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Gangliosidosis, GM1 clinical trials

View clinical trials related to Gangliosidosis, GM1.

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NCT ID: NCT05368038 Enrolling by invitation - Fabry Disease Clinical Trials

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

ScreenPlus
Start date: May 10, 2021
Phase:
Study type: Observational

ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of disorders, 2) determine disease incidence in an ethnically diverse population, and 3) assess the impact of early diagnosis on health outcomes. Over a five-year period, ScreenPlus aims to screen 175,000 infants born in nine high birthrate, ethnically diverse pilot hospitals in New York for a flexible panel of 14 rare genetic disorders. This study will also involve an evaluation of the Ethical, Legal and Social issues pertaining to NBS for complex disorders, which will be done via online surveys that will be directed towards ScreenPlus parents who opt to participate and qualitative interviews with families of infants who are identified through ScreenPlus.

NCT ID: NCT05109793 Active, not recruiting - Sandhoff Disease Clinical Trials

GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)

PRONTO
Start date: February 22, 2022
Phase:
Study type: Observational

The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).

NCT ID: NCT04713475 Active, not recruiting - GM1 Gangliosidosis Clinical Trials

Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis

Imagine-1
Start date: March 17, 2021
Phase: Phase 1/Phase 2
Study type: Interventional

PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues. This study will assess in a 2 part design the safety, tolerability and efficacy of PBGM01 in patients with early onset infantile (Type 1) and late onset infantile (Type 2a) GM1 gangliosidosis

NCT ID: NCT04624789 Recruiting - Sandhoff Disease Clinical Trials

Registry Gangliosidoses

Start date: June 8, 2020
Phase:
Study type: Observational [Patient Registry]

The clinical project "Eight At One Stroke: Attention Gangliosidoses" represents a clinical registry for recording the clinical manifestation and the disease progression of gangliosidoses. The intention of this project is to better understand the manifestation and progression of gangliosidoses and to raise awareness of these disorders in the public health service. The patients or their families, respectively, will be integrated in the study in order to measure Patient Outcome and to objectify the psychosocial burden for the patient and his family. The study has a retrospective and a prospective part. It is planned to transfer the data of the study into a continuous registry.

NCT ID: NCT04470713 Completed - Sandhoff Disease Clinical Trials

Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2

RETRIEVE
Start date: July 31, 2019
Phase:
Study type: Observational

This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2). Information is planned to be gathered on at least 180 patients with GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2. Retrospective data collection is planned for at least 150 deceased patients (Group A). Group B is for patients alive at the time of enrollment. In Group B it is planned to prospectively collect more comprehensive data from at least 30 patients. The purpose of this study is to collect relevant information for a adequate design of a potential subsequent research program in these diseases. In this study no therapy is being offered.

NCT ID: NCT04395339 Recruiting - Breast Cancer Clinical Trials

GM1 Prophylaxis for WBRT Related Cognitive Dysfunction

GLORY
Start date: May 15, 2020
Phase: Phase 3
Study type: Interventional

To evaluate the efficacy and safety of GM1 for preventing cognitive impairment related to whole brain radiotherapy in breast cancer patients with brain metastases. And explore the clinical and molecular parameter for predicting severe cognitive impairment induced by WBRT and gaining benefit from GM1. Primary Endpoint: the change of Hopkins Verbal and Learning Test-Revised Delayed Recall,HVLT-R DR,before and after WBRT Secondary ENDPOINT: the change of Alzheimer's Disease Assessment Scale-Cognitive,ADAS-Cog before and after WBRT;severe cognitive impairment percentage and onset time; Design:204 patients will be randomly assigned to exp.group,102 cases,and 102 cases of control group.

NCT ID: NCT04320329 Not yet recruiting - Morquio B Disease Clinical Trials

Natural History of Morquio B and Late-Onset of GM1 Gangliosidosis

Start date: June 1, 2020
Phase:
Study type: Observational

Mucopolysaccharidosis type IVB (Morquio-B disease, MBD) is an autosomal-recessive lysosomal disease caused by mutations in a gene called GLB1. Clinically, Morquio B presents with progressive skeletal deformities involving mostly long bones and spine. While the information on GLB1 mutations associated with MBD is limited, there is a significant overlap in clinical presentation between Morquio B and late-onset GM1 gangliosidosis with both conditions being caused by mutations in the same GLB1 gene. In this study, the investigators plan to collect retrospective data from patients' medical charts, as well as, information from the prospective follow up clinic visits. There will be two study visits with the interval of one year. The study procedures will include a detailed physical exam, bone scans, heart and lung function, physical endurance tests, hearing test, laboratory tests and quality of life surveys. The purpose of this study is to collect data on the natural history of Morquio B and to create a biobank of laboratory samples (blood, urine and skin cells) for future research. This information will improve the understanding of the natural progression of Morquio B disease.

NCT ID: NCT04310163 Completed - GM1 Gangliosidosis Clinical Trials

Interviews and Video Capture in Patients With GM1 Gangliosidosis

Start date: April 20, 2020
Phase:
Study type: Observational

GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures. In addition, parents report that clinic-based assessments are not always well-suited to capture all the disease features and other metrics that have an impact on the patient and family. To address the methodological challenges of this small, heterogeneous population, this study will collect patient-specific home-based video data and qualitative interviews with caregivers.

NCT ID: NCT04273269 Terminated - GM1 Gangliosidosis Clinical Trials

A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 Gangliosidosis

Start date: May 11, 2021
Phase: Phase 1/Phase 2
Study type: Interventional

LYS-GM101 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the central nervous system. This study will assess, in a 2-stage adaptive-design, the safety and efficacy of treatment in subjects with infantile GM1 gangliosidosis.

NCT ID: NCT04041102 Recruiting - GM1 Gangliosidosis Clinical Trials

Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients

Start date: June 12, 2020
Phase:
Study type: Observational

Owing to the rarity, severity, speed of progression and fatal prognosis of infantile and juvenile GM1, there is a limited understanding of overall disease progression and meaningful outcome measures. This study aims to build a natural history data set through collection of a number of clinical, imaging, and laboratory assessments that may be specific predictors of GM1 disease progression and clinical outcome. Having a GM1 natural history data set can inform potential efficacy endpoints and biomarkers for future clinical trials. This natural history study will follow up to 40 subjects diagnosed with GM1 gangliosidosis (up to 20 infantile (Type 1) and 20 late infantile/juvenile (Type 2)) for up to 3 years. Visits will be conducted every 6 months, during which several procedures will be performed and the data recorded in order to learn about the natural course of the disease, including changes in clinical and neurological assessments and electrophysiologic, imaging and biofluid biomarkers. Study procedures include: physical & neurological exam, blood & urine sample collection, questionnaires & assessments of development, seizure diary, ECHO, ECG, x-ray and ultrasound (if MRI not performed), EEG and genetic testing (if not already done). The following procedures are subject to local/institutional policies and the medical discretion of the Study Physician: MRI, lumbar puncture (spinal tap) and General anesthesia/sedation (for MRI and LP).