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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2024

Open Access 01-12-2024 | Bisphosphonate | Research

The effects of etidronate on brain calcifications in Fahr’s disease or syndrome: rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trial

Authors: Birgitta MG Snijders, Gini Mathijssen, Mike JL Peters, Marielle H Emmelot-Vonk, Pim A de Jong, Susan Bakker, Heleen A Crommelin, Ynte M Ruigrok, Eva H Brilstra, Vera PM Schepers, Wilko Spiering, Evelien van Valen, Huiberdina L Koek

Published in: Orphanet Journal of Rare Diseases | Issue 1/2024

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Abstract

Background

Fahr’s disease and syndrome are rare disorders leading to calcification of the small arteries in the basal ganglia of the brain, resulting in a wide range of symptoms comprising cognitive decline, movement disorders and neuropsychiatric symptoms. No disease-modifying therapies are available. Studies have shown the potential of treatment of ectopic vascular calcifications with bisphosphonates. This paper describes the rationale and design of the CALCIFADE trial which evaluates the effects of etidronate in patients with Fahr’s disease or syndrome.

Methods

The CALCIFADE trial is a randomised, placebo-controlled, double-blind trial which evaluates the effects of etidronate 20 mg/kg during 12 months follow-up in patients aged ≥ 18 years with Fahr’s disease or syndrome. Etidronate and placebo will be administered in capsules daily for two weeks on followed by ten weeks off. The study will be conducted at the outpatient clinic of the University Medical Center Utrecht, the Netherlands. The primary endpoint is the change in cognitive functioning after 12 months of treatment. Secondary endpoints are the change in mobility, neuropsychiatric symptoms, volume of brain calcifications, dependence in activities of daily living, and quality of life.

Results

Patient recruitment started in April 2023. Results are expected in 2026 and will be disseminated through peer-reviewed journals as well as presentations at national and international conferences.

Conclusions

Fahr’s disease and syndrome are slowly progressive disorders with a negative impact on a variety of health outcomes. Etidronate might be a new promising treatment for patients with Fahr’s disease or syndrome.

Trial registration

ClinicalTrials.gov, NCT05662111. Registered 22 December 2022, https://​clinicaltrials.​gov/​ct2/​show/​NCT01585402.
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Metadata
Title
The effects of etidronate on brain calcifications in Fahr’s disease or syndrome: rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trial
Authors
Birgitta MG Snijders
Gini Mathijssen
Mike JL Peters
Marielle H Emmelot-Vonk
Pim A de Jong
Susan Bakker
Heleen A Crommelin
Ynte M Ruigrok
Eva H Brilstra
Vera PM Schepers
Wilko Spiering
Evelien van Valen
Huiberdina L Koek
Publication date
01-12-2024
Publisher
BioMed Central
Keyword
Bisphosphonate
Published in
Orphanet Journal of Rare Diseases / Issue 1/2024
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-024-03039-7

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