TY - JOUR
T1 - The effects of etidronate on brain calcifications in Fahr's disease or syndrome
T2 - rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trial
AU - Snijders, Birgitta Mg
AU - Mathijssen, Gini
AU - Peters, Mike Jl
AU - Emmelot-Vonk, Marielle H
AU - de Jong, Pim A
AU - Bakker, Susan
AU - Crommelin, Heleen A
AU - Ruigrok, Ynte M
AU - Brilstra, Eva H
AU - Schepers, Vera Pm
AU - Spiering, Wilko
AU - van Valen, Evelien
AU - Koek, Huiberdina L
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024/2/7
Y1 - 2024/2/7
N2 - 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 .
AB - 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 .
KW - Activities of Daily Living
KW - Basal Ganglia Diseases/complications
KW - Brain
KW - Calcinosis
KW - Etidronic Acid/therapeutic use
KW - Humans
KW - Neurodegenerative Diseases
KW - Quality of Life
KW - Brain calcifications
KW - Randomised-controlled trial
KW - Fahr’s syndrome
KW - Cognitive functioning
KW - Etidronate
KW - Fahr’s disease
KW - Primary Familial Brain Calcification
UR - http://www.scopus.com/inward/record.url?scp=85184696596&partnerID=8YFLogxK
U2 - 10.1186/s13023-024-03039-7
DO - 10.1186/s13023-024-03039-7
M3 - Article
C2 - 38326858
SN - 1750-1172
VL - 19
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 49
ER -