocytosis - Identification of additional HaT-associated genetic variants and assessment of their clinical relevance - Evaluation of a potential causal relationship between HaT and associated symptoms by comparison with a control cohort	—

Measure

Time frame

– Correlation between hereditary alpha tryptasemia (HaT) and systemic mastocytosis - Correlation between HaT and selected laboratory parameters - Correlation of HaT (positive/negative) and systemic mastocytosis with symptom profiles - Analysis of genotype–phenotype associations in individuals with HaT - Correlation of baseline serum tryptase levels with genotype, presence of cKIT D816V mutation, and diagnosis of systemic mastocytosis - Identification of additional HaT-associated genetic variants and assessment of their clinical relevance - Evaluation of a potential causal relationship between HaT and associated symptoms by comparison with a control cohort

—

Countries

Germany

Contacts

Public ContactDagmar von Bubnoff

UKSH Campus Lübeck, Klinik für Dermatologie und Allergologie

dagmar.vonbubnoff@uksh.de0451-5000

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026