A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patients

Recruitment & Eligibility

Status: A

Sex: All

Target Recruitment: 12

Inclusion Criteria

1. Confirmed diagnosis of NPC-1 defined as one of the following:
a) Two NPC-1 mutations on genotyping
b) One NPC-1 mutation and positive filipin staining (current or prior)
c) Vertical supranuclear gaze palsy [VSNGP] plus either = one NPC-1 mutation or positive filipin staining and no NPC-2 mutations
2. NIH NPC Severity Score <30 and with no more than 4 individual domains with a score = 3.
3. Age range: 2 years upwards
a) Inclusion of the first six patients will be restricted to individuals aged = 5 years. In the event that three patients aged >18 (i.e. adults) are recruited before the total recruitment has reached n=6, no more adults will be randomised to treatment until the first cohort of 6 patients is complete. Once the first six are recruited and randomised, study entry will be open to all ages =2 years as per the protocol.
4. Negative pregnancy test for females of child bearing potential
5. Written, informed consent
Are the trial subjects under 18? yes
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 6
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

1. The presence of NPC-2 mutations on genotyping
2. Previous receipt of cyclodextrin therapy
3. Lanksy score < 50 if aged =16 or Karnofsky score < 40 if aged > 16.
4. Inability to comply with the proposed protocol assessments
5. Concurrent treatment with any type of cholesterol lowering agents such as statins, fibrates, ezetimibe
6. Concurrent medical conditions representing a contraindication to any of the study medications
7. Stage 3 chronic kidney disease (CKD) or worse as indicated by an eGFR < 60 mL/min/1.73 m2. In patients aged = 18 years, eGFR is calculated according to the Schwartz equation (ref: Schwartz GJ & Work DF) and in patients aged > 18 years eGFR is calculated using the MDRD equation
8. Clinical evidence of acute liver disease including symptoms of jaundice or right upper quadrant pain or international normalised ratio (INR) >1. 8
9. Involvement in another interventional clinical trial within the previous 6 months from screening
10. Weight >100 kg
11. Females of childbearing potential who are not willing to use a method of highly effective contraception (hormonal contraception, intrauterine device, intrauterine hormone-releasing system, bilateral tubal occlusion, vasectomised partner, or sexual abstinence) during the study

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method

Secondary Outcome Measures

Name	Time	Method

Related Trials