HyalinosisBioHFSNCT03196115
Biomarker for Hyaline Fibromatosis Syndrome (BioHFS)
An observational study of Hyalinosis and Hyaline Membrane Disease, run by CENTOGENE GmbH Rostock at 3 sites in 3 countries.
Trial summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Hyaline fibromatosis syndrome from the blood Read more about this study
- Who is it for?
- Ages 2 months and older
- Conditions the study is for
- Hyalinosis, Hyaline Membrane Disease, Juvenile Hyaline Fibromatosis
- How many people
- 0 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 20 Aug 2018to 28 Feb 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Hyaline fibromatosis syndrome or high-grade suspicion for Hyaline fibromatosis syndrome
Who may be able to join
- 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
Show all 10Show fewer
- Subcutaneous nodule
- Gingival fibromatosis
- Skeletal muscle atrophy
- Progressive flexion contractures
Who cannot join
- 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
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
India1 site
NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist
Mumbai, 400705
About this study
Official title: Biomarker for Hyaline Fibromatosis Syndrome - An International, Multicenter, Epidemiological Protocol
Development of a new MS-based biomarker for the early and sensitive diagnosis of Hyaline fibromatosis syndrome from the blood
Read the 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.
- Conditions
- Hyalinosis, Hyaline Membrane Disease, Juvenile Hyaline Fibromatosis, Fibromatosis Hyalinica Multiplex Juvenilis, Skin and Connective Tissue Diseases
- Keywords
- Hyaline Fibromatosis Syndrome, Biomarker
- Medical subject headings
- Hyaline Membrane Disease, Hyaline Fibromatosis Syndrome, Skin and Connective Tissue Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Observation | Patients with Hyaline fibromatosis syndrome or high-grade suspicion for Hyaline fibromatosis syndrome |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 4 weeks
Secondary outcomes (1)
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.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jun 2017
- Study start20 Aug 2018
- Primary completion28 Feb 2021
- Study completion28 Feb 2021
Why it stopped: Transition to BioMetabol
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HyalinosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, Prof., Study chair, Centogene GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03196115
- Sponsor's protocol ID
- BHFS 06-2018
- Acronym
- BioHFS
- Status last verified
- Feb 2023
- First submitted
- 20 Jun 2017
- Last updated
- 13 Feb 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 13 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarker for Hyaline Fibromatosis Syndrome - An International, Multicenter, Epidemiological Protocol
- ClinicalTrials.gov ID
- NCT03196115
- Acronym / sponsor ID
- BioHFS / BHFS 06-2018
- Conditions
- Hyalinosis, Hyaline Membrane Disease, Juvenile Hyaline Fibromatosis, Fibromatosis Hyalinica Multiplex Juvenilis, Skin and Connective Tissue Diseases
- Keywords
- Hyaline Fibromatosis Syndrome, Biomarker
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Transition to BioMetabol
- Enrolment
- 0 participants (actual)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 20 Aug 2018 (actual)
- Primary completion
- 28 Feb 2021 (actual)
- Study completion
- 28 Feb 2021 (actual)
- First posted
- 22 Jun 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Observation | – | –Patients with Hyaline fibromatosis syndrome or high-grade suspicion for Hyaline fibromatosis syndrome |
Who may qualify
- Ages
- 2 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Hyaline fibromatosis syndrome or high-grade suspicion for Hyaline fibromatosis syndrome
Key inclusion criteria (10 listed)
- 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
- Positive family anamnesis for Hyaline fibromatosis syndrome
- Coarse facies
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
The Hyaline Fibromatosis Syndrome specific biomarker candidates finding
Time frame: 24 months
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Feb 2023.
- Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.Link provided by the sponsor.
- Individual participant dataSharing planned: Undecided
Related trials for Hyalinosis
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Peter Bauer, Prof. study chair
Centogene GmbH
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hyalinosis and Hyaline Membrane Disease, run by CENTOGENE GmbH Rostock at 3 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 13 Feb 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Germany, India, Sri Lanka. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sequencing of the Hyaline Fibromatosis Syndrome related gene (time frame: 4 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Feb 2023.