etidronate disodium for Fahr's disease | Fahr's syndrome

Inclusion criteria

• {"criterion_text":"- Age of 18 years or over\n- Clinical diagnosis of Fahr’s disease or syndrome. No international accepted diagnostic criteria for Fahr’s disease or syndrome exist yet. It is diagnosed mostly based on the clinical presentation. For the present study the following criteria are used: a.\tClinical symptoms consistent with a clinical diagnosis of Fahr’s disease or syndrome. b.\tBilateral calcifications of the basal ganglia as seen on the CT scan of the head. To rule out basal ganglia calcifications due to aging, a CT based calcification score will be used as proposed by Nicolas et al. Calcification is graded from 0 (no calcification) to 5 (serious and confluent) in specific locations of the brain; lenticular, caudate, thalamus nuclei, subcortical white matter, cortex, cerebellar hemispheres, vermis, midbrain, pons, and medulla. The total calcification score (ranging from 0 to 80) is obtained by adding all location-specific points, where a score higher than the age-specific threshold points at Fahr’s disease or syndrome.\n- Supportive criteria for the clinical diagnosis of PFBC: c.\tFrequently, the family history is consistent with autosomal dominant inheritance. A positive family history with at least one relative in the first or second degree with symptoms of PFBC is supportive for the clinical diagnosis of PFBC. d.\tThe presence of a (likely) pathogenic mutation in one of the PFBC-related genes is supportive for the clinical diagnosis of PFBC. Mutations in up to now 4 known genes are associated with an autosomal dominant pattern of inheritance: SLC20A2 (OMIM#213600), XPR1 (OMIM#616413), PDGFB (OMIM#615483), and PDGFRB (OMIM#615007). Autosomal recessively inherited PFBC is associated with mutations in two genes: MYORG (OMIM#618317) and JAM2 (OMIM#618824)."}

Exclusion criteria

• {"criterion_text":"- Unable or unwilling to sign an informed consent.\n- 25-OH vitamin D deficiency <35 nmol/L) (After correcting the vitamin D deficiency, a participant is again suitable for participation in the CALCIFADE trial, as long as the participant meets the inclusion criteria.\n- Severe renal impairment (estimated creatinine clearance/eGFR of < 30 ml/min/1.73m2 calculated using CKD-EPI equation).\n- Contraindication to receiving oral medication.\n- Known abnormality of the esophagus that would interfere with the passage of the drug.\n- Known sensitivity to etidronate.\n- Pregnancy, women with an active pregnancy wish < 1 year, or women who are breastfeeding at the time of inclusion.\n- Any other medical or social condition that, in the opinion of the Principal Investigator, might put the subject at risk of harm during the study or might adversely affect the interpretation of the study data.\n- Use of bisphosphonate during last 5 years.\n- Hypocalcemia (calcium <2,20 mmol/L) (After correcting the hypocalcemia, a participant is again suitable for participation in the CALCIFADE trial, as long as the participant meets the inclusion criteria.)"}

Primary endpoints

• {"endpoint_text":"- Change in cognitive functioning of patients with Fahr’s disease or syndrome treated with etidronate or placebo between baseline and 12 months after baseline.","definition_or_measurement_approach":""}

Secondary endpoints

• {"endpoint_text":"- Change in mobility of patients with Fahr’s disease or syndrome treated with etidronate or placebo between baseline and 12 months after baseline.","definition_or_measurement_approach":""}
• {"endpoint_text":"- Change in psychiatric symptoms of patients with Fahr’s disease or syndrome treated with etidronate or placebo between baseline and 12 months after baseline.","definition_or_measurement_approach":""}
• {"endpoint_text":"- Change in daily functioning of patients with Fahr’s disease or syndrome treated with etidronate or placebo between baseline and 12 months after baseline.","definition_or_measurement_approach":""}
• {"endpoint_text":"- Change in quality of life of patients with Fahr’s disease or syndrome treated with etidronate or placebo between baseline and 12 months after baseline.","definition_or_measurement_approach":""}
• {"endpoint_text":"- Change in calcification in the brain of patients with Fahr’s disease or syndrome treated with etidronate or placebo between baseline and 12 months after baseline.","definition_or_measurement_approach":""}

Netherlands

Earliest CTIS Part Ii Submission Date

24-09-2024

Latest Decision Or Authorization Date

03-10-2024

Processing Time Days

9

Number Of Sites

1

Number Of Participants

98

Primary sponsor

Full Name

Universitair Medisch Centrum Utrecht

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Netherlands