Actively Recruiting
Treatment of Ectopic Calcification in Fahr's Disease or Syndrome
Led by UMC Utrecht · Updated on 2026-03-02
98
Participants Needed
2
Research Sites
243 weeks
Total Duration
On this page
Sponsors
U
UMC Utrecht
Lead Sponsor
N
Netherlands Brain Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
Fahr's disease or syndrome are neurodegenerative diseases in which patients present with bilateral vessel associated calcifications in the basal ganglia. The clinical penetration of Fahr's disease or syndrome is incomplete and heterogeneous comprising of neuropsychiatric signs, cognitive decline, movement disorders, and various other signs (migraine, speech disorders, pain, seizures). The symptoms start between 30 and 50 years and are (slowly) progressive. Symptomatic patients have an increased risk for dependence in activities of daily living and impaired quality of life. Currently, disease-modifying therapies are not available for patients with Fahr's disease or syndrome. However, in a small case series it was shown that alendronate was effective in the clinical treatment of several patients with Fahr's disease or syndrome. Now the time has come to investigate the effectiveness of treatment with bisphosphonates in patients with Fahr's disease or syndrome in a randomized controlled trial.
CONDITIONS
Official Title
Treatment of Ectopic Calcification in Fahr's Disease or Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age of 18 years or over
- Clinical diagnosis of Fahr's disease or syndrome based on clinical symptoms
- Bilateral basal ganglia calcifications seen on a CT scan exceeding age-specific thresholds
- Supportive family history with at least one first or second degree relative with PFBC symptoms
- Presence of a likely pathogenic mutation in known PFBC-related genes (SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, JAM2)
You will not qualify if you...
- Unable or unwilling to sign informed consent
- Severe kidney impairment with eGFR below 30 ml/min/1.73m2
- Contraindication to oral medication such as severe swallowing difficulties
- Known esophageal abnormalities interfering with drug passage
- Known sensitivity to etidronate
- Pregnancy, breastfeeding, or active pregnancy wish within one year
- Inability to complete Dutch neuropsychological assessment due to language or sensory impairments
- Any medical or social condition posing risk or affecting study data interpretation
- Use of bisphosphonates in the last 5 years
- Low calcium levels (hypocalcaemia below 2.20 mmol/L)
- Vitamin D deficiency (25-OH vitamin D below 35 nmol/L) unless corrected prior to participation
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 2 locations
1
University Medical Center Utrecht
Utrecht, Utrecht, Netherlands, 3584 CX
Actively Recruiting
2
University College London Hospital
London, United Kingdom
Not Yet Recruiting
Research Team
H
Huiberdina L Koek, MD PhD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
QUADRUPLE
Allocation
RANDOMIZED
Model
PARALLEL
Primary Purpose
TREATMENT
Number of Arms
2
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