eraSmus medIcal ceNTer skEletal fRagility study

eraSmus medIcal ceNTer skEletal fRagility study - SINTER

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON57395

Enrollment

5650

Registered

2025-04-04

Start date

2025-11-03

Completion date

Unknown

Last updated

2026-03-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

common/complex genetic disorders bone fragility

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: Stage 1 To be eligible to participate in this study, a subject must meet all the following criteria for inclusion: a) Age >18 years b) Being a patient attending one of the outpatient clinics in Erasmus MC, including: Botcentrum; Diabetologie; Geriatrics; Centrum Gezond gewicht; Nephrologie; Schildkliercentrum; Vasculaire Geneeskunde; Mastocytosis. c) Have blood drawing as part of planned care in Erasmus MC or having already provided a sample eligible for genomic profiling (biobank). d) Be legally competent to understand informed consent or having a legal guardian representative. Stage 2 inclusion is dictated by the "Recall by Genotype" selection.

Exclusion criteria

Exclusion criteria: A potential subject who meets the inclusion criteria will be excluded from participation of this study when: a) Not agreeing to be re-contacted for participation in future studies b) Being diagnosed as terminally ill due to a chronic condition and/or undergoing palliative treatment c) Women who are pregnant In addition, for Stage 2 a subject will be excluded from the Osteoprobe measurement when in presence of: d) Local (tibia) oedema e) Local skin infection or cellulitis f) Prior clinical or stress fracture in the tibia diaphysis g) Dermatological lesions in the area of measurement h) Focal tibial lesions like in primary or metastic tumor, Paget*s disease, Gaucher, etc. i) Osteomyelitis of the tibia j) Systemic infection or fever (unless unrelated to infection) k) Severe obesity; Weight>140 kg l) Allergy to lidocaine or alternative local anaesthetic used

Design outcomes

Primary

Measure	Time frame
The primary endpoint of the study is differences in phenotypic characteristics assessed in Stage 2 for a) individuals with genetically-determined low and high bone mineral density (BMD) sampled from the extremes of the PRSBMD distribution; and b) Mastocytosis patients	—

Secondary

Measure	Time frame
Other study parameters are: a) degree of randomization of population characteristics including genetically-determined ethnic background (European, East Asian, Sub-Saharan African) between the upper and lower 25% of the PRSBMD distribution; b) difference in life-style factors (physical activity, dietary intake) and stool microbiome profiles of individuals with genetically determined low and high BMD; c) localization of genotyped participants on a reference PRSBMD distribution of distinct molecular phenotypes, with emphasis on cases from the Mastocytose outpatient clinic; and d) patients *perspective on participating in a genetic study.	—

Measure

Time frame

Other study parameters are: a) degree of randomization of population characteristics including genetically-determined ethnic background (European, East Asian, Sub-Saharan African) between the upper and lower 25% of the PRSBMD distribution; b) difference in life-style factors (physical activity, dietary intake) and stool microbiome profiles of individuals with genetically determined *low* and *high* BMD; c) localization of genotyped participants on a reference PRSBMD distribution of distinct *molecular* phenotypes, with emphasis on cases from the Mastocytose outpatient clinic; and d) patients *perspective on participating in a genetic study.

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Countries

Netherlands

Outcome results