Molecular genetic analysis of patients with Hermansky Pudlak Syndrome

Molecular genetic analysis of patients with Hermansky Pudlak Syndrome - HPS

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00004371

Enrollment

Registered

2012-09-11

Start date

2010-08-01

Completion date

Unknown

Last updated

2025-04-07

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

Conditions

E70.3 D69.1 K50.1 J84.1

Interventions

Group 1: In patients with albinism and increased bleeding symptoms the molecular genetic defect will be analysed.

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Albinism, increased bleeding symptoms

Exclusion criteria

Exclusion criteria: lack of patient's or parents' consent for biochemical and molecular genetic analysis

Design outcomes

Primary

Measure	Time frame
After determination of the diagnosis HPS using flowcytometry of platelets, the molecular genetic analyses are initiated. As soon as the results of the clincal, biochemical, and molecular genetic investigations are available, the correlation of genotype/phaenotype is initiated.	—

Countries

Germany

Contacts

Public ContactBarbara Zieger

Zentrum für Kinder- und Jugendmedizin, Uniklinikum Freiburg

Barbara.Zieger@uniklinik-freiburg.de0761 270 43000

Outcome results

None listed

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