Evaluation of Bone Metabolism in Children and Adolescents With Familial Mediterranean Fever

NCT06034795 | Unknown

• 1 other identifier: q3e689cu
• Study Type: observational
• Target: 62
• Locations: 1 country
• Sites: 1

Brief Summary

Familial Mediterranean Fever is a chronic auto-inflammatory disease. In the context of chronic inflammation, it seems that, among others, it also affects bone density in children. Bone loss may be due to subclinical inflammation that persists even during periods of remission. In addition, inflammatory cytokines also play an important role (mainly during episodes) resulting in an increase in bone degradation and ultimately a reduction in bone mass. Cytokines mainly associated with bone degradation and osteoclast activity are: IL-1R, IL-2, IL-6, IL-8, TNFa. The purpose of this study is to determine the effect of FMF on bone density and to compare the results with a healthy population. In addition, the difference between the children with FMF will be studied according to the mutation they carry.

Conditions

Familial Mediterranean Fever

Keywords

Familial Mediterranean Fever; Bone mineral density; Low vitamin D; DEXA

Outcome Measures

Primary Outcomes (3)

• Effect of chronic inflammation of FMF on bone metabolism

  This study will include 62 children, 31 healthy and 31 with FMF. All children will undergo: 1\. Blood examination that will include check of calcium metabolism, Vitamin D levels, kidney function, hormonal control, thyroid function control. Biomarkers of the RANK/RANKL/OPG, which have a major role in osteoblast/osteoclast activity, will be tested. The subjects will be devided according to gender and age: 2 age groups: a) 6-12 years, b) 12 - 20 years. All the parameters will be compared to check if there is statistically significant difference between healthy children and children with FMF.

  The evaluation of bone mineral density will take place for children with FMF at attack free periods and for control group at periods that they are completely healthy. The maximun duration of the above control will be 24 hours.

• Effect of chronic inflammation of FMF on bone density

  All children will undergo: 2\. Bone density measurment by Dual Energy X-ray Absorptiometry (the most reliable method for imaging bone density and with the minimum radiation). We will check z-score of Lumbar spine and z-score of Total Body Less Head.

  The evaluation of bone mineral density will take place for children with FMF at attack free periods and for control group at periods that they are completely healthy. The maximun duration of the above control will be 24 hours.

• Effect of obesity on chronic inflammation of FMF

  We will measure Body Mass Index (BMI) in all subjects. We will measure weight in kilograms (kg) and height in meters (m) to arrive at one reported value of BMI in kg/m\^2.

  The evaluation of bone mineral density will take place for children with FMF at attack free periods and for control group at periods that they are completely healthy. The maximun duration of the above control will be 24 hours.

Study Arms (2)

Patients

32 patients with Familial mediterranenan fever will participate. In these patients we will check bone mineral density using the dexa method. Blood tests will also be taken to assess calcium metabolism. All patients will be treated with colchicine.

Control group

Healthy children will be used as control group. MEFV gene will be checked to exclude diagnosis of FMF. In these patients we will check bone mineral density using the dexa method. Blood tests will also be taken to assess calcium metabolism. The results from the two groups will be compared.

Eligibility Criteria

• Age: 6 Years - 20 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Two groups will be used: patients and control group. The results from blood examination and DEXA will be compared in order to check differences in bone mineral density betwwen the two groups.

You may qualify if:

• For patients:
• Age \> 6 years
• BMI 3rd - 90th percentile
• Meet the Tel Hashomer criteria (Avi Linhnen 1997)
• Confirmed diagnosis by finding mutation(s) in the MEFV gene
• Taking medication (colchicine) for at least 3 months
• Normal physical activity during the last month, according to the questionnaire that will be distributed
• Free individual history for bone diseases
• Normal thyroid function
• For the control group:
• Age \> 6 years
• BMI 3rd - 90th percentile
• Free individual history for bone diseases
• Normal physical activity according to the questionnaire
• Normal thyroid function

You may not qualify if:

• For patients:
• Age \< 6 years
• BMI \< 3rd or \> 90th percentile
• Period of attack period of the disease
• Those who have not started treatment with colchicine
• Those who do not adapt well to taking colchicine
• Decreased physical activity during the last month according to the questionnaire
• Finding from the history of bone diseases that could affect the results
• Taking vitamins that could affect the results
• Existence of a factor that does not allow the performance of Dexa (when for example the safe and appropriate placement of the child cannot be ensured)
• History of previous surgery which forced the patient to be bedridden for a significant period of time. Possible unreliable result of bone mineral density measurement due to reduced physical activity.
• For the control group:
• Age \< 6 years
• BMI \< 3rd or \> 90th percentile
• Taking vitamins that could affect the results

Sponsors & Collaborators

• Aristotle University Of Thessaloniki: lead
• Papageorgiou General Hospital: collaborator

Study Sites (1)

Papageorgiou General Hospital

Thessaloniki, Municipality of Pavlou Mela, 56403, Greece

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be tested for MEFV.

MeSH Terms

Conditions

Familial Mediterranean Fever

Condition Hierarchy (Ancestors)

Hereditary Autoinflammatory Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Maria Fotoulaki, Professor

  Papageorgiou General Hospital

  STUDY CHAIR

• Effimia Papadopoulou, Professor

  Papageorgiou General Hospital

  STUDY DIRECTOR

• Christina Chaintari, Pediatrician

  Papageorgiou General Hospital

  PRINCIPAL INVESTIGATOR

• Assimina Galli, Professor

  AHEPA General Hospital

  STUDY CHAIR

Central Study Contacts

Christina Chaintari, Pediatrician

CONTACT

6970680667; christinachaintari@gmail.com

Effimia Papadopoulou, Professor

CONTACT

6977813869; papadoef@auth.gr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 5, 2023
• First Posted: September 13, 2023
• Study Start: January 8, 2022
• Primary Completion: January 1, 2024
• Study Completion: January 1, 2025
• Last Updated: September 13, 2023

Record last verified: 2023-09

Locations

GR (1)