An observational study in Hyalinosis, Hyaline Membrane Disease and Juvenile Hyaline Fibromatosis, sponsored by CENTOGENE GmbH Rostock. Withdrawn at 3 sites in 3 countries. Open to participants aged 2 Months and older. Per ClinicalTrials.gov, last updated 2023-02-13.
Sponsored by CENTOGENE GmbH Rostock · Observational
Development of a new MS-based biomarker for the early and sensitive diagnosis of Hyaline fibromatosis syndrome from the blood
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.
48 studies on the registry are indexed under Hyaline Membrane Disease; 13 are open to participants now.
Browse Hyaline Membrane Disease studies →CENTOGENE GmbH Rostock is the lead sponsor of 57 studies on the registry; none are open to participants now.
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Patients with Hyaline fibromatosis syndrome or high-grade suspicion for Hyaline fibromatosis syndrome
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High-grade suspicion present, if one or more inclusion criteria are valid:
Exclusion Criteria:
Patients with Hyaline fibromatosis syndrome or high-grade suspicion for Hyaline fibromatosis syndrome
Sequencing of the Hyaline Fibromatosis Syndrome related gene
Next-Generation Sequencing (NGS) of the ANTXR2 gene will be performed. The mutation will be confirmed by Sanger sequencing.
Time frame: 4 weeks
The Hyaline Fibromatosis Syndrome specific biomarker candidates finding
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.
Time frame: 24 months
Plan to share: Undecided
Ran from Aug 2018 to primary completion in Feb 2021, 30 months.
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This study is withdrawn, as verified in Feb 2023. You cannot join it, but the record below documents what was studied.
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