Fahr's disease primary familial brain calcification
Conditions
Interventions
Treatment with etidronate during one year (cyclical 20 mg/kg for 2 weeks on and
10 weeks off) or placebo.
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Age of 18 years or over. 2. 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. Clinical symptoms consistent with a clinical diagnosis of Fahr*s disease or syndrome. b. Bilateral 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. Furthermore, the next criteria are supportive for the clinical diagnosis of Fahr's disease: c. Frequently, 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 Fahr*s disease is supportive for the clinical diagnosis of Fahr*s disease. d. The presence of a (likely) pathogenic mutation in one of the Fahr*s disease-related genes is supportive for the clinical diagnosis of Fahr*s disease. Mutations in up to now four 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
Exclusion criteria: 1. Unable or unwilling to sign an informed consent. 2. Severe renal impairment (estimated creatinine clearance/eGFR of
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Primary outcome: change in cognitive functioning of patients with Fahr*s disease or syndrome treated with etidronate or placebo between baseline and 12 months after baseline. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary outcomes: change in mobility, psychiatric symptoms, daily functioning, quality of life, and calcification in the brain of patients with Fahr*s disease or syndrome treated with etidronate or placebo between baseline and 12 months after baseline. | — |
Countries
Netherlands
Outcome results
None listed