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Trial of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Subjects with Niemann-Pick Type C1 Disease

Phase 1
Conditions
eurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease
Therapeutic area: Diseases [C] - Nervous System Diseases [C10]
Registration Number
EUCTR2015-002548-15-GB
Lead Sponsor
Vtesse, Inc. a Mallinckrodt Pharmaceutical Company
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Authorised-recruitment may be ongoing or finished
Sex
Not specified
Target Recruitment
51
Inclusion Criteria

1. Male or female subjects, 4 to 21 years of age at time of screening with onset of neurological symptoms prior to 15 years of age.
2. Diagnosis of NPC1 determined by one of the following:
a. Two NPC1 mutations;
b. Positive filipin staining or oxysterol testing and at least one NPC1 mutation;
c. Vertical supranuclear gaze palsy (VSNGP) in combination with either:
i. One NPC1 mutation, or
ii. Positive filipin staining or oxysterol levels consistent with NPC1 disease and no NPC2 mutations.
3. Subject or parent/guardian must provide written informed consent to participate in the study. In addition to parental consent, assent to participate must also be sought from minor children.
4. Ability to undergo a LP and IT drug administration under monitored anesthesia care (conscious sedation) or if medically necessary, general anesthesia.
5. An NPC SS score of 0 through 4, inclusive, on the cognition component, and 1 through 4 in two or more of the following components: ambulation, fine motor skills, or swallowing.
6. Total NPC SS score of 10 or greater.
7. Subjects with adequately controlled seizures may qualify for enrollment. Subjects with a history of seizures should have a stable
pattern of seizure activity and be on a stable dose and regimen of antiepileptic medication during the 3 months prior to screening without
change in dose or regimen up to and including Study Day 0.
8. If taking miglustat, must have been on a stable dose for the past 6 to 8 weeks and be willing to remain on a stable dose for the duration of participation in Parts A and B of the study. Alternatively, subjects may elect to discontinue miglustat use and be eligible for trial entry after
undergoing a minimum 6 week washout period prior to Study Day 0.
9. Agree to discontinue all nonprescription supplements such as coenzyme Q10, curcumin, cinnamon, fish oil supplements, high dose vitamin D (>500 mIU/day), N-acetylcystine, acetylleucine, or gingko biloba at least 1 month prior to first dose (Study Day 0). Note: Daily administration of an age-appropriate multivitamin is allowed.
10. Agree to discontinue any other investigational treatments for NPC including, for example, vorinostat or arimoclomol, acetylleucine, or
curcumin at least 3 months prior to first dose (Study Day 0).
11. Females of childbearing potential (not surgically sterile) must use a medically acceptable method of contraception and must agree to continue use of this method for the duration of the study and for 30 days after participation in the study. Acceptable methods of contraception include barrier method with spermicide, intrauterine device, steroidal contraceptive in conjunction with a barrier method, or abstinence.
12. Subject or caregiver must possess the ability, per the Investigator, to understand and comply with protocol requirements including clinical outcome measurements and instructions for the entire duration of the study.
13. Caregiver, parent, guardian or responsible adult must be able and willing to accompany the subject to study visits.

Part C
1. Subject has completed Part B, meets the criteria for dose reductio

Exclusion Criteria

1. Exclusion criteria as assessed by NPC SS:
a. Unable to walk, wheelchair dependent (ambulation score=5)
b. Needs a nasogastric tube or gastric tube for all feedings (swallowing=5). Note: Nasogastric or gastric tube use
for supplemental feeding or medication administration is permitted and will not exclude a subject from this trial.
c. Severe dysmetria (fine motor score=5)
d. Minimal cognitive function (cognition score=5)
2. Body weight < 15 kg.
3. Prior treatment with IV HP-ß-CD for NPC1 disease, unless the subject has undergone a minimum 3-month washout period prior to Study Day 0. Note: Any prior IT administration of HP-ß-CD for the treatment of NPC1 disease will exclude a subject from enrollment.
Treatment of other medical conditions with drug preparations containing HP-ß-CD as an excipient (inactive ingredient) is acceptable and will not exclude a subject from immediate entry into this trial (no washout period required).
4. Status epilepticus occurring within 3 months of screening and/or seizure frequency that cannot be quantified.
5. Subjects on typical or atypical antipsychotics for treatment of psychosis. Note: Use of antipsychotic medication for treatment of other
disorders (e.g., attention deficit hyperactivity disorder) will not exclude a subject from this trial.
6. History of hypersensitivity reactions to any product containing HP-ß-CD.
7. Prior treatment with any other investigational product within 3 months prior to first dose (Study Day 0).
8. Female subjects who are pregnant or nursing.
9. Subjects with suspected infection of the central nervous system (CNS) or any systemic infection.
10. Spinal deformity that could impact the ability to perform a LP.
11. Skin infection in the lumbar region within 2 months of study entry.
12. Neutropenia, defined as an absolute neutrophil count (ANC) of less than 1.5 x 109/L.
13. Thrombocytopenia (platelet count less than 75 x 109/L).
14. Activated partial thromboplastin time (aPTT) or prothrombin time (PT) prolonged by greater than 1.5 times the upper limit of normal (ULN) or known history of a bleeding disorder.
15. Evidence of obstructive hydrocephalus or normal pressure hydrocephalus.
16. Recent use of anticoagulants (in past 2 weeks prior to first dose [Study Day 0].
17. Aspartate aminotransferase (AST) or alanine aminotransferase (ALT) greater than 4 times the ULN.
18. Anemia: Hemoglobin more than 2 standard deviations below normal for age and gender.
19. Estimated glomerular filtration rate (eGFR) < 60 mL/minute/1.73m2 calculated using the modified Schwartz formula (2009) for subjects aged 4 through 17 years old or using the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) formula for subjects aged 18 years or older.
20. Active pulmonary disease, oxygen requirement, or clinically significant history of decreased blood oxygen saturation, pulmonary therapy, or requiring active suction.
21. Subjects who, in the opinion of the investigator, are unable to comply with the protocol or have medical conditions that would potentially incr

Study & Design

Study Type
Interventional clinical trial of medicinal product
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod
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