Eliglustat (Cerdelga) is a glucosylceramide synthase inhibitor indicated for the long-term treatment of Type 1 Gaucher Disease (GD1) in adults. Its efficacy and safety are highly dependent on individualized medication regimens.

Precautions for Eliglustat (Cerdelga) Administration

1. Patient Metabolic Genotyping Test

Necessity: Before initiating treatment, patients must undergo FDA-approved CYP2D6 genetic testing to determine their metabolic phenotype (Extensive Metabolizers [EMs], Intermediate Metabolizers [IMs], or Poor Metabolizers [PMs]). Ultra-Rapid Metabolizers (URMs) are contraindicated due to insufficient drug concentrations, and no recommended dosage is available for patients with undetermined metabolic phenotypes.

Dosage Differences: EMs and IMs require twice-daily administration (84 mg per dose), while PMs only need once-daily administration (84 mg).

2. Contraindication Screening

EMs/IMs are prohibited from concurrent use of strong/moderate CYP2D6 inhibitors and strong/moderate CYP3A inhibitors.

PMs are contraindicated for use with strong CYP3A inhibitors (e.g., ketoconazole).

Liver Function Contraindications: Patients with moderate to severe liver impairment are contraindicated. Patients with mild liver impairment are also contraindicated if they are concurrently using CYP2D6 inhibitors.

3. Dosage Adjustments for Special Populations

Hepatic Impairment: Patients with mild liver impairment require dosage adjustments based on their metabolic phenotype and concurrent medications (e.g., EMs should switch to once-daily administration when using weak CYP3A inhibitors).

Renal Impairment: EMs with end-stage renal disease (ESRD) should avoid using this medication; IMs/PMs with renal impairment of any severity are contraindicated.

4. Management of Drug Interactions

CYP Inhibitors/Inducers: Strong CYP3A inducers (e.g., rifampicin) may reduce drug efficacy and should be avoided in combination.

P-gp/CYP2D6 Substrates: For P-gp substrates such as digoxin, plasma drug concentrations should be monitored, and a 30% dosage reduction is necessary if indicated.

Food Contraindications: Grapefruit and its products (strong CYP3A inhibitors) should be avoided.

5. Cardiac Safety Monitoring

High-Risk Populations: Patients with a history of heart disease, long QT syndrome, or those using Class IA/III antiarrhythmic drugs should avoid using this medication.

Symptom Warnings: If palpitations, syncope, or dizziness occur, an electrocardiogram (ECG) should be performed immediately, and treatment adjustments made accordingly.

Monitoring for Eliglustat (Cerdelga) Administration

1. Tracking of Efficacy Indicators

Visceral Volume: Imaging assessments of spleen/liver volume changes should be conducted every 6–12 months (target: >30% reduction in spleen size, stable liver size).

Hematological Parameters: Regular monitoring of hemoglobin (target: ≥12 g/dL for males, ≥11 g/dL for females) and platelet count (target: ≥100×10⁹/L) is required.

2. Monitoring of Adverse Reactions

Common Reactions: Fatigue (14%), headache (13%), nausea (12%), diarrhea (12%), back pain (12%), etc. Most are mild to moderate in severity.

Cardiac Events: Patients on long-term treatment require regular ECG examinations to monitor the risk of PR/QT interval prolongation.