What is etidronate studying for Fahr's disease or syndrome?

Etidronate is being studied to see if it can affect the abnormal brain calcifications seen in Fahr's disease or syndrome. Researchers want to understand whether this treatment can improve cognitive function and other symptoms related to the condition. The study is sponsored by UMC Utrecht and uses a controlled trial to compare etidronate with a placebo.

Who may be eligible for this Fahr's disease or syndrome clinical trial?

Adults aged 18 years or older with a clinical diagnosis of Fahr's disease or syndrome may be eligible. The study includes all genders and excludes those with recent bisphosphonate use, severe kidney problems, or pregnancy. Please review eligibility criteria for more details.

Is there any cost to participate in this Fahr's disease or syndrome clinical trial?

Study-related care, including the study drug or procedure and all trial visits, is provided at no cost. Personal travel expenses may vary and are not guaranteed to be covered. Participants should plan accordingly for any travel arrangements.

Actively Recruiting

Phase 2

Age: 18Years +

All Genders

ID05662111

A Randomized, Placebo-controlled, Double-blind Trial to Study the Effects of Etidronate on Ectopic Calcification in Fahrs Disease or Syndrome

Led by UMC Utrecht · Updated on 2026-03-02

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Fahrs disease and syndrome are neurodegenerative conditions characterized by bilateral calcifications in the basal ganglia, leading to symptoms like neuropsychiatric issues, cognitive decline, movement disorders, and other signs such as migraines and seizures. Symptoms typically begin between ages 30 and 50 and progress slowly, increasing the risk of dependence in daily activities and reducing quality of life. There are currently no disease-modifying treatments available for these conditions, but previous small studies suggest bisphosphonates like alendronate may help. This trial is a randomized, placebo-controlled, double-blind study evaluating the effect of etidronate, a bisphosphonate, on ectopic calcification in patients with Fahrs disease or syndrome. Participants will receive either etidronate at 20 mgkg or placebo orally in capsules for two weeks followed by a ten-week break, repeated over 12 months. The study includes four treatment periods of two weeks each within the year. Participants will undergo cognitive and neuropsychiatric assessments, evaluations of mobility, daily living activities, and quality of life at 12 months. Brain imaging will measure calcification volume. The primary outcomes focus on various cognitive functions including memory, attention, executive functioning, and social cognition. Secondary outcomes assess mobility, neuropsychiatric symptoms, daily functioning, and quality of life. The trial includes close monitoring and lasts for one year.

CONDITIONS

Brief Title

Treatment of Ectopic Calcification in Fahr's Disease or Syndrome

Who Can Participate

Age: 18Years +

All Genders

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 consistent with the disease
Bilateral calcifications of the basal ganglia on CT scan exceeding age-specific thresholds
Family history consistent with autosomal dominant inheritance of PFBC (supportive)
Presence of a likely pathogenic mutation in PFBC-related genes (supportive)

You will not qualify if you...

Unable or unwilling to sign informed consent
Severe renal impairment (eGFR <30 ml/min/1.73m2)
Contraindication to oral medication (e.g., severe dysphagia)
Abnormality of the oesophagus affecting drug passage (e.g., strictures, achalasia)
Known sensitivity to etidronate
Pregnancy, active pregnancy wish within 1 year, or breastfeeding
Inability to undergo Dutch neuropsychological assessment
Any medical or social condition that increases risk or affects study data interpretation
Use of bisphosphonates in the last 5 years
Hypocalcaemia (calcium <2.20 mmol/L)
Vitamin D deficiency (25-OH vitamin D <35 nmol/L), corrected values allowed for participation

Research Team

Huiberdina L Koek, MD PhD

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