Biomarker for Hyaline Fibromatosis Syndrome (BioHFS)
Stopped: Transition to BioMetabol
Germany, India, Sri Lanka0Started 2018-08-20
Plain-language summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Hyaline fibromatosis syndrome from the blood
Who can participate
Age range2 Months
SexALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
What they're measuring
1
Sequencing of the Hyaline Fibromatosis Syndrome related gene