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Biomarker for Hyaline Fibromatosis Syndrome (BioHFS) (BioHFS)

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ClinicalTrials.gov Identifier: NCT03196115
Recruitment Status : Recruiting
First Posted : June 22, 2017
Last Update Posted : September 17, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

Tracking Information
First Submitted Date June 20, 2017
First Posted Date June 22, 2017
Last Update Posted Date September 17, 2019
Actual Study Start Date August 20, 2018
Estimated Primary Completion Date June 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 22, 2019)
Sequencing of the Hyaline Fibromatosis Syndrome related gene [ Time Frame: 4 weeks ]
Next-Generation Sequencing (NGS) of the ANTXR2 gene will be performed. The mutation will be confirmed by Sanger sequencing.
Original Primary Outcome Measures
 (submitted: June 20, 2017)
The diagnosis of Hyaline fibromatosis syndrome measured by sequencing of Hyaline fibromatosis syndrome [ Time Frame: 36 months ]
Change History Complete list of historical versions of study NCT03196115 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: January 22, 2019)
The Hyaline Fibromatosis Syndrome specific biomarker candidates finding [ Time Frame: 24 months ]
The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.
Original Secondary Outcome Measures
 (submitted: June 20, 2017)
Number of correct identified patients with Hyaline fibromatosis syndrome [ Time Frame: 36 months ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Biomarker for Hyaline Fibromatosis Syndrome (BioHFS)
Official Title Biomarker for Hyaline Fibromatosis Syndrome - An International, Multicenter, Epidemiological Protocol
Brief Summary Development of a new MS-based biomarker for the early and sensitive diagnosis of Hyaline fibromatosis syndrome from the blood
Detailed Description

Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. It represents a disease spectrum with infantile systemic hyalinosis (ISH) being the severe form and juvenile hyaline fibromatosis (JHF) being the mild form. Dermatologic manifestations include thickened skin, perianal nodules, and facial papules, gingival hyperplasia, large subcutaneous tumors on the scalp, hyperpigmented plaques over the metacarpophalangeal joints and malleoli, and joint contractures. ISH shows a severe visceral involvement, recurrent infections, and early death.

The lesions appear as pearly papules or fleshy nodules. The severity is variable. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. These patients may show intractable diarrhea and increased susceptibility to infection. Other patients have later onset of a milder disorder affecting only the face and digits. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis.

New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.

Therefore it is the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:

For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample will be taken from patient via using a dry blood spot filter card. To proof the correct Hyaline fibromatosis syndrome diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of Hyaline fibromatosis syndrome will be done.

The analyses will be done at:

Centogene AG Am Strande 7 18055 Rostock Germany

Sampling Method Probability Sample
Study Population Patients with Hyaline fibromatosis syndrome or high-grade suspicion for Hyaline fibromatosis syndrome
Condition
  • Hyalinosis
  • Hyaline Membrane Disease
  • Juvenile Hyaline Fibromatosis
  • Fibromatosis Hyalinica Multiplex Juvenilis
  • Skin and Connective Tissue Diseases
Intervention Not Provided
Study Groups/Cohorts Observation
Patients with Hyaline fibromatosis syndrome or high-grade suspicion for Hyaline fibromatosis syndrome
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 22, 2019)
1000
Original Estimated Enrollment
 (submitted: June 20, 2017)
20
Estimated Study Completion Date June 2021
Estimated Primary Completion Date June 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Informed consent will be obtained from the parents before any study related procedures.
  • Patients of both gender older than 2 months
  • The patient has a diagnosis of Hyaline fibromatosis syndrome or a high-grade suspicion for Hyaline fibromatosis syndrome

High-grade suspicion present, if one or more inclusion criteria are valid:

  • Positive family anamnesis for Hyaline fibromatosis syndrome
  • Coarse facies
  • Subcutaneous nodule
  • Gingival fibromatosis
  • Skeletal muscle atrophy
  • Progressive flexion contractures

Exclusion Criteria:

  • No Informed consent from the parents before any study related procedures.
  • Patients of both gender younger than 2 months
  • No diagnosis of Hyaline fibromatosis syndrome or no valid criteria for profound suspicion of Hyaline fibromatosis syndrome
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Months and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Volha Skrahina, Dr +4938180113594 ext 594 volha.skrahina@centogene.com
Listed Location Countries Egypt,   Germany,   India
Removed Location Countries  
 
Administrative Information
NCT Number NCT03196115
Other Study ID Numbers BHFS 06-2018
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Centogene AG Rostock
Study Sponsor Centogene AG Rostock
Collaborators Not Provided
Investigators
Principal Investigator: Arndt Rolfs, MD Centogene AG Rostock
PRS Account Centogene AG Rostock
Verification Date January 2019