Primary Familial Brain Calcification (PFBC)

There is no known treatment for primary familial brain calcification (PFBC), and the treatment remains focused solely on managing symptoms. At Protheragen, we are committed to creating advanced therapeutics and designing precise animal models capable of accelerating the preclinical studies of prospective therapies for PFBC. With Protheragen, clients can be sure that their research will receive the highest quality assistance, thus expediting the timeline for their drug development.

Introduction to Primary Familial Brain Calcification (PFBC)

Primary familial brain calcification (PFBC), or Fahr's disease, is a rare form of neurodegenerative disorder defined by the progressive development of bilateral calcifications within the basal ganglia, thalamus, cerebellum, and the white matter of the brain. PFBC is clinically differentiated by a range of neurological and psychiatric symptoms, which include movement disorders, cognitive impairment, and psychogenic features.

Fig.1 This graphic summarizes the main symptoms of primary familial brain calcification (PFBC), the associated genes, and the disease mechanisms related to NAA60. (Chelban V, et al., 2024)

Pathogenesis of Primary Familial Brain Calcification (PFBC)

Primary familial brain calcification (PFBC) stems mainly from mutations in phosphate homeostasis genes (SLC20A2, XPR1), neurovascular integrity (PDGFB/PDGFRB), or cell adhesion (MYORG/JAM2) which result in abnormal calcium-phosphate deposition in the basal ganglia and other brain areas secondary to blood-brain barrier breakdown and modified brain barrier metabolism.

Fig.2 Schematic representation of the molecular mechanisms related to primary familial brain calcification (PFBC)-genes. (Monfrini E, et al., 2023)

Therapeutic Development for Primary Familial Brain Calcification (PFBC)

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

Protheragen is a frontrunner in research related to rare neurometabolic diseases, offering full-spectrum preclinical services to advance therapeutics for primary familial brain calcification (PFBC) from discovery to validation. We employ specialized genetic and modeling techniques to accurately replicate disease pathophysiology for study and intervention. We also utilize sophisticated blood-brain barrier (BBB) models for off-target effect evaluation and for central nervous system (CNS) drug delivery optimization with respect to neuroprotection and neurotherapeutics.

Therapeutic Development Services

By Molecule Types

• Small Molecule Drug Development
• Cell Therapy Development
• Gene Therapy Development

• Therapeutic Antibody Development
• Therapeutic Peptide Development
• Therapeutic Protein Development

By Mechanism of Action

• Neuroprotective Agent Development
• Glutamate Modulator Development
• Anti-neuroinflammatory Drug Development
• Antioxidant Development

• Mitochondria-targeted Drug Development
• Protein Misfolding Inhibitor Development
• Protein Aggregation Inhibitor Development
• Excitotoxicity Inhibitor Development

Disease Model Development Services

In Vitro Model Development

• Patient-Derived Cell Model
• Neuronal Cell Model
• Glial Cell Model
• Co-Culture Model
• Brain Organoid
• Spinal Cord Organoid

Microfluidic Model Development

• Neurovascular Unit (NVU) Model
• Axon Degeneration Model
• Neuroinflammation Model
• Neuromuscular Junction (NMJ) Model
• Synaptic Plasticity Model
• Organoid-on-a-Chip Model

Animal Model Development

• Slc20a2 Knockout Model: Recapitulates PFBC through complete loss of the phosphate transporter PiT2, leading to progressive brain calcification in the basal ganglia.
• Myorg Knockdown Model: Targets MYORG deficiency, demonstrating astrocyte dysfunction and perivascular calcifications.