[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"niemann-pick-disease-type-c\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:niemann-pick-disease-type-c":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,45,70,96],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":26,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":4,"leadSponsor":41,"locationsCount":44},"100083492","evaluation-of-biochemical-markers-and-clinical-investigation-of-niemann-pick-disease-type-c-100083492",false,"NCT00344331","Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C","* INCLUSION CRITERIA:\n\nAffected Subjects\n\nThe following individuals may be enrolled as in this study:\n\n* All patients with a diagnosis of NPC, based on clinical presentation, biochemical, or molecular.\n* Both NPC1 and NPC2 patients.\n* Patients of any age\n* Males or females\n* Any ethnic background\n\nEXCLUSION CRITERIA:\n\nIndividuals will not be enrolled in this study if:\n\n* They cannot travel to the NIH because of their medical condition or are too ill to be cared for at home.\n* They have rapidly progressive neonatal cholestasis.\n* They are pregnant (a negative urine pregnancy test will be required for any menstruating female before participation in this study and at each NIH Clinical Center admission).\n\nUnaffected Subjects\n\nIndividuals may be enrolled for data and biospecimen collection if:\n\n* They are a known NPC1 or NPC2 heterozygote and consent to specimen collection (as specified in the protocol) from the carrier population.\n* There is no diagnosis or suspicion of NPC disease, and consent is provided to be included in the control or caregiver population.\n\nIndividuals will not be enrolled for biospecimen collection if:\n\n* Consent is not provided\n* They have a contraindication to the method of specimen collection\n\n  * Patients will be excluded from the MRI section of the study if they have a contraindication to MRI or if they do not meet the safety criteria established by the NIH Clinical Center radiology department for MRI scanning.",true,"ALL","1 Day","120 Years",{"count":20,"type":21},900,"ESTIMATED","OBSERVATIONAL","This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial.\n\nPatients of any age with NPC may be eligible for this study. Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center.\n\n* Medical evaluation, including medical history, physical exam, neurological exam, neuropsychometric evaluation, and blood and urine tests.\n* Lumbar puncture (spinal tap): A sample of cerebrospinal fluid (CSF), the fluid that bathes the brain and spinal cord, is obtained for study. After administration of a local anesthetic, a small needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord. A small amount of fluid is collected through the needle.\n* Eye exam and eye movement study: The pupils of the eye are dilated to examine the structures of the eyes. For the eye movement study a special contact lens is placed on the eye and the patient looks at a series of target light spots moving on a screen.\n* Hearing tests.\n* Electroretinography (in patients who can cooperate with the test) to measure the function of the retina. Before the test, the patient's pupils are dilated and an electrode (small silver disk) is taped to the forehead. The patient sits in a dark room for 30 minutes and then a special contact lens is placed on one eye after it has been numbed with drops. The contact lens senses small electrical signals generated by the retina when lights flash. During the ERG recording, the eye is stimulated with flashes of light projected inside a hollow sphere. After the test, a full eye exam is done and photographs of the retina are taken.\n* Magnetic resonance imaging (MRI): This test uses a magnetic field and radio waves to produce images of the brain and obtain information about brain chemicals. The patient lies on a table that can slide in and out of the scanner (a narrow cylinder), wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. Patients who cannot remain still in the scanner may be sedated for the test.\n* Psychometric testing: Patients complete questionnaires.\n* Photographs of the patient may be taken for use in teaching sessions or scientific presentations or publications, with the patient's consent. Patients may be recognizable, but are not identified by name.\n* Pregnancy test in all female patients over 10 years of age at the beginning of each admission to the Clinical Center.",[25],"Niemann-Pick Disease, Type C",[27,28,29,30,31,32,33],"Lysosomal Storage","Biomarkers","Longitudinal","Natural History","Niemann Pick Type C","NPC","Lysosomal Storage Disorder","RECRUITING","2026-06-27",{"date":37,"type":38},"2026-06-30","ACTUAL",{"date":40,"type":38},"2006-08-14",{"name":42,"class":43},"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","NIH",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":16,"minAge":51,"maxAge":4,"enrollmentInfo":52,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":54,"conditions":55,"keywords":56,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":65,"completionDateStruct":67,"leadSponsor":69,"locationsCount":44},"100484447","establishment-of-genomic-and-phenotypic-database-for-niemann-pick-disease-type-c-100484447","NCT05588167","Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C","* INCLUSION CRITERIA;\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Provision of signed and dated informed consent form\n2. Stated willingness to comply with all study procedures and availability for the duration of the study\n3. Male or female, any age, demographic or ethnic background will be eligible for this study\n4. Diagnosis of NPC will be based on clinical, biochemical or molecular testing.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Unwilling to provide consent\n2. Unable to provide biospecimen to obtain DNA\n3. Unable to provide medical records or clinical data","3 Months",{"count":53,"type":21},100,"Background:\n\nNiemann-Pick type C (NPC) disease is a rare, progressive neurodegenerative disease that affects mainly the brain, liver, and spleen but also other parts of the body. There is no cure for NPC, and symptoms only get worse over time. Symptoms can include seizures, difficulty moving or talking, or dementia. But symptoms can vary among different people with the disease. Some may have seizures, while others do not, for example. Some people begin showing symptoms in childhood; in others, symptoms may not appear until they are adults. Researchers want to learn more about why NPC affects people differently. This natural history study will gather data from people with NPC in order to understand more about the disease and how it affects the body.\n\nObjective:\n\nThis study will create the first and largest database about NPC.\n\nEligibility:\n\nPeople of any age who have NPC.\n\nDesign:\n\nParticipants will have blood drawn from a vein. This will happen only once. The blood will be used to analyze the participants DNA.\n\nThe participants medical records will be reviewed. The study team will collect data on participants NPC diagnosis and symptoms; they will record how long participants have had each symptom. The study team will also collect data on each participants age, sex, race, height, weight, medications, and other test results.\n\nThe study team will communicate with participants. They will discuss the study and answer any questions.\n\nParticipants will receive up to $190.",[25],[57,58,59,60,61,30],"Genetic","Clinical","DNA","Medical","History","2026-06-17",{"date":64,"type":38},"2026-06-18",{"date":66,"type":38},"2022-11-28",{"date":68,"type":21},"2026-09-30",{"name":42,"class":43},{"id":71,"slug":72,"hasResults":11,"nctId":73,"briefTitle":74,"officialTitle":75,"acronym":4,"eligibilityCriteria":76,"healthyVolunteers":11,"sex":16,"minAge":77,"maxAge":4,"enrollmentInfo":78,"targetDuration":4,"studyType":80,"phases":81,"briefSummary":83,"conditions":84,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":85,"lastUpdatePostDateStruct":86,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":95},"100451806","phase-3-a-pivotal-study-of-n-acetyl-l-leucine-on-niemann-pick-disease-type-c-100451806","NCT05163288","A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C","Effects of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C (NPC): A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study","Inclusion Criteria:\n\n1. Written informed consent signed by the patient and\u002For their legal representative\u002F parent\u002F impartial witness\n2. Male or female aged ≥4 years with a confirmed genetic diagnosis of NPC at the time of signing informed consent.\n3. Females of childbearing potential, defined as a premenopausal female capable of becoming pregnant, will be included if they are either sexually inactive (sexually abstinent for 14 days prior to the first dose and confirm to continue through 28 days after the last dose) or using one of the following highly effective contraceptives (i.e. results in \\\u003C1% failure rate when used consistently and correctly) 14 days prior to the first dose continuing through 28 days after the last dose:\n\n   1. intrauterine device (IUD);\n   2. surgical sterilization of the partner (vasectomy for 6 months minimum);\n   3. combined (estrogen or progestogen containing) hormonal contraception associated with the inhibition of ovulation (either oral, intravaginal, or transdermal);\n   4. progestogen only hormonal contraception associated with the inhibition of ovulation (either oral, injectable, or implantable);\n   5. intrauterine hormone releasing system (IUS);\n   6. bilateral tubal occlusion.\n4. Females of non-childbearing potential who have undergone one of the following sterilization procedures at least 6 months prior to the first dose:\n\n   1. hysteroscopic sterilization;\n   2. bilateral tubal ligation or bilateral salpingectomy;\n   3. hysterectomy;\n   4. bilateral oophorectomy; OR be postmenopausal with amenorrhea for at least 1 year prior to the first dose and follicle stimulating hormone (FSH) serum levels consistent with postmenopausal status. FSH analysis for postmenopausal women will be done at screening. FSH levels should be in the postmenopausal range as determined by the central laboratory.\n5. Non-vasectomized male patient agrees to use a condom with spermicide or abstain from sexual intercourse during the study until 90 days beyond the last dose of study medication and the female partner agrees to comply with inclusion criteria 3 or 4.\n\n   For a vasectomized male who has had his vasectomy 6 months or more prior to study start, it is required that they use a condom during sexual intercourse. A male who has been vasectomized less than 6 months prior to study start must follow the same restrictions as a non-vasectomized male.\n6. If male, patient agrees not to donate sperm from the first dose until 90 days after their last dose.\n7. Patients must fall within:\n\n   a) A SARA score of 7 ≤ X ≤ 34 points (out of 40) AND b) Either: i. Within the 2-7 range (0-8 range) of the Gait subtest of the SARA scale OR ii. Be able to perform the 9-Hole Peg Test with Dominant Hand (9HPT-D) (SCAFI subtest) in 20 ≤ X ≤150 seconds.\n8. Weight ≥15 kg at screening.\n9. Patients are willing to disclose their existing medications\u002Ftherapies for (the symptoms) of NPC including those on the prohibited medication list. Non-prohibited medications\u002Ftherapies (authorized medicines for NPC \\[e.g. miglustat\\], speech therapy, and physiotherapy) are permitted provided:\n\n   1. The Investigator does not believe the medication\u002Ftherapy will interfere with the study protocol\u002Fresults\n   2. Patients have been on a stable dose\u002Fduration and type of therapy for at least 42 days before Visit 1 (Baseline 1)\n   3. Patients are willing to maintain a stable dose\u002Fdo not change their therapy throughout the duration of the study.\n10. An understanding of the implications of study participation, provided in the written patient information and informed consent by patients or their legal representative\u002Fparent, and demonstrates a willingness to comply with instructions and attend required study visits (for children this criterion will also be assessed in parents or appointed guardians).\n\nExclusion Criteria:\n\n1. Patients who are unable to consistently Patients who have any known hypersensitivity or history of hypersensitivity to:\n\n   1. Acetyl-Leucine (DL-, L-, D-) or derivatives.\n   2. Excipients the IB1001 sachet (namely isomalt, hypromellose, and strawberry flavour).\n   3. Excipients the placebo sachet (namely isomalt, hypromellose, strawberry flavour, citric acid, microcrystalline cellulose, lactose, denatonium benzoate).\n2. Simultaneous participation in another clinical study or participation in any clinical study involving administration of an investigational medicinal product (IMP; 'study drug') for at least 42 days prior to Visit 1. At the discretion of the investigator, Medical Monitor, and Sponsor, the washout period for specific IMPs may be longer based on the pharmacological activity and pharmacokinetics of the drug.\n3. Patients with a physical, cognitive, or psychiatric condition which, at the investigator's discretion and in consultation with the Medical Monitor and Sponsor (as applicable), may put the patient at risk, may confound the study results, or may interfere with the patient's participation in the clinical study, i.e. reliably perform study assessments.\n4. Known or persistent use, misuse, or dependency of medication, drugs, or alcohol.\n5. Current or planned pregnancy or women who are breastfeeding.\n6. Patients with severe vision or hearing impairment (that is not corrected by glasses or hearing aids) that, at the investigator's discretion, interferes with their ability to perform study assessments.\n7. Patients who have been diagnosed with arthritis or other musculoskeletal disorders affecting joints, muscles, ligaments, and\u002For nerves that by themselves affects patient's mobility and, at the investigator's discretion, interferes with their ability to perform study assessments.\n8. Patients unwilling and\u002For not able to undergo a 42 day period from any of the following prohibited medication prior to Visit 1 (Baseline 1) and remain without prohibited medication through Visit 6.\n\n   1. N-Acetyl-DL-Leucine (e.g. Tanganil®);\n   2. N-Acetyl-L-Leucine (prohibited if not provided as IMP in the IB1001-301 trial);\n   3. Sulfasalazine;\n   4. Rosuvastatin.\n\n      \\-","4 Years",{"count":79,"type":21},53,"INTERVENTIONAL",[82],"PHASE3","A pivotal, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of Niemann Pick disease type C (NPC). The objective of this study is to evaluate the safety, tolerability and efficacy of N-acetyl-L-leucine (IB1001) compared to standard of care.\n\nFollowing this randomized, double-blind, placebo-controlled \"Parent Study\", an extension phase is conducted for (1) patients who completed the \"Parent Study\" and (2) patients who are enrolled directly into the Extension Phase. Currently, the Extension Phase provides patients with 3 years of open-label treatment.",[25],"2026-03-30",{"date":87,"type":38},"2026-04-03",{"date":89,"type":38},"2022-06-30",{"date":91,"type":21},"2030-12",{"name":93,"class":94},"IntraBio Inc","INDUSTRY",14,{"id":97,"slug":98,"hasResults":11,"nctId":99,"briefTitle":100,"officialTitle":101,"acronym":4,"eligibilityCriteria":102,"healthyVolunteers":11,"sex":16,"minAge":103,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":104,"phases":4,"briefSummary":105,"conditions":106,"keywords":4,"overallStatus":107,"whyStopped":4,"lastUpdateSubmitDate":108,"lastUpdatePostDateStruct":109,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":111,"locationsCount":113},"100386815","early-access-program-with-arimoclomol-in-us-patients-with-npc-100386815","NCT04316637","Early Access Program With Arimoclomol in US Patients With NPC","Early Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US","Inclusion Criteria:\n\n* The patient has a confirmed diagnosis of NPC (NPC1 or NPC2)\\* and at least one neurological symptom.\n* The patient is two years of age or above.\n* The patient is a permanent resident of US.\n* If taking miglustat (Zavesca®), the patient must have been on the target dose for the past six weeks.\n* If the patient is a sexually active female of child-bearing potential (post-menarche), it is agreed to use highly effective contraception during the EAP and until three weeks after the last dose of arimoclomol.\n* Confirmed negative urine pregnancy test for sexually active female of child-bearing potential (post-menarche).\n* All sexually active male patients with female partners of child-bearing potential (postmenarche) agree to use a condom in addition to the birth control used by their partners during treatment and until three weeks after the last dose of arimoclomol.\n* If the patient has a history of seizures, the condition must be adequately controlled, i.e., the pattern of seizure activity must be stable, and the patient must be on a stable dose and regimen of antiepileptic medication during one month prior to screening.\n* Patient or parent\u002Fguardian must provide written informed consent to participate in EAP.\n\n  * In line with Patterson et al. 2017\n\nExclusion Criteria:\n\n* Severe liver insufficiency.\n* Renal insufficiency.\n* The patient has a known or suspected allergy or intolerance to arimoclomol or its constituents.\n* The patient is pregnant, planning to become pregnant (while on the EAP program) or is currently breastfeeding.\n* The patient will undergo treatment with another investigational drug\\*, whilst participating in the program or in the 4 weeks prior to commencing treatment with arimoclomol.\n* The patient is either eligible and able to participate in or is currently participating in an active interventional clinical trial within the indication.\n* The patient, in the opinion of the clinician, is unable to comply with the treatment or has a medical condition that would potentially increase the risk to the patient by participation.\n* The patient has a medical condition which hinders the clinician's assessment of arimoclomol safety and efficacy (e.g. certain epileptic conditions or severe cataplexy).\n\n  * Including unlicensed product provided under an Early Access Program or equivalent compassionate use programs","2 Years","EXPANDED_ACCESS","NPC is a rare, relentlessly progressive, neurological disease and associated with serious morbidity and shortened life expectancy.\n\nThe purpose of this Expanded Access Program is to provide early access to arimoclomol for patients with Niemann-Pick Type C disease who, in the opinion and the clinical judgement of the treating physician, may benefit from treatment with arimoclomol.\n\nParticipants will receive treatment with arimoclomol until their doctor finds it does not help them anymore, they withdraw, or the study is stopped for any reason.",[25],"AVAILABLE","2024-08-15",{"date":110,"type":38},"2024-08-16",{"name":112,"class":94},"ZevraDenmark",13]