Trial document





This trial has been registered retrospectively.
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  DRKS00004371

Trial Description

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Title

Molecular genetic analysis of patients with Hermansky Pudlak Syndrome

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Trial Acronym

HPS

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URL of the Trial

[---]*

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Brief Summary in Lay Language

Hermansky-Pudlak syndrome (HPS), an autosomal recessive disorder first described by Hermansky and Pudlak, presents with oculocutaneous albinism, increased bleeding symptoms. Bleeding diathesis is due to the absence of dense bodies in platelets. The clinical picture varies from mild bleeding symptoms to major bleeding episodes requiring transfusions. Additional features of HPS are pulmonary fibrosis and granulomatous colitis in a few patients.

Study purpose is an analysis of patiensts with albinism and bleeding symptoms in Germany.

Aim of the study is analysis of the molecular genetic defect in patients with Hermansky Pudlak syndrome to determine the correlation of phaeno- and genotype.

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Brief Summary in Scientific Language

Hermansky-Pudlak syndrome (HPS), an autosomal recessive disorder first described by Hermansky and Pudlak, presents with oculocutaneous albinism, increased bleeding symptoms and abnormal storage of lysosomal ceroids. Oculocutaneous albinism manifests with congenital nystagmus, iris transillumination, decreased visual acuity and reduction in skin pigmentation. Bleeding diathesis is due to the absence of dense bodies in platelets resulting in the lack of a secondary platelet aggregation response. The clinical picture varies from mild bleeding symptoms to major bleeding episodes requiring transfusions. Third feature of HPS is the accumulation of ceroid lipofuscin, an incompletely characterized lipid-protein complex thought to accumulate in cellular lysosomes and believed to cause pulmonary fibrosis and granulomatous colitis in some patients. At the cellular level, HPS is associated with impaired biosynthesis and/or processing of lysosomes and lysosome-related organelles (LROs), such as melanosomes, and platelet dense granules.

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Organizational Data

  •   DRKS00004371
  •   2012/09/11
  •   [---]*
  •   yes
  •   Approved
  •   225/10, Ethik-Kommission der Albert-Ludwigs-Universität Freiburg
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Secondary IDs

  •   U1111-1134-3890 
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Health Condition or Problem studied

  •   E70.3 -  Albinism
  •   D69.1 -  Qualitative platelet defects
  •   K50.1 -  Crohn's disease of large intestine
  •   J84.1 -  Other interstitial pulmonary diseases with fibrosis
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Interventions/Observational Groups

  •   In patients with albinism and increased bleeding symptoms the molecular genetic defect will be analysed.
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Characteristics

  •   Non-interventional
  •   Observational study
  •   Single arm study
  •   Open (masking not used)
  •   [---]*
  •   Uncontrolled/Single arm
  •   Basic research/physiological study
  •   Single (group)
  •   N/A
  •   N/A
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Primary Outcome

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.

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Secondary Outcome

[---]*

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Countries of Recruitment

  •   Germany
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Locations of Recruitment

  • University Medical Center 
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Recruitment

  •   Actual
  •   2010/08/01
  •   40
  •   Multicenter trial
  •   National
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Inclusion Criteria

  •   Both, male and female
  •   no minimum age
  •   no maximum age
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Additional Inclusion Criteria

Albinism, increased bleeding symptoms

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Exclusion Criteria

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

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Addresses

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    • Zentrum f. Kinder- und Jugendmedizin
    • Ms.  Prof. Dr.  Barbara  Zieger 
    • Mathildenst.1
    • 79106  Freiburg
    • Germany
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    • Zentrum für Kinder- und Jugendmedizin, Uniklinikum Freiburg
    • Ms.  Prof. Dr.  Barbara  Zieger 
    • Mathildenstr. 1
    • 79106  Freiburg
    • Germany
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    • Zentrum für Kinder- und Jugendmedizin, Uniklinikum Freiburg
    • Ms.  Prof. Dr.  Barbara  Zieger 
    • Mathildenstr. 1
    • 79106  Freiburg
    • Germany
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Sources of Monetary or Material Support

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    • Zentrum für Kinder- und jugendmedizin
    • Ms.  Prof. Dr.  Barbara  Zieger 
    • Mathildenstr.1
    • 79106   Freiburg
    • Germany
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Status

  •   Recruiting ongoing
  •   [---]*
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Trial Publications, Results and other Documents

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* This entry means the parameter is not applicable or has not been set.