Clinical Trials

Numerous clinical trials spanning Phase 1 through Phase 4 evaluate miglustat for lysosomal storage disorders—such as Gaucher disease, Pompe disease, GM1 and GM2 gangliosidoses, and Batten disease—alongside exploratory indications like male contraception. Supported by academic institutions, foundations, and industry sponsors including Amicus Therapeutics, Actelion, and the Beyond Batten Disease Foundation, these studies investigate pharmacokinetics and combination regimens across diverse pediatric and adult populations. Recruitment statuses across these trial protocols encompass completed, active, recruiting, and terminated studies.

NCT Number Recruitment Conditions Sponsor/Collaborators Start Date Phases
NCT07399704 RECRUITING
GM2 Gangliosidosis; Niemann-Pick Type C Disease
Azafaros B.V.
 2026-02-04 PHASE2
NCT04808505 RECRUITING
Glycogen Storage Disease Type II Infantile Onset
Amicus Therapeutics
 2023-07-18 PHASE3
NCT03911505 ACTIVE_NOT_RECRUITING
Pompe Disease (Late-onset)
Amicus Therapeutics
 2020-02-13 PHASE3
NCT03822013 TERMINATED
GM2 Gangliosidosis; Supportive Care
Tehran University of Medical Sciences
 2019-01-14 PHASE3
NCT05174039 COMPLETED
Batten Disease
Beyond Batten Disease Foundation
 2022-03-10 PHASE1; PHASE2
NCT03910621 COMPLETED
Niemann-Pick Disease, Type C
Actelion
 2020-04-02 PHASE4
NCT05174039 Active not recruiting
Batten Disease
Beyond Batten Disease Foundation|Theranexus
 2022-02-02 Phase 1|Phase 2
NCT04768166 COMPLETED
Hereditary Spastic Paraparesis
IRCCS Fondazione Stella Maris
 2021-06-15 PHASE2
NCT03729362 COMPLETED
Pompe Disease (Late-onset)
Amicus Therapeutics
 2018-12-04 PHASE3
NCT02030015 TERMINATED
GM1 Gangliosidoses; GM2 Gangliosidoses; Tay-Sachs Disease; Sandhoff Disease
University of Minnesota
 2015-12-22 PHASE4
NCT02520934 UNKNOWN
Gaucher Disease
National Taiwan University Hospital
 2015-07
NCT02325362 COMPLETED
Cystic Fibrosis
Assistance Publique - Hôpitaux de Paris
 2015-03-17 PHASE2; PHASE3
NCT02185651 Terminated
Pompe Disease|Hypersensitivity Reaction
University of Florida|Amicus Therapeutics
 2016-10 Phase 1
NCT01822028 COMPLETED
Diarrhea
Actelion
 2013-03 PHASE1
NCT00945347 COMPLETED
Cystic Fibrosis
Cliniques universitaires Saint-Luc- Université Catholique de Louvain
 2009-07 PHASE2
NCT01760564 COMPLETED
Niemann-Pick Disease Type C
National Taiwan University Hospital
 2008-01 PHASE3
NCT00319046 COMPLETED
Gaucher Disease Type 1
Actelion
 2006-02-01 PHASE3
NCT00418847 COMPLETED
Gangliosidoses GM2
The Hospital for Sick Children
 2004-07 PHASE2
NCT00742092 COMPLETED
Cystic Fibrosis
Actelion
 2008-08 PHASE2
NCT00537602 TERMINATED
Cystic Fibrosis
Actelion
 2007-11 PHASE2
NCT00672022 COMPLETED
GM2 Gangliosidoses; Tay-Sachs; Sandhoff Disease
Children's National Research Institute
 2004-07 PHASE3
NCT00517153 COMPLETED
Niemann-Pick Type C Disease
Actelion
 2002-01 PHASE2
NCT00194649 COMPLETED
Contraception
University of Washington
 2005-06 PHASE4
NCT00194649 Completed
Contraception
University of Washington|Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
 2005-06 Phase 4
NCT00418847 Completed
Gangliosidoses GM2
The Hospital for Sick Children|Actelion
 2004-07 Phase 2

(data from https://clinicaltrials.gov, updated on 2026-06-18)

Check the Miglustat (N-Butyldeoxynojirimycin) product page for in-depth specifications, including solubility, stock solutions, MOA, and working concentrations.

Compliance for Clinical Use

Mechanism and Biochemical Profile

Miglustat acts as a competitive inhibitor of ceramide glucosyltransferase, blocking the initial step in glycosphingolipid biosynthesis and preventing the accumulation of toxic glucocerebroside substrate within lysosomal compartments. By reducing upstream substrate synthesis, this compound mitigates cellular substrate overload and lysosomal dysfunction, providing therapeutic utility in lysosomal storage disorders such as Gaucher disease, Pompe disease, and GM2 gangliosidoses.

Appendix RUO and cGMP Quality Standards

Quality Dimension RUO (Research Use Only) cGMP (Current Good Manufacturing Practice)
Clinical Applicability Prohibited in human clinical trials or medical diagnostics. Mandatory for human clinical trials (Phase I–III) and therapies.
Regulatory Status Non-regulated grade; exempt from drug manufacturing laws. Legally enforced by health authorities (e.g., FDA, EMA, NMPA).
Facility Environment Unclassified analytical or research laboratories. Validated Cleanrooms (ISO Class 5–8) with continuous monitoring.
Quality Control Basic purity and activity testing. Rigorous safety release testing (Sterility, Endotoxin, Mycoplasma).
Process Validation Basic equipment calibration; no process validation required. Full qualification (IQ/OQ/PQ) and complete batch records.
Quality Assurance Vendor self-declared without required formal QMS. Mandatory QA/QC unit, Change Control, CAPA, and vendor audits.
Regulatory Impact High risk of IND rejection if used as a critical raw material. Required for IND/NDA filings, supported by Drug Master Files (DMF).

Footnotes

Regulatory Note: Governed by FDA (21 CFR Parts 210/211/312), EMA (EudraLex Vol 4), ICH Guidelines (E6/Q7/Q9/Q10), and compendial standards (USP <71>/<85>/<1043>).

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Note: Technical data last updated: Sep 1, 2026.