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CTRI Number  CTRI/2026/01/100655 [Registered on: 09/01/2026] Trial Registered Prospectively
Last Modified On: 09/01/2026
Post Graduate Thesis  No 
Type of Trial  Interventional 
Type of Study   Drug 
Study Design  Single Arm Study 
Public Title of Study   Eliglustat Monotherapy in Pediatric patients with Gaucher Disease type 1 and type 3  
Scientific Title of Study   Pharmacokinetics, Pharmacodynamic and efficacy assessment of Eliglustat Monotherapy in Paediatric Patients with Gaucher Disease Type 1 and type 3: A single-arm interventional trial 
Trial Acronym  ELEGANT 
Secondary IDs if Any  
Secondary ID  Identifier 
NIL  NIL 
 
Details of Principal Investigator or overall Trial Coordinator (multi-center study)  
Name  Neerja Gupta 
Designation  Professor 
Affiliation  AIIMS, New Delhi 
Address  Room 840 Eighth Floor Division of Genetics, Department of Pediatrics Mother-child block AIIMS New Delhi New Delhi DELHI

New Delhi
DELHI
110029
India 
Phone  9868397529  
Fax    
Email  neerja17aiims@aiims.edu  
 
Details of Contact Person
Scientific Query  
Name  Neerja Gupta 
Designation  Professor 
Affiliation  AIIMS, New Delhi 
Address  Room 840 Eighth Floor Division of Genetics, Department of Pediatrics Mother-child block AIIMS New Delhi New Delhi DELHI

New Delhi
DELHI
110029
India 
Phone  9868397529  
Fax    
Email  neerja17aiims@aiims.edu  
 
Details of Contact Person
Public Query  
Name  Neerja Gupta 
Designation  Professor 
Affiliation  AIIMS, New Delhi 
Address  Room 840 Eighth Floor Division of Genetics, Department of Pediatrics Mother-child block AIIMS New Delhi New Delhi DELHI

New Delhi
DELHI
110029
India 
Phone  9868397529  
Fax    
Email  neerja17aiims@aiims.edu  
 
Source of Monetary or Material Support  
ICMR V. Ramalingaswami Bhawan, P.O. Box No. 4911Ansari Nagar, New Delhi - 110029, India 
 
Primary Sponsor  
Name  ICMR 
Address  Indian Council of Medical Research V. Ramalingaswami Bhawan, P.O. Box No. 4911 Ansari Nagar, New Delhi - 110029, India Ph: 91-11-26588895 / 91-11-26588980, 91-11-26589794 / 91-11-26589336, 91-11-26588707 Fax: 91-11-26588662 
Type of Sponsor  Government funding agency 
 
Details of Secondary Sponsor  
Name  Address 
NIL  NIL 
 
Countries of Recruitment     India  
Sites of Study  
No of Sites = 1  
Name of Principal Investigator  Name of Site  Site Address  Phone/Fax/Email 
Dr Neerja Gupta  AIIMS  Room No 840 Eighth floor, Division of Genetics, Department of Pediatrics Mother and Child Block , AIIMS, New Delhi South DELHI
New Delhi
DELHI 		 09868397529

neerja17aiims@aiims.edu 
 
Details of Ethics Committee  
No of Ethics Committees= 1  
Name of Committee  Approval Status 
Institute Ethics Committee, AIIMS  Approved 
 
Regulatory Clearance Status from DCGI  
Status 
Approved/Obtained 
 
Health Condition / Problems Studied  
Health Type  Condition 
Patients  (1) ICD-10 Condition: E752||Other sphingolipidosis,  
 
Intervention / Comparator Agent  
Type  Name  Details 
Intervention  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 approved by the EMA (50kg – 84mg BD for EM, IM and 84mg OD for PM; 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. 
Comparator Agent  NIL  NIL 
 
Inclusion Criteria  
Age From  6.00 Year(s)
Age To  18.00 Year(s)
Gender  Both 
Details  Patients aged 6 to 18 years with enzyme and molecular proven GD type 1 or GD type 3 after informed consent.
 
 
ExclusionCriteria 
Details  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
 
 
Method of Generating Random Sequence   Not Applicable 
Method of Concealment   Not Applicable 
Blinding/Masking   Not Applicable 
Primary Outcome  
Outcome  TimePoints 
Primary outcome 1:
Pharmacokinetic parameter assessment
Maximum concentration in plasma
Trough levels of the drug

Primary outcome 2:
Change in spleen volume

 		 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 Outcome  
Outcome  TimePoints 
Adverse effects  From start of study till 30 months of study period 
Change in liver volume  Baseline and then annually 
Change in hemoglobin  Baseline and then 3 monthly 
Change in platelet coun  Baseline and then 3 monthly 
Change in mSST score  Baseline and then annually  
Change in PGS3 score  Absolute change in PGS3 score 
Change in skeletal involvement  Baseline and then annually  
Change in levels of plasma Chitotriosidase activity (nmol/hr/ml)  Baseline and then 6 monthly  
Change in levels of plasma Lyso-Gb1 (µg/mL)  Baseline and then 6 monthly  
 
Target Sample Size   Total Sample Size="38"
Sample Size from India="38" 
Final Enrollment numbers achieved (Total)= "Applicable only for Completed/Terminated trials"
Final Enrollment numbers achieved (India)="Applicable only for Completed/Terminated trials" 
Phase of Trial   N/A 
Date of First Enrollment (India)   16/02/2026 
Date of Study Completion (India) Applicable only for Completed/Terminated trials 
Date of First Enrollment (Global)  Date Missing 
Date of Study Completion (Global) Applicable only for Completed/Terminated trials 
Estimated Duration of Trial   Years="3"
Months="0"
Days="0" 
Recruitment Status of Trial (Global)   Not Yet Recruiting 
Recruitment Status of Trial (India)  Not Yet Recruiting 
Publication Details   N/A 
Individual Participant Data (IPD) Sharing Statement

Will individual participant data (IPD) be shared publicly (including data dictionaries)?  

Response - YES
  1. What data in particular will be shared?
    Response - Individual participant data that underlie the results reported in this article, after de-identification (text, tables, figures, and appendices).

  2. What additional supporting information will be shared?
    Response -  Study Protocol
    Response -  Statistical Analysis Plan
    Response - Informed Consent Form

  3. Who will be able to view these files?
    Response - Researchers whose proposed use of the data has been approved by an independent review committee identified for this purpose.

  4. For what types of analyses will this data be available?
    Response - To achieve aims in the approved proposal.

  5. By what mechanism will data be made available?
    Response - Proposals should be directed to [neerja17aiims@aiims.edu].

  6. For how long will this data be available start date provided 01-01-2030 and end date provided 01-01-2033?
    Response - Beginning 9 months and ending 36 months following article publication.

  7. Any URL or additional information regarding plan/policy for sharing IPD? 
    Additional Information - NIL
Brief Summary   Deficiency of acid beta glucosidase in Gaucher disease GD underlies the accumulation of glucosylceramide in lysosomes of macrophages resulting in hepatosplenomegaly, anaemia, thrombocytopenia, & skeletal disease. Enzyme replacement therapy ERT is an established therapeutic modality requiring lifelong biweekly intravenous infusions. Eliglustat is a potent inhibitor of glucosylceramide synthase thereby reducing the synthesis of glucosylceramide. It is an oral substrate reduction therapy noted to be effective in both postERT & ERT nave adults. It is currently approved for equal or more than 18 years with GD type 1. In Pediatric population studies on the use of Eliglustat at doses of 42 mg in more than 25 kg & 21 mg in less than 25 kg in combination with ERT showed promising results in improving visceral manifestations in children with GD type 3 9 to 18 years. In addition, recent trials ELIKIDS suggest the safety profile of Eliglustat comparable to that of adults. It is also approved for children more than 6yrs, with weight equal or more than 15kg, stable on ERT with CYP2D6 Poor metaboliser or intermediate metaboliser or extensive metaboliser status by the European Medical Agency. Efficacy of eliglustat in improving visceral hematological bone health & biomarkers with a favourable safety profile has been described in a few ERT nave patients. We plan to evaluate the efficacy of Eliglustat monotherapy in ERT nave children with GD aged 6 to18 years , especially as a make in India eliglustat product is available. To conduct this study as a non inferiority study with ERT as the comparator was challenging as it would have required at least twice as many treatment cnave patients, which would not only pose significant enrolment challenges owing to the rarity but also have cost implications for conducting the present study. Similarly, a placebo-controlled trial will have similar issues in addition to the variable severity of GD that might result in acute or irreversible deterioration of placebo arm patients. 
As single-arm studies have been the mainstay of pivotal trials for rare metabolic & oncological drug research & Gaucher disease has a reliable natural history, we plan to perform a single-arm interventional trial in Paediatric GD type 1 & 3 to evaluate the pharmacokinetics & pharmacodynamics of Eliglustat & assess its efficacy in terms of attainment of objective endpoints. If successful it would be revolutionary for the management of Indian patients with paediatric GD. Novelty This study will evaluate the pharmacokinetics, pharmacodynamics, & efficacy of Eliglustat monotherapy in ERTnave paediatric patients with GD.Primary objectives 1     To evaluate the pharmacokinetics of Eliglustat in ERT nave children aged 6 to18 yrs with GD type 1 & type 3. 2 To assess the efficacy of Eliglustat monotherapy on spleen volume in the study cohort at 12 months post-therapy Secondary objectives1 To evaluate the safety of Eliglustat in ERT-nave children of 6 to 18 yrs with GD type 1 & type 32  To assess the efficacy of Eliglustat on the liver, disease severity scoring, bone, hematological, & biomarkers in the study cohort at 12 months post therapy.MethodsScreening of confirmed GD patients, screening for CYP2D6 genotyping using Oxford nanodrop technology followed by study of pharmacokinetics of Eliglustat using mass spectrometry pharmacodynamic study using biomarker assessment & efficacy evaluation by periodic clinical biochemical biomarker & disease burden assessment in response to the established pediatric dose.Preparatory phase From 6 month before to 0 months During the initial preparatory phase 6 months1. Staff will be recruited, & equipment & consumables for the study will be procured & standardised.2. Patients with molecularly proven GD types 1 & 3 evaluated at the study site will be screened for CYP2D6 polymorphisms & pharmacokinetic analysis.Study phase 0 to 36 months Pharmacokinetics analysis 0 to 6 months1. The initial 6 months of the study phase includes pharmacokinetic sampling & analysis in a set of study subjects n 6 to 12.Interim analysis & Data Safety & Monitoring Board DSMB clearance 6 monthly. 2.  After CYP2D6 genotyping, those with extensive metabolizer EM intermediate metabolizer IM & poor metabolizer PM status will be enrolled after informed consent for the pharmacokinetics’ study. After enrolment, study subjects will undergo baseline evaluation clinical haematological disease severity scoring, bone-health parameters & biomarkers as shown in Table 1 followed by study drug administration more than 50kg  84mg BD for EM IM & 84mg OD for PM 25 to 50kg 84mg BD for EM IM & 42mg OD for PM 15 to 25kg  42mg BD in EM IM & 21mg OD for PM  pediatric doses approved by EMABlood sampling will be done at 0, 0.5, 1, 2, 3, 4, 6, 8, 12, & 24 hours on day 1 & every fortnightly thereafter till the duration of study stage I. The concentration of Eliglustat will be analysed using LCMSMS. Using the estimated concentrations, pharmacokinetic studies will be performed to assess time to Cmax & Tmax, elimination half-life on samples collected within 24 hrs of first dose), & achievement of therapeutic range drug level 6 to 14 ng per ml. The therapeutic level analysis will be done based on trough-level analysis. Pk parameters such as Cmax, Tmax, T half, AUCt, AUC infinity, etc using PK analysis software. At the end of 6 months trough levels of Eliglustat will be analysed to estimate mean plasma concentration in EM or IM & PM patients respectively. The Data Safety & Monitoring Board DSMB will be convened for the first interim analysis will be performed at the end of PK testing at 6 months & then every 6 monthly. Assessment of efficacy & safety 6 to 18 monthsEnrolment of remaining patients at the calculated dose in the study phase will be done. They will be periodically assessed for pharmacodynamics biomarker levels, efficacy, & safety over 12 months Table 1.The efficacy of Eliglustat will be evaluated in terms of change from baseline to 12 months of spleen volume (primary outcome parameter, liver volume, haemoglobin, platelet count, disease severity scoring mSST score, PGS3 score, skeletal involvement & biomarkers secondary outcome parameters.  Efficacy analysis will be performed at the end of 12 months. Subjects with poor response or  worsening will be considered for the provision of alternate therapy with Enzyme replacement therapy under the National Rare Disease Policy 2021. Ethical clearance for the study will be sought under the Institute Ethics Committee.Safety will be assessed for the most common known or reported adverse effects of Eliglustat noted in previous trials in treatment nave GD1 patients Table 2 in addition to any novel adverse reactions.Follow-up assessments 19 to 30 months, 12 months Followup assessments will be performed over the next 12 months to monitor progression clinical, radiological, hematological parameters, disease severity scoring, & biomarkers & safety.Analysis 30 to 36months, 6 months Data interpretation & analysis will be performed followed by publication. Expected outcome Study results would help in Evaluating the fixed dose formulation of Eliglustat for Pediatric treatment nave GD patients & Establish, efficacy & safety of Eliglustat in ERT nave paediatric patients with GD 6 to 18yrs. The trial if successful, would be revolutionary for the management of Indian patients with paediatric GD. It will change the current treatment practices in the management of GD in paediatric patients using a make in India medicine thereby making treatment accessible, affordable, & easily administrable.  
 
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