Unraveling Genetics of HypoPhosPhatasia (HPP Genetics)

NCT04925804 | Completed

• 1 other identifier: HPP genetics-2020
• Study Type: observational
• Target: 16
• Locations: 1 country
• Sites: 1

Brief Summary

Observational study to perform Whole Genome Sequencing in participants clinically suspected for HPP and negative for known pathogenic ALPL variants

Conditions

Hypophosphatasia

Keywords

Hypophosphatasia; HPP; non-ALPL

Outcome Measures

Primary Outcomes (1)

• Genetic analysis (WGS) of participants clinically suspected for HPP

  Analyis of Whole Genome Sequencing data in participants clinically suspected for HPP disease to characterize the genetic background of these 16 HPP subjects, who do not have pathogenic variant/s in the ALPL gene.

  6 months

Secondary Outcomes (1)

• Analysis and identification of genetic variants

  6 months

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The participant is clinically suspected for HPP with no pathogenic variant/s in the ALPL gene

* Informed consent is obtained from the participant or from the parent / legal guardian * The participant is clinically suspected for HPP * The participant does not have pathogenic variant/s in the ALPL gene * The participant showed low alkaline phosphatase levels (age- and sex-adjusted) on at least two occasions at least a month apart based on the local laboratory reference range * None of these conditions are present: * Celiac disease and * Clofibrate therapy and * Cleidocranial dysplasia and * Cushing's syndrome and * Hypothyroidism and * Massive Blood transfusion and * Milk-alkali syndrome and * Multiple myeloma and * Osteogenesis imperfecta, type II and * Pernicious or profound anemia and * Starvation and * Vitamin C deficiency and * Vitamin D intoxication and * Zinc deficiency and * Magnesium deficiency

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead
• Alexion Pharmaceuticals, Inc.: collaborator

Study Sites (1)

Universität Würzburg - Klinische Studieneinheit, Orthopädische Klinik

Würzburg, 97074, Germany

Location

Related Publications (1)

• Seefried L, Petryk A, Del Angel G, Reder F, Bauer P. Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants. Mol Biol Rep. 2024 Sep 14;51(1):984. doi: 10.1007/s11033-024-09906-7.

  PMID: 39276275 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on Dry Blood Spot (DBS) Filtercard (CentoCard®)

MeSH Terms

Conditions

Hypophosphatasia

Condition Hierarchy (Ancestors)

Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Peter Bauer, Prof. Dr.

  CENTOGENE GmbH

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 9, 2021
• First Posted: June 14, 2021
• Study Start: June 2, 2021
• Primary Completion: December 2, 2021
• Study Completion: December 2, 2021
• Last Updated: December 29, 2021

Record last verified: 2021-12

Locations

DE (1)