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Niemann-Pick Diseases clinical trials

View clinical trials related to Niemann-Pick Diseases.

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NCT ID: NCT04469894 Completed - Clinical trials for Niemann-Pick Diseases

Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick

Start date: June 15, 2020
Phase:
Study type: Observational

This study is a US based qualitative PRO research study to document the health insurance literacy as well as the patient experience in Niemann-Pick as it relates to accessing desired care, services and medications for patients. The outcome of this research will be used to inform various other workstreams as NNPDF works to assist families. The core research objectives are to understand the following from Niemann-Pick patients and their families in the US

NCT ID: NCT04106544 Completed - Clinical trials for Sphingomyelin Lipidosis

A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)

Start date: September 27, 2019
Phase: N/A
Study type: Interventional

Primary Objective: - To describe the clinical features and their severity at the time of diagnosis and their evolution over time in patients with confirmed chronic visceral and chronic neurovisceral forms of ASMD - To describe Clinician-Reported Outcomes (ClinROs) and Patient-Reported Outcomes (PROs) at enrollment and their evolution over time; disease severity at the time of diagnosis and its evolution over time Secondary Objectives: - To describe abnormal values in laboratory parameters and all values of specific clinical and imaging assessments at the time of diagnosis and their evolution over time - To study the use and applicability towards validation of a newly developed ASMD disease severity scoring system - To study the use and applicability towards validation of a newly developed ASMD PRO tool - To describe ASMD-related disease burden among patients with ASMD, caregivers, and healthcare resource utilization - To describe the association between patient demographics (eg, age, gender, race, Ashkenazi ancestry) and genotype with selected clinical features in patients with confirmed chronic visceral and chronic neurovisceral forms of ASMD

NCT ID: NCT03910621 Completed - Clinical trials for Niemann-Pick Disease, Type C

Safety and Efficacy of Miglustat in Chinese NPC Patients

Start date: April 2, 2020
Phase: Phase 4
Study type: Interventional

This is a prospective, multi-center, open-label, non-randomized, single-arm Phase IV confirmatory study. Approximately 19 subjects with Niemann Pick Type C disease (NPC) will be enrolled in this study. The study will be conducted at 2 sites in China.

NCT ID: NCT03883750 Completed - Clinical trials for Niemann-Pick Diseases

Induced Pluripotent Stem Cells for Niemann Pick Disease

IPSNPABC
Start date: June 19, 2018
Phase:
Study type: Observational

Establishment of individualized human cellular disease models based on induced pluripotent stem cells that reflect the broad heterogeneous phenotypic spectrum of Niemann Pick disease

NCT ID: NCT03759639 Completed - Clinical trials for Niemann-Pick Disease, Type C

N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)

Start date: September 4, 2019
Phase: Phase 2
Study type: Interventional

This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Niemann-Pick type C disease (NPC). There are two phases to this study: the Parent Study, and the Extension Phase. The Parent Study evaluates the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the symptomatic treatment of NPC. The Extension Phase evaluates the long-term safety and efficacy of IB1001 for the neuroprotective, disease-modifying treatment of NPC.

NCT ID: NCT02939547 Completed - Clinical trials for Niemann-Pick Disease, Type C1

Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)

Start date: October 11, 2017
Phase: Phase 1
Study type: Interventional

This research study is being conducted to find out whether Trappsol® Cyclo™, an experimental treatment for people with Niemann Pick disease Type C (NPC-1) is safe at 2 different dose levels and what effects it has on people who have this condition. NPC-1 is caused by a defect in the 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 20 weeks (w) in total (including screening. treatment and follow-up). Recruitment is expected to take 6- 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. A sample(s) of cerebrospinal fluid (CSF) will be taken by lumbar puncture during the first treatment dose and may be collected during subsequent doses. Liver and skin biopsy specimens will be taken to assess filipin staining. Cholesterol metabolism will be investigated in liver samples and splenic and hepatic elasticity will be assessed by ultrasound. 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.This study is being sponsored and funded by CTD holdings Inc. It is planned to be run in the USA,.

NCT ID: NCT02912793 Completed - Clinical trials for Niemann-Pick Disease, Type C1

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

Start date: March 20, 2017
Phase: Phase 1/Phase 2
Study type: Interventional

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.

NCT ID: NCT02534844 Completed - Clinical trials for Niemann-Pick Disease, Type C

VTS-270 to Treat Niemann-Pick Type C1 (NPC1) Disease

Start date: October 2015
Phase: Phase 2/Phase 3
Study type: Interventional

Due to different study designs, the sponsor separated Part C into a separate registration (NCT04958642), leaving Parts A/B here in NCT02534844. This study is to find out how safe and effective VTS-270 is for patients with Niemann-Pick Type C1 (NPC1) disease who have neurologic symptoms (listed under Keywords). In Parts A/B, two out of every three patients will receive the study drug. The third patient will receive 1 to 2 small needle pricks at the location where the LP and IT injection is normally made (sham control). In Part C, all participants will receive study drug, as described in the Part C registration record. Start date for this record is the first day a participant was enrolled in Parts A/B. The trial is actually continuing until the last primary outcome measure of safety data are collected from Part C participants. The last primary outcome measure of safety, along with final adverse events results will be posted in the separate Part C registration record.

NCT ID: NCT02435030 Completed - Clinical trials for Niemann-Pick Disease, Type C

A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C

Start date: September 2015
Phase: N/A
Study type: Observational

This is a prospective non-therapeutic observational study in NP-C patients. The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical, imaging, biological(biomarkers) and quality of life data. Patients will be offered enrollment into a Phase II/III study on arimoclomol at the end of the study.

NCT ID: NCT02292654 Completed - Clinical trials for Sphingomyelin Lipidosis

Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency

ASCEND-Peds
Start date: May 1, 2015
Phase: Phase 1/Phase 2
Study type: Interventional

Primary Objective: To evaluate the safety and tolerability of olipudase alfa administered intravenously in pediatric participants every 2 weeks for 64 weeks. Secondary Objective: To characterize the pharmacokinetic profile and evaluate the pharmacodynamics and exploratory efficacy of olipudase alfa administered intravenously in pediatric participants every 2 weeks for 64 weeks.