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Niemann-Pick Disease, Type C1Phase 1/2NCT02912793

Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients

A Phase 1/2 study testing Hydroxypropyl-beta-cyclodextrin in people with Niemann-Pick Disease, Type C1, run by Cyclo Therapeutics, Inc. at 5 sites in 3 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

This research study is being conducted to find out whether Trappsol® Cyclo™, an experimental treatment for people with Niemann-Pick disease Type C1 (NPC-1) is safe at 3 different dose levels and what effects it has on people who have this condition. Read more about this study

Who is it for?
Ages 2 years and older
Conditions the study is for
Niemann-Pick Disease, Type C1
What is being tested?
Hydroxypropyl-beta-cyclodextrin
Type of treatment
Injection or infusion
Could I receive a placebo?
No, everyone receives an active treatment
How many people
12 participants
Where
5 sitesin 3 countries
Study dates
20 Mar 2017to 3 Mar 2021
Phase
Phase 1/2
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 2 years and older
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Who may be able to join

  • Confirmed diagnosis of NPC-1 defined as one of the following
  • Two NPC-1 mutations on genotyping
  • One NPC-1 mutation and positive filipin staining (current or prior)
  • Vertical supranuclear gaze palsy [VSNGP] plus either ≥ one NPC-1 mutation or positive filipin staining and no NPC-2 mutations
  • NIH NPC Severity Score <30 and with no more than 4 individual domains with a score ≥ 3.
  • Age range: 2 years upwards
Show all 10Show fewer
  • Inclusion of the first three paediatric patients will be restricted to individuals aged ≥ 5 years. Once the first three paediatric patients have safely completed stage 1, study entry will be open to all ages ≥2 years as per the protocol
  • Negative pregnancy test for females of child bearing potential
  • Written, informed consent
  • -

Who cannot join

  • The presence of NPC-2 mutations on genotyping
  • Previous receipt of cyclodextrin therapy
  • Lanksy score < 50 if aged ≤16 or Karnofsky score < 40 if aged > 16.
  • Inability to comply with the proposed protocol assessments
  • Concurrent treatment with any type of cholesterol lowering agents such as statins, fibrates, ezetimibe
  • Concurrent medical conditions representing a contraindication to any of the study medications
Show all 13Show fewer
  • Stage 3 renal impairment or worse as indicated by eGFR< 60mL/min using the MDRD equation
  • Clinical evidence of acute liver disease including symptoms of jaundice or right upper quadrant pain or INR >1. 8
  • Involvement in another interventional clinical trial within the previous 6 months
  • Weight >100 kg
  • 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 true abstinence) during the study and the follow-up period. True abstinence can only be in line with the preferred and usual lifestyle of the subject. Periodic abstinence (e.g., calendar, ovulation, symptothermal, post-ovulation methods), declaration of abstinence for the duration of a trial, and withdrawal are not acceptable methods of contraception.
  • Females who are breastfeeding
  • -

Trial locations and contacts

5 sites in 3 countries.

5 sites in 3 countries

Israel2 sites
  • HaeMek MC

    Afula, 1834111

  • Soroka Mc

    Beersheba, Rager Blvd, 85025

Other trials in Israel

United Kingdom2 sites
  • Leonard Wolfson Experimental Neurology Centre

    London, WC1N 3BG

  • Salford Royal Hospital

    Salford, Greater Manchester, M6 8HD

Other trials in United Kingdom

Sweden1 site
  • Karolinska Trial Alliance

    Solna, Huddinge, 141 76

Other trials in Sweden

About this study

Official title: A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes

This research study is being conducted to find out whether Trappsol® Cyclo™, an experimental treatment for people with Niemann-Pick disease Type C1 (NPC-1) is safe at 3 different dose levels and what effects it has on people who have this condition. NPC-1 is caused by a defect in a protein which is important for the transport of fatty substances like cholesterol out of cells. Without this protein, fats build up in the cells ultimately leading to organ damage. The way in which this experimental treatment works is not fully understood but laboratory experiments have shown that it can potentially remove cholesterol build up from the cells in people who have NPC-1. Approximately 12 patients will be asked to take part in this research study for up to 56 weeks in total. recruitment is expected to take 9 months.Patients who take part will receive treatment by an intravenous infusion every two weeks. The study will look at what the body does to the drug as well as what the drug does to the body by taking and examining blood and urine samples. Samples of Cerebrospinal fluid (CSF) are also taken by lumbar puncture during and following the first treatment dose. Patients will also have their hearing tested, be asked questions by their doctor as well completing questionnaires to help assess any changes in their condition during treatment. Optional assessments patients can choose to take part in include liver biopsies, additional lumbar punctures for CSF.examinations to see if the drug is affecting these. This study is being sponsored and funded by CTD holdings INC. It is planned to be run in the UK, Italy, and Sweden.

Read the detailed description

The planned study has been designed as a Phase I/II, double-blind, randomised, multi-centre, parallel group study based on information and data available from the administration of Trappsol Cyclo via compassionate/named patient use in patients with NPC-1, and data on other cyclodextrin products in the scientific literature.

The study is comprised of two stages. The primary objective of Stage 1 is to compare the plasma pharmacokinetics of three different doses of IV Trappsol Cyclo in the prevention /delay of NPC-1 progression.Secondary objectives include investigation of the Hydroxypropyl Beta Cyclodextrin (HP-β-CD) effect of three different doses of IV Trappsol Cyclo upon serum and lymphocytic markers of cholesterol metabolism (Stages 1 and 2) and evaluation of concentrations in the cerebrospinal fluid (CSF) following intravenous (IV) administration (Stage 1), evaluation of the impact of treatment upon measures of neurological function including ataxia, aphasia and saccadic eye movements, and the impact of treatment upon behavioural aspects of NPC-1 (Stage 2).

It is planned to recruit a total of 12 patients to the study. Patients will be randomised 1:1:1 to one of the three dose levels (1500 mg/kg, 2000 mg/kg or 2500 mg/kg; four patients per dose level). Treatment will be administered every two weeks by slow IV infusion at a concentration of 250 mg/mL over 8 hours. Patients completing Stage 1 of the study will continue into Stage 2 and receive treatment for 48 weeks. Patients who withdraw prior to completion of the initial pharmacokinetic (PK) and pharmacodynamics (PD) assessments will be replaced.

The design of the proposed study thus enables early assessment of biochemical markers of response but allows for a sufficient dosing duration to enable the effectiveness of Trappsol in NPC-1 to be assessed.

As miglustat is an approved treatment for NPC-1 in the EU, with an established efficacy and safety profile, it would be unethical to exclude patients receiving miglustat therapy from the study, given that the study itself will also be conducted at sites in Europe. However, it is planned to balance randomisation across the treatment groups for its use.

The maximum dose proposed for this study is below the maximum dose for which long term clinical data is available in 2 patients (2800 mg/kg weekly for 3-5 years). Although individual clinicians have not always utilised an escalating rate of infusion, the reports of infusion related reactions in three patients suggest that this is an appropriate clinical strategy to mitigate the risk of such events and is consistent with dosing administration for other therapeutic agents. In the proposed study, treatment will be administered less frequently than has been undertaken in compassionate use. This longer dosing interval is supported by nonclinical data comparing the metabolism of cholesterol in non-human species with that in man; although a once weekly dosing interval was initially studied in man based on data in the mouse, HP-β-CD cholesterol metabolism/turnover in the mouse is 13-fold higher than in man which, in NPC-1, likely translates into a 13-fold slower accumulation of cholesterol in human cells compared with those of the mouse.Therefore, it is theorised that, given the slower cholesterol metabolism in humans, the dosing interval could be much less frequent in man than in mouse; however, based on what is known about cholesterol metabolism in humans and the pharmacokinetic and pharmacodynamic effect of HP-β-CD in the mouse, a dosing interval of 2 weeks in man is likely to be well within the therapeutic dosing interval and also minimises the amount of infusions required to be administered.

Being tested
Hydroxypropyl-beta-cyclodextrin
Medical subject headings
Niemann-Pick Disease, Type C

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Hydroxypropyl-beta-cyclodextrinDrug

    Also called Trappsol Cyclo

    Used in the treatment of Niemann-Pick C1

Study groups in NCT02912793
Study groupRoleWhat they receive
Hydroxypropyl-beta-cyclodextrin IV 1500 mg/kgActive comparatorHydroxypropyl-beta-cyclodextrin administered by slow IV infusion for 8h every 2 weeks
Receives: Drug: Hydroxypropyl-beta-cyclodextrin
Hydroxy-propyl-beta-cyclodextrin IV 2000 mg/kgActive comparatorHydroxypropyl-beta-cyclodextrin administered by slow IV infusion for 8h every 2 weeks
Receives: Drug: Hydroxypropyl-beta-cyclodextrin
Hydroxypropyl-beta-cyclodextrin IV 2500 mg/kgActive comparatorHydroxypropyl-beta-cyclodextrin administered by slow IV infusion for 8h every 2 weeks
Receives: Drug: Hydroxypropyl-beta-cyclodextrin

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. To evaluate the plasma the Maximum Concentration (C max) of 3 doses of Trappsol by measurement of plasma levels

    To evaluate plasma PK of Trappsol by comparison of Maximum Concentration (Cmax ) of the three doses

    Measured: 0,2,4,6,& 8 hours (h) after the start of the IV infusion of Trappsol and 0.5,1,2,4,8 & 12 h after the end of the infusion

  2. To evaluate the Time to Maximum Concentration ( Tmax) of 3 doses of Trappsol by measurement of plasma levels

    To evaluate the plasma PK of Trappsol by comparison of the Tmax of three doses

    Measured: 0,2,4,6,& 8h after the start of IV infusion of Trappsol and 0.5,1,2,4,6 &12h after the end of infusion

  3. To evaluate the Volume of Distribution of Trappsol by measurement of plasma levels

    To evaluate the plasma PK of Trappsol by comparison of the Volume of Distribution of three doses

    Measured: ),2,4,6 & 8 h after the start of the IV infusion of Trappsol and 0.5,1,2,4,8,&12 h after the end of the infusion

  4. To evaluate the elimination half-life of Trappsol by measurement of plasma levels

    To evaluate the PK of Trappsol by comparison of the Elimination half-lives of three doses

    Measured: 0,2,3,6 & 8h after the start of IV infusion of Trappsol and 0.5,1,2,4,8 &12h after the end of infusion

Secondary outcomes (9)
  1. Markers of cholesterol metabolism

    To investigate the effect of 3 different doses of intravenous Trappsol in patients upon serum and lymphocytic markers of cholesterol metabolism in patients with NPC-1

    Measured: Screening,Days1,2,3,5,8,Weeks 2,4,8,10,12,14,16,18,20,24,28,32,36,40,44,48 and follow-up

  2. CSF levels of HP-β-CD

    To evaluate HP-β-CD concentrations in CSF following intravenous administration of Trappsol in patients with NPC-1 to determine if the drug crosses the blood brain barrier

    Measured: Pre then 4,8,and 12h after the start of the initial infusion

  3. Number of patients with treatment-related adverse events as assessed by CTCAE ( version 4.03)

    Events will be gathered by spontaneous reporting, clinical observation and laboratory tests including standard audiology tests and auditory evoked potential to assess hearing

    Measured: Screening,Days1,2,3,4,6,8,Week 2,4,6,8,10,12,14,16,18,20,22,24,26,28,30,32,34,36,38,40,42,44,46,48 and follow-up

  4. Abdominal ultrasound

    Change from baseline in hepatic and splenic morphology

    Measured: Baseline 12,24,36 and 48 weeks

  5. The proportion of patients with a reduction from baseline in the NIH NPC severity scale

    Reduction of one point in two or more domains

    Measured: Baseline and 48weeks

  6. Top evaluate the impact of treatment on ataxia

    Ataxia will be rated using the Scale for the assessment and rating of ataxia (SARA) in patients where age and cognitive function allow it.

    Measured: Screening, baseline and weeks 12,18,36 and 48

  7. To evaluate the effect of treatment on fine motor skills

    Motor skills will be assessed by the bead-threading test in patients where age and cognitive function allow it

    Measured: Screening, baseline and weeks 12,18,36 and 48

  8. To evaluate the effect of treatment on saccadic eye movements

    Changes in saccadic eye movements will be assessed by clinical observation.

    Measured: Screening, baseline and weeks 12,18,36 and 48

  9. To evaluate cognitive impairment

    Changes in cognitive impairment will be assessed using the Mini Mental Scale ( MMS) in patients where age and cognitive function allow it.

    Measured: Screening, baseline and weeks 12,18,36 and 48

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted23 Sep 2016 (estimated)
  2. Study start20 Mar 2017
  3. Primary completion3 Mar 2021
  4. Study completion3 Mar 2021

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase 1/2
Primary purpose
Treatment
Allocation
Randomised
Intervention model
Parallel groups
Masking
Quadruple blind
Who is masked
Participant, Care provider, Investigator, Outcomes assessor
Enrolment
12 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT02912793
Sponsor's protocol ID
CTD-TCNP-201
Status last verified
Aug 2021
First submitted
19 Aug 2016
Last updated
10 Aug 2021
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Battisti C, Tarugi P, Dotti MT, De Stefano N, Vattimo A, Chierichetti F, Calandra S, Federico A. Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study. Mov Disord. 2003 Nov;18(11):1405-9. doi: 10.1002/mds.10541.

    PubMed 14639697
  • Coussement W, Van Cauteren H, Vandenberghe J, et al. Toxicological profile of Hydroxypropyl-beta-cyclodextrin (HPBCD) in laboratory animals. In: Minutes of the Fifth International Symposium on cyclodextrins; 28-30 March 1990; Paris, France: Editions de Santé; 1990 p. 522-4.

  • Fischer D, Stewart AL, Bloch DA, Lorig K, Laurent D, Holman H. Capturing the patient's view of change as a clinical outcome measure. JAMA. 1999 Sep 22-29;282(12):1157-62. doi: 10.1001/jama.282.12.1157.

    PubMed 10501119
  • Folstein MF, Folstein SE, McHugh PR. "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975 Nov;12(3):189-98. doi: 10.1016/0022-3956(75)90026-6. No abstract available.

    PubMed 1202204
  • Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A. A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1.

    PubMed 26082315
  • Gould S, Scott RC. 2-Hydroxypropyl-beta-cyclodextrin (HP-beta-CD): a toxicology review. Food Chem Toxicol. 2005 Oct;43(10):1451-9. doi: 10.1016/j.fct.2005.03.007. Epub 2005 Apr 19.

    PubMed 16018907
  • Greer WL, Dobson MJ, Girouard GS, Byers DM, Riddell DC, Neumann PE. Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am J Hum Genet. 1999 Nov;65(5):1252-60. doi: 10.1086/302620.

    PubMed 10521290
  • Kamper SJ, Maher CG, Mackay G. Global rating of change scales: a review of strengths and weaknesses and considerations for design. J Man Manip Ther. 2009;17(3):163-70. doi: 10.1179/jmt.2009.17.3.163.

    PubMed 20046623
  • King KA, Gordon-Salant S, Yanjanin N, Zalewski C, Houser A, Porter FD, Brewer CC. Auditory phenotype of Niemann-Pick disease, type C1. Ear Hear. 2014 Jan-Feb;35(1):110-7. doi: 10.1097/AUD.0b013e3182a362b8.

    PubMed 24225652
  • Liu B, Li H, Repa JJ, Turley SD, Dietschy JM. Genetic variations and treatments that affect the lifespan of the NPC1 mouse. J Lipid Res. 2008 Mar;49(3):663-9. doi: 10.1194/jlr.M700525-JLR200. Epub 2007 Dec 12.

    PubMed 18077828
  • Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM. Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc Natl Acad Sci U S A. 2009 Feb 17;106(7):2377-82. doi: 10.1073/pnas.0810895106. Epub 2009 Jan 26.

    PubMed 19171898
  • Mattsson N, Zetterberg H, Bianconi S, Yanjanin NM, Fu R, Mansson JE, Porter FD, Blennow K. Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C. JIMD Rep. 2012;3:45-52. doi: 10.1007/8904_2011_47. Epub 2011 Sep 28.

    PubMed 23430872
  • Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Wattiaux R, Jadot M, Lobel P. Identification of HE1 as the second gene of Niemann-Pick C disease. Science. 2000 Dec 22;290(5500):2298-301. doi: 10.1126/science.290.5500.2298.

    PubMed 11125141
  • Neufeld EB, Cooney AM, Pitha J, Dawidowicz EA, Dwyer NK, Pentchev PG, Blanchette-Mackie EJ. Intracellular trafficking of cholesterol monitored with a cyclodextrin. J Biol Chem. 1996 Aug 30;271(35):21604-13. doi: 10.1074/jbc.271.35.21604.

    PubMed 8702948
  • Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat. 2003 Oct;22(4):313-25. doi: 10.1002/humu.10255.

    PubMed 12955717

Questions about this trial

What is this clinical trial studying?

A Phase 1/2 study testing Hydroxypropyl-beta-cyclodextrin in people with Niemann-Pick Disease, Type C1, run by Cyclo Therapeutics, Inc. at 5 sites in 3 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 10 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 10 Aug 2021. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 5 sites in Israel, United Kingdom, Sweden. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this combined phase mean?

Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

To evaluate the plasma the Maximum Concentration (C max) of 3 doses of Trappsol by measurement of plasma levels (time frame: 0,2,4,6,& 8 hours (h) after the start of the IV infusion of Trappsol and 0.5,1,2,4,8 & 12 h after the end of the infusion). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02912793, which also lists 31 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Aug 2021.

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