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Eliglustat Monotherapy in Pediatric patients with Gaucher Disease type 1 and type 3

Pharmacokinetics, Pharmacodynamic and efficacy assessment of Eliglustat Monotherapy in Paediatric Patients with Gaucher Disease Type 1 and type 3: A single-arm interventional trial - ELEGANT

Status
Active, not recruiting
Phases
Unknown
Study type
Interventional
Source
CTRI
Registry ID
CTRI/2026/01/100655
Enrollment
38
Registered
2026-01-09
Start date
Unknown
Completion date
Unknown
Last updated
2026-02-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Health Condition 1: E752- Other sphingolipidosis

Interventions

Intervention1: Eliglustat: All moleularly proven GD type 1 and type 3 patients will be screened using CYP2D6 genotyping,Study drug administration will be done as per the pediatric dose of Eliglustat a
25-50kg - 84mg BD for EM, IM and 42mg OD for PM
15-25kg 42mg BD in EM, IM and 21mg OD for PM).Pharmacokinetics and pharmacodynamics of Eliglustat and its efficacy will be assessed in children. Control Intervention1: NIL: NIL

Sponsors

ICMR
Lead Sponsor

Eligibility

Inclusion criteria

Inclusion criteria: Patients aged 6 to 18 years with enzyme and molecular proven GD type 1 or GD type 3 after informed consent.

Exclusion criteria

Exclusion criteria: 1. Concomitant untreated vitamin D deficiency 2. Neuroregression or epilepsy as a part of manifestations of GD3 (as GD3 with predominantly visceral manifestations are expected to show response) 3. Concomitant antiarrhythmic medications (Class IA, class III) (Eliglustat is contraindicated in these patients or with pre-existing cardiac disease) 4. Severe or moderate hepatic impairment (Child-Pugh class C or B respectively) in CYP2D6 extensive metabolisers 5. End-stage renal disease in CYP2D6 extensive/ intermediate/poor metabolisers 6. Mild, moderate or severe renal impairment in CYP2D6 intermediate or poor metabolisers 7. Partial or total splenectomy (because spleen volume is our primary outcome measurement) 8. Any other substrate reduction therapy for GD received till 6months before the start of treatment 9. CYP2D6 ultra-rapid or indeterminate metaboliser

Design outcomes

Primary

MeasureTime frame
Primary outcome 1: Pharmacokinetic parameter assessment Maximum concentration in plasma Trough levels of the drug Primary outcome 2: Change in spleen volume Timepoint: Primary outcome 1: 0, 0.5, 1, 2, 3, 4, 6, 8, 12 and 24 hrs following first dose of Eliglustat Every fortnightly thereafter (till 6 months) Primary outcome 2 Baseline and then annually—

Secondary

MeasureTime frame
Adverse effectsTimepoint: From start of study till 30 months of study period;Change in liver volumeTimepoint: Baseline and then annually;Change in hemoglobinTimepoint: Baseline and then 3 monthly;Change in platelet counTimepoint: Baseline and then 3 monthly;Change in mSST scoreTimepoint: Baseline and then annually;Change in PGS3 scoreTimepoint: Absolute change in PGS3 score;Change in skeletal involvementTimepoint: Baseline and then annually;Change in levels of plasma Chitotriosidase activity (nmol/hr/ml)Timepoint: Baseline and then 6 monthly;Change in levels of plasma Lyso-Gb1 ( g/mL)Timepoint: Baseline and then 6 monthly—

Countries

India

Contacts

Public ContactNeerja Gupta

AIIMS, New Delhi

neerja17aiims@aiims.edu9868397529

Outcome results

None listed

Source: CTRI (via WHO ICTRP) · Data processed: Feb 7, 2026