Safety and Efficacy of Miglustat in Chinese NPC Patients

NCT03910621 | Completed Phase 4

• 1 other identifier: AC-056C405
• Study Type: interventional
• Target: 17
• Locations: 1 country
• Sites: 2

Brief Summary

This is a prospective, multi-center, open-label, non-randomized, single-arm Phase IV confirmatory study. Approximately 19 subjects with Niemann Pick Type C disease (NPC) will be enrolled in this study. The study will be conducted at 2 sites in China.

Conditions

Niemann-Pick Disease, Type C

Outcome Measures

Primary Outcomes (1)

• Observed change in HSEM (ms/deg)

  Change in HSEM from baseline to week 52

  baseline to week 52

Secondary Outcomes (2)

• Change in Pineda disability scale score

  baseline to week 52

• Incidence of treatment-emergent AEs and SAEs

  Baseline to 30 days after End of Treatment (Week 52)

Study Arms (1)

Miglustat

EXPERIMENTAL

Miglustat is administered three times a day as an oral capsule

Drug: Miglustat

Interventions

Miglustat DRUG

capsule, oral use

Miglustat

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients with confirmed 2 pathogenic mutations in either Niemann Pick Type C Gene 1 or 2 (NPC 1 or NPC 2) or 1 pathogenic mutation in either NPC1 or NPC2 plus a positive biomarker (oxysterol or lysosphingolipids or bile acids) plus high clinical suspicion
• Signed informed consent prior to any study-mandated procedure.
• For subjects who are younger than 18 years consent must be sought of at least one legal guardian who shall sign the informed consent form and indicate the relationship between him/her and the subject.
• Subjects who are 18 years or older must sign the consent. If the subject cannot make an independent decision to participate in the study, consent must be sought of the legal agents who shall sign the informed consent form and indicate the relationship between him/her and the subject.
• Male and female subjects aged 4 years and older.
• Subjects who can performed the tests for the horizontal and vertical saccadic eye movements;
• Subjects who are able to swallow the study drug;
• Women of childbearing potential are only eligible if the following applies:
• Negative urine pregnancy test at screening.
• Agreement to undertake monthly urine pregnancy tests during the study and up to at least 30 days after study treatment discontinuation.
• Agreement to use one of the methods of birth control / follow the contraception scheme from screening up to at least 30 days after study treatment discontinuation.
• A fertile male (physiologically capable of fathering a child according to investigator's judgment) is eligible only if he agrees to use a condom during the treatment period and for an additional 12 weeks after treatment discontinuation.

You may not qualify if:

• Subjects suffering from clinically significant diarrhea (\>3 liquid stools per day for \>7 days) without definable cause within 3 months before enrollment.
• Known hypersensitivity to the investigational treatment or drugs of the same class, or any of their excipients.
• Subjects who suffer from renal insufficiency with a creatinine clearance rate (CCR) of \< 30ml/min per 1.73m2.
• Pregnant, planning to be become pregnant or lactating females, not using reliable birth control male adult subjects.
• Previous exposure to investigational treatment for more than 12 months before study start.
• Planned or current treatment with another investigational treatment up to 3 months prior to randomization. Symptomatic therapies are allowed (such as curcumin).
• Any known factor or disease that might interfere with treatment compliance, study conduct, or interpretation of the results, such as drug or alcohol dependence or psychiatric disease, end stage disease including wheelchair bound patients, bedridden patients etc.
• Subjects who are judged unqualified for the clinical trial by the investigator.
• Subjects who suffer lysosomal storage diseases, enzyme deficiency or neurological diseases other than NPC.
• Subjects who suffer variant filipin staining without confirmatory genetic diagnosis of NPC.
• Subjects with uncontrolled epilepsy.
• Subjects with complete ophthalmoplegia.
• Known concomitant life-threatening disease with a life expectancy \< 12 months.

Sponsors & Collaborators

• Actelion: lead

Study Sites (2)

Peking University first Hospital

Beijing, 100034, China

Location

Xin Hua Hospital, Shanghai Jiao Tong University

Shanghai, 200092, China

Location

Related Publications (1)

• Zhang H, Xiong H, Wei C, Yi M, Che Y, Zhuo J, Li X. Evaluation of the safety and efficacy of miglustat for the treatment of Chinese patients with Niemann-Pick disease type C: A prospective, open-label, single-arm, phase IV trial. Intractable Rare Dis Res. 2024 Nov 30;13(4):227-235. doi: 10.5582/irdr.2024.01056.

  PMID: 39628618 DERIVED

MeSH Terms

Conditions

Niemann-Pick Disease, Type C

Interventions

miglustat

Condition Hierarchy (Ancestors)

Niemann-Pick Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Yue Wu

  Janssen China R&D

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 8, 2019
• First Posted: April 10, 2019
• Study Start: April 2, 2020
• Primary Completion: March 25, 2022
• Study Completion: March 25, 2022
• Last Updated: March 30, 2025

Record last verified: 2025-03

Locations

CN (2)