A Clinical Study to evaluate the Safety and Efficacy of miglustat (Zavesca®) for the treatment of Niemann-Pick Disease Type C (NPC) in Chinese subjects

Phase 1

• Conditions: iemann-Pick Disease Type C (NPC); MedDRA version: 20.0Level: PTClassification code 10029403Term: Niemann-Pick diseaseSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

• Registration Number: EUCTR2022-002514-16-Outside-EU/EEA
• Lead Sponsor: Actelion Pharmaceuticals Trading (Shanghai) Co., Ltd

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2022-07-29
• Last Update Posted: 8 August 2022

Recruitment & Eligibility

• Status: A
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

For inclusion in the study, all of the following inclusion criteria must be fulfilled. It is not permitted to waive any of these criteria for any subject:

1. Signed and dated ICF for adult subjects and signed and dated ICF by the parent(s) or legally designated representative AND assent from developmentally capable children.
2. Subjects with confirmed two pathogenic mutations in either NPC1 or NPC2 or one pathogenic mutation in either NPC1 or NPC2 plus a positive biomarker (oxysterol or lysosphingolipids or bile acids) plus high clinical suspicion of disease.
3. Male and female subjects aged 4 years and older.
4. Subjects who can perform the tests for the horizontal and vertical saccadic eye movements;
5. Subjects who are able to swallow the study drug;
6. 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.
7. 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 intercourse for the treatment period and for an additional 12 weeks after treatment discontinuation.

Are the trial subjects under 18? yes
Number of subjects for this age range: 19
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 5
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range 0

Exclusion Criteria

Subjects must not fulfill any of the following exclusion criteria. It is not permitted to waive any of these criteria for any subject:

1. Subjects suffering from clinically significant diarrhea (> 3 liquid stools per day for > 7 days) without definable cause within 3 months before enrollment.
2. Known hypersensitivity to the investigational treatment or drugs of the same class, or any of their excipients.
3. Subjects who suffer from renal insufficiency with a creatinine clearance rate of < 30 ml/min per 1.73 m^2.
4. Pregnant, planning to be become pregnant, or lactating females, not using reliable birth control male adult subjects.
5. Previous exposure to investigational treatment for more than 12 months before study start.
6. Treatment with eliglustat, benzodiazepine and any other drug potentially influencing eye movements and the outcomes of the Pineda score
7. Planned or current treatment with another investigational treatment up to 3 months prior to randomization. Symptomatic therapies are allowed (such as curcumin).
8. 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 subjects, bedridden subjects etc.
9. Subjects who are judged unqualified for the clinical trial by the investigator.
10. Subjects who suffer lysosomal storage diseases, enzyme deficiency or neurological diseases other than NPC.
11. Subjects who suffer from variant filipin staining without confirmatory genetic diagnosis of NPC.
12. Subjects with uncontrolled epilepsy.
13. Subjects with complete ophthalmoplegia.
14. Known concomitant life-threatening disease with a life expectancy of < 12 months.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified