Molecular genetic analysis of patients with Hermansky Pudlak Syndrome

Recruiting

• Conditions: E70.3; D69.1; K50.1; J84.1; Albinism; Qualitative platelet defects; Crohn disease of large intestine; Other interstitial pulmonary diseases with fibrosis

• Registration Number: DRKS00004371
• Lead Sponsor: Zentrum f. Kinder- und Jugendmedizin

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2012-09-11
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 40

Inclusion Criteria

Albinism, increased bleeding symptoms

Exclusion Criteria

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

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.