Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients
NCT ID: NCT02912793
Last Updated: 2021-08-10
Study Results
Results pending
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
Recruitment Status
COMPLETED
Clinical Phase
PHASE1/PHASE2
Total Enrollment
12 participants
Study Classification
INTERVENTIONAL
Study Start Date
2017-03-20
Study Completion Date
2021-03-03
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease
NCT01747135
Niemann-Pick Disease, Type C1
COMPLETED
PHASE1
Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1
NCT03887533
Niemann-Pick Disease, Type C1
TERMINATED
PHASE1/PHASE2
Treatment Development of Triheptanoin (G1D)
NCT03041363
Epilepsy
GLUT1DS1
Glut1 Deficiency Syndrome 1, Autosomal Recessive
+4 more
COMPLETED
PHASE1
Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis
NCT00028262
Infantile Neronal Ceroid Lipofuscinosis
COMPLETED
PHASE4
Phase 1b Study of Tizanidine in Pediatric Patients With Cerebral Palsy
NCT01405950
Spasticity Due to Cerebral Palsy
TERMINATED
PHASE1
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
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.
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.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Niemann-Pick Disease, Type C1
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
Allocation Method
RANDOMIZED
Intervention Model
PARALLEL
Primary Study Purpose
TREATMENT
Blinding Strategy
QUADRUPLE
Participants
Caregivers
Investigators
Outcome Assessors
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Hydroxypropyl-beta-cyclodextrin IV 1500 mg/kg
Hydroxypropyl-beta-cyclodextrin administered by slow IV infusion for 8h every 2 weeks
Group Type
ACTIVE_COMPARATOR
Hydroxypropyl-beta-cyclodextrin
Intervention Type
DRUG
Used in the treatment of Niemann-Pick C1
Hydroxy-propyl-beta-cyclodextrin IV 2000 mg/kg
Hydroxypropyl-beta-cyclodextrin administered by slow IV infusion for 8h every 2 weeks
Group Type
ACTIVE_COMPARATOR
Hydroxypropyl-beta-cyclodextrin
Intervention Type
DRUG
Used in the treatment of Niemann-Pick C1
Hydroxypropyl-beta-cyclodextrin IV 2500 mg/kg
Hydroxypropyl-beta-cyclodextrin administered by slow IV infusion for 8h every 2 weeks
Group Type
ACTIVE_COMPARATOR
Hydroxypropyl-beta-cyclodextrin
Intervention Type
DRUG
Used in the treatment of Niemann-Pick C1
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
Hydroxypropyl-beta-cyclodextrin
Used in the treatment of Niemann-Pick C1
Intervention Type
DRUG
Other Intervention Names
Discover alternative or legacy names that may be used to describe the listed interventions across different sources.
Trappsol Cyclo
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
1. 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
2. NIH NPC Severity Score \<30 and with no more than 4 individual domains with a score ≥ 3.
3. Age range: 2 years upwards
* 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
4. Negative pregnancy test for females of child bearing potential
5. Written, informed consent
\-
* 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
2. NIH NPC Severity Score \<30 and with no more than 4 individual domains with a score ≥ 3.
3. Age range: 2 years upwards
* 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
4. Negative pregnancy test for females of child bearing potential
5. Written, informed consent
\-
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 renal impairment or worse as indicated by eGFR\< 60mL/min using the MDRD equation
8. Clinical evidence of acute liver disease including symptoms of jaundice or right upper quadrant pain or INR \>1. 8
9. Involvement in another interventional clinical trial within the previous 6 months
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 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.
12. Females who are breastfeeding
\-
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 renal impairment or worse as indicated by eGFR\< 60mL/min using the MDRD equation
8. Clinical evidence of acute liver disease including symptoms of jaundice or right upper quadrant pain or INR \>1. 8
9. Involvement in another interventional clinical trial within the previous 6 months
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 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.
12. Females who are breastfeeding
\-
Minimum Eligible Age
2 Years
Eligible Sex
ALL
Accepts Healthy Volunteers
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Cyclo Therapeutics, Inc.
INDUSTRY
Sponsor Role
lead
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Responsibility Role
SPONSOR
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Reena Sharma, MB BS
Role: PRINCIPAL_INVESTIGATOR
Salford Royal Foundation NHS Trust,
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Soroka Mc
Beersheba, Rager Blvd, Israel
Site Status
HaeMek MC
Afula, , Israel
Site Status
Karolinska Trial Alliance
Solna, Huddinge, Sweden
Site Status
Salford Royal Hospital
Salford, Greater Manchester, United Kingdom
Site Status
Leonard Wolfson Experimental Neurology Centre
London, , United Kingdom
Site Status
Countries
Review the countries where the study has at least one active or historical site.
Israel
Sweden
United Kingdom
References
Explore related publications, articles, or registry entries linked to this study.
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
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.
Reference Type
BACKGROUND
Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007 Sep;6(9):765-72. doi: 10.1016/S1474-4422(07)70194-1.
Reference Type
BACKGROUND
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8.
Reference Type
BACKGROUND
Ramirez CM, Liu B, Aqul A, Taylor AM, Repa JJ, Turley SD, Dietschy JM. Quantitative role of LAL, NPC2, and NPC1 in lysosomal cholesterol processing defined by genetic and pharmacological manipulations. J Lipid Res. 2011 Apr;52(4):688-98. doi: 10.1194/jlr.M013789. Epub 2011 Feb 2.
Reference Type
BACKGROUND
Schicks J, Muller Vom Hagen J, Bauer P, Beck-Wodl S, Biskup S, Krageloh-Mann I, Schols L, Synofzik M. Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy. Neurology. 2013 Mar 19;80(12):1169-70. doi: 10.1212/WNL.0b013e31828869f9. Epub 2013 Feb 20. No abstract available.
Reference Type
BACKGROUND
Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schols L, Szymanski S, van de Warrenburg BP, Durr A, Klockgether T, Fancellu R. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006 Jun 13;66(11):1717-20. doi: 10.1212/01.wnl.0000219042.60538.92.
Reference Type
BACKGROUND
Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F. The adult form of Niemann-Pick disease type C. Brain. 2007 Jan;130(Pt 1):120-33. doi: 10.1093/brain/awl260. Epub 2006 Sep 26.
Reference Type
BACKGROUND
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM. Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. J Clin Invest. 2014 Mar;124(3):1320-8. doi: 10.1172/JCI72835.
Reference Type
BACKGROUND
Trendelenburg G, Vanier MT, Maza S, Millat G, Bohner G, Munz DL, Zschenderlein R. Niemann-Pick type C disease in a 68-year-old patient. J Neurol Neurosurg Psychiatry. 2006 Aug;77(8):997-8. doi: 10.1136/jnnp.2005.086785. No abstract available.
Reference Type
BACKGROUND
Vance JE. Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases. Dis Model Mech. 2012 Nov;5(6):746-55. doi: 10.1242/dmm.010124. Epub 2012 Oct 12.
Reference Type
BACKGROUND
Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16.
Reference Type
BACKGROUND
Vite CH, Bagel JH, Swain GP, Prociuk M, Sikora TU, Stein VM, O'Donnell P, Ruane T, Ward S, Crooks A, Li S, Mauldin E, Stellar S, De Meulder M, Kao ML, Ory DS, Davidson C, Vanier MT, Walkley SU. Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease. Sci Transl Med. 2015 Feb 25;7(276):276ra26. doi: 10.1126/scitranslmed.3010101.
Reference Type
BACKGROUND
Welford RW, Garzotti M, Marques Lourenco C, Mengel E, Marquardt T, Reunert J, Amraoui Y, Kolb SA, Morand O, Groenen P. Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study. PLoS One. 2014 Dec 5;9(12):e114669. doi: 10.1371/journal.pone.0114669. eCollection 2014.
Reference Type
BACKGROUND
Weyer A, Abele M, Schmitz-Hubsch T, Schoch B, Frings M, Timmann D, Klockgether T. Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients. Mov Disord. 2007 Aug 15;22(11):1633-7. doi: 10.1002/mds.21544.
Reference Type
BACKGROUND
Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K. NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet. 1999 Jul-Aug;105(1-2):10-6. doi: 10.1007/s004399900059.
Reference Type
BACKGROUND
Yanjanin NM, Velez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):132-40. doi: 10.1002/ajmg.b.30969.
Reference Type
BACKGROUND
Sharma R, Hastings C, Staretz-Chacham O, Raiman J, Paucar M, Spiegel R, Murray B, Hurst B, Liu B, Kjems L, Hrynkow S. Long-term administration of intravenous Trappsol(R) Cyclo (HP-beta-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial. Mol Genet Metab Rep. 2023 Jun 29;36:100988. doi: 10.1016/j.ymgmr.2023.100988. eCollection 2023 Sep.
Reference Type
DERIVED
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
CTD-TCNP-201
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.
Cannabidiol Oral Solution for the Treatment of Patients With Prader-Willi Syndrome
NCT02844933
TERMINATED
PHASE2
Glycerol-Phenylbutyrate Treatment in Children With MCT Mutation (Allan-Herndon- Dudley Syndrome)
NCT05019417
UNKNOWN
PHASE2/PHASE3
Pharmacogenomic Contributions to Trihexyphenidyl Biotransformation and Response in Children With Dystonic Cerebral Palsy
NCT06554288
RECRUITING
PHASE1
Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
NCT02018315
COMPLETED
PHASE1
Recurrent Crying Spells in Cerebral Palsy
NCT01955655
COMPLETED
PHASE4
NB-001 in Children and Adolescents With 22q11 Deletion Syndrome
NCT05290493
COMPLETED
PHASE2
Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome
NCT02318563
WITHDRAWN
PHASE3
Triheptanoin (C7 Oil), a Food Supplement, for Glucose Transporter Type I Deficiency (G1D)
NCT02021526
WITHDRAWN
PHASE1/PHASE2
Oral Baclofen Pharmacokinetics and Pharmacodynamics in Children With Spasticity
NCT00607542
COMPLETED
PHASE1/PHASE2
Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions
NCT00491894
COMPLETED
PHASE3
Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis
NCT01399047
COMPLETED
PHASE2
Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) in Children With Tuberous Sclerosis Complex (TSC), Dravet Syndrome (DS), or Lennox-Gastaut Syndrome (LGS) Who Experience Inadequately-controlled Seizures
NCT04485104
TERMINATED
PHASE3
Side Effects of Bone Marrow Derived CD133 Transplantation in Cerebral Palsy
NCT01404663
COMPLETED
PHASE1
Cannabidiol Oral Solution for Treatment of Refractory Infantile Spasms
NCT02551731
TERMINATED
PHASE2
Intrathecal Baclofen and Pediatric Dystonia
NCT06606574
RECRUITING
NA
Study to Evaluate the Use of Triheptanoin in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
NCT07097311
RECRUITING
PHASE2
Intravenous Immunoglobulins as Effective Treatment in Sydenham's Chorea
NCT00615797
COMPLETED
NA
Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome
NCT02000960
UNKNOWN
PHASE2
Online Treatment Recovery Assistance for Concussion in Kids
NCT05065099
UNKNOWN
NA
Topiramate in Neonates Receiving Whole Body Cooling for Hypoxic Ischemic Encephalopathy
NCT01765218
TERMINATED
PHASE1/PHASE2
Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy
NCT01386255
WITHDRAWN
PHASE4
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
NCT06792500
RECRUITING
PHASE1/PHASE2
Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses
NCT04808297
COMPLETED
Post Approval Study of Liposorber LA-15 System for the Treatment of Focal Segmental Glomerulosclerosis in Children
NCT02235857
RECRUITING
NA
Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy
NCT00004450
COMPLETED
NA