[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"niemann-pick-diseases\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:niemann-pick-diseases":135},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,50,111],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":34,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":49},"100634883","retinal-hyperspectral-imaging-in-neurodegenerative-diseases-100634883",false,"NCT07545473","Retinal Hyperspectral Imaging in Neurodegenerative Diseases","Inclusion Criteria:\n\n1. Aged over 30 years.\n2. Have dementia or a neurodegenerative disease such as Alzheimer's disease, Parkinson's disease, Lewy body dementia, Niemann-Pick type 2 or vascular dementia (age-matched and sex-matched controls will also be recruited).\n3. With the exception of participants with Parkinson's disease and Lewy body disease, for whom clinical examination by a neurologist is sufficient to establish a clinical diagnosis of probable dementia with Lewy Body or probable Parkinson disease dementia, all participants must have previously undergone at least of one of the following tests to help to confirm a clinical diagnosis of dementia or neurodegenerative disease: genetic tests, blood biomarker tests (amyloid, tau, neurofilament light), a brain amyloid beta PET scan, or cerebrospinal fluid tests.\n4. Have a minimum best corrected visual acuity level of 6\u002F60 in both eyes and no major eye problems, such as advanced age-related macular degeneration, advanced glaucoma, or greater than moderate non-proliferative diabetic retinopathy.\n5. Be willing to participate in the study and attend the Centre for Eye Research Australia.\n6. Be accompanied by a friend or family member.\n\nExclusion Criteria:\n\n1. Inability to provide informed consent\n2. Ocular conditions preventing adequate retinal imaging (e.g., dense cataract, severe corneal opacity, vitreous haemorrhage)\n3. Known contraindication to pharmacological pupil dilation\n4. Any condition that, in the investigator's opinion, would compromise participant safety or image quality",true,"ALL","30 Years",{"count":19,"type":20},930,"ESTIMATED","INTERVENTIONAL",[23],"NA","Hyperspectral retinal imaging is a non-invasive imaging modality in which a series of images of the retina are captured using light of different wavelengths. The resulting \"hypercube\" of data provides a wealth of information about the retinal structure. Our group has developed evidence supporting a role for this technology in the detection of retinal amyloid beta in Alzheimer's disease. We are undertaking further studies to establish the role of this method in the assessment of people with dementia, or those at risk of Alzheimer's disease. In addition, we wish to test whether the approach may have value in other forms of dementia or neurodegenerative disease such as Parkinson's disease, Lewy-Body dementia or vascular dementia.",[26,27,28,29,30,31,32,33],"Dementia","Neurodegenerative Diseases","Alzheimer Disease","Parkinson Disease","Frontotemporal Dementia","Vascular Dementia","Lewy Body Disease","Niemann-Pick Diseases",[35,36],"Hyperspectral imaging","Retina","RECRUITING","2026-04-21",{"date":40,"type":41},"2026-04-22","ACTUAL",{"date":43,"type":41},"2021-10-11",{"date":45,"type":20},"2028-12-31",{"name":47,"class":48},"Center for Eye Research Australia","OTHER",1,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":54,"acronym":4,"eligibilityCriteria":55,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":56,"targetDuration":4,"studyType":58,"phases":4,"briefSummary":59,"conditions":60,"keywords":87,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":102,"lastUpdatePostDateStruct":103,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":109,"locationsCount":49},"100311346","longitudinal-study-of-neurodegenerative-disorders-100311346","NCT03333200","Longitudinal Study of Neurodegenerative Disorders","Inclusion Criteria:\n\n* Any patient with a genetic neurodegenerative disorder\n\nExclusion Criteria:\n\n* none",{"count":57,"type":20},1500,"OBSERVATIONAL","The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.",[61,62,63,64,65,66,67,68,69,70,71,72,73,74,33,75,76,77,78,79,80,81,82,83,84,85,86],"MLD","Krabbe Disease","ALD","MPS I","MPS II","MPS III","Vanishing White Matter Disease","GM3 Gangliosidosis","PKAN","Tay-Sachs Disease","NP Deficiency","Osteopetrosis","Alpha-Mannosidosis","Sandhoff Disease","MPS IV","Gaucher Disease","GAN","GM1 Gangliosidoses","Morquio Disease","S-Adenosylhomocysteine Hydrolase Deficiency","Batten Disease","Pelizaeus-Merzbacher Disease","Leukodystrophy","Lysosomal Storage Diseases","Purine Nucleoside Phosphorylase Deficiency","Multiple Sulfatase Deficiency Disease",[88,89,90,91,92,93,94,95,96,97,98,99,100,101],"Pediatric","Rare","Neurodegenerative","Genetic","Neurodevelopment","Brain","MRI","Biorepository","NDRD","Longitudinal","Cognitive","Motor","Language","Adaptive behavior","2026-02-04",{"date":104,"type":41},"2026-02-09",{"date":106,"type":41},"2012-01-11",{"date":108,"type":20},"2035-01",{"name":110,"class":48},"University of Pittsburgh",{"id":112,"slug":113,"hasResults":11,"nctId":114,"briefTitle":115,"officialTitle":116,"acronym":4,"eligibilityCriteria":117,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":118,"enrollmentInfo":119,"targetDuration":4,"studyType":58,"phases":4,"briefSummary":121,"conditions":122,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":124,"lastUpdatePostDateStruct":125,"startDateStruct":127,"completionDateStruct":129,"leadSponsor":131,"locationsCount":134},"100530883","a-real-world-long-term-safety-and-immunogenicity-study-of-olipudase-alfa-therapy-in-pediatric-patients-less-than-2-years-of-age-with-acid-sphingomyelinase-deficiency-asmd-100530883","NCT06192576","A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)","A Prospective Observational Study to Assess the Long-term Safety and Immunogenicity of Olipudase Alfa Therapy During Routine Clinical Care in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency","Inclusion Criteria:\n\n* The participant must have ASMD type A\u002FB or B and must be \\\u003C2 years of age at the time of treatment initiation, OR ASMD type A (without age restriction).\n* The participant must weigh ≥ 2 kg \\[The United States Prescribing Information (USPI)\\] for olipudase alfa specifies this minimum weight for infants receiving olipudase alfa).\n* The participant must have documented ASMD, as determined in peripheral leukocytes, cultured fibroblasts, or lymphocytes and\u002For by genotype determination.\n* Signed informed consent must be provided by the participant's parent(s)\u002Flegal guardian(s), including compliance with the requirements and restrictions listed in the informed consent form (ICF) and in this protocol. The signed ICF must be provided before any protocol-related procedures are performed.\n* The participant is eligible to start olipudase alfa enzyme replacement therapy or has received the first dose (and no more) of olipudase alfa, and has retrievable clinical, laboratory, and ADA data.\n\nExclusion Criteria:\n\n* The participant has received an investigational drug within 30 days or 5 drug half-lives before signature of the ICF and study enrollment.\n* The participant is not suitable for participation for reasons determined by the Investigator, including medical or clinical conditions, or potential risk of noncompliance with study procedures.\n* The participant is an immediate family member of employees of the study site or other individuals directly involved in study conduct, in conjunction with Section 1.61 of ICH-GCP Ordinance E6.","2 Years",{"count":120,"type":20},10,"US, multicenter, cohort, open label observational study with primary data collection. Ancillary protocol-specified procedures to address the study objectives (eg, assessment of ADA) may be considered outside the standard of care for acid sphingomyelinase deficiency (ASMD), but the study methodology remains non-interventional, as the additional collection of data from participants will not dictate treatment. The total overall study duration will be 5 years. The follow-up period will be a minimum of 1 year to a maximum of 3 years. The enrollment period will be up to 4 years, to allow a minimum of 1 year of follow-up for the last participant enrolled.",[33,123],"Acid Sphingomyelinase Deficiency","2025-10-30",{"date":126,"type":41},"2025-10-31",{"date":128,"type":41},"2024-04-16",{"date":130,"type":20},"2029-01-15",{"name":132,"class":133},"Sanofi","INDUSTRY",5,"Niemann Pick Diseases"]