Clinical Trials Logo

Lysosomal Storage Diseases clinical trials

View clinical trials related to Lysosomal Storage Diseases.

Filter by:

NCT ID: NCT06130228 Not yet recruiting - Obesity Clinical Trials

Nutritional Therapy in Late-onset Pompe Disease

PDT-MIS
Start date: April 1, 2024
Phase: Phase 2
Study type: Interventional

RATIONALE: Pompe disease (PD) is a recessive genetic disorder wherein the body cannot break down glycogen due to a mutation in the acid alpha glucosidase (GAA) gene, which encodes for acid alpha-glucosidase. The adult/late onset form (LOPD) leads to glycogen accumulation and autophagic buildup, causing progressive muscle weakness that leads to wheelchair dependence, reduced quality of life and premature death due to cardiorespiratory insufficiency. While nutritional strategies, such as the low carbohydrate/high protein and ketogenic diets, have been used clinically, they are difficult to maintain and have limited benefits. Multi-ingredient supplementation (MIS) allows for targeting of several underlying pathogenic pathways and may be more convenient than traditional dietary strategies, thereby improving both adherence and LOPD pathology.

NCT ID: NCT05619900 Recruiting - Clinical trials for Mucopolysaccharidosis II

Registry of Patients Diagnosed With Lysosomal Storage Diseases

LSD Registry
Start date: May 31, 2022
Phase:
Study type: Observational [Patient Registry]

This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.

NCT ID: NCT04943991 Active, not recruiting - Fabry Disease Clinical Trials

Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score

FAPREV-HCM
Start date: July 1, 2021
Phase: N/A
Study type: Interventional

This study aims to evaluate the prevalence of Fabry Disease (FD) among a cohort of high risk patients with left ventricular hypertrophy (LVH) presenting at the University Hospital Würzburg over the last 20 years. Fabry disease is a rare disease that is known to be consistently underdiagnosed due to its largely variable symptoms. Considering that an early Fabry diagnosis is crucial for maximum benefit from therapies available, screening for Fabry patients can contribute to preventing development and worsening of symptoms in Fabry patients with LVH. In addition, a positive diagnosis in a family member opens the possibility to diagnose further family members in an earlier stage of the disease, therefore allowing treatment of symptoms and organ manifestations before they become irreversible.

NCT ID: NCT04455230 Completed - Fabry Disease Clinical Trials

A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190

Start date: September 8, 2020
Phase: Phase 1/Phase 2
Study type: Interventional

Fabry disease is a rare, X-linked inborn error of glycosphingolipid metabolism caused by an abnormal gene encoding the α-galactosidase A (αGLA) enzyme. The αGLA enzyme is ubiquitously expressed throughout the body and is responsible for the breakdown of glycosphingolipids, deficiency of which results in the accumulation of specific glycosphingolipids that are associated with the pathophysiology of the disease. Current treatment for Fabry disease is limited to the symptomatic management of pain, conventional management of complications, and methods to increase the availability of functional αGLA. This clinical study aims to investigate the long-term safety and durability of αGLA in patients who have been dosed with a new gene therapy product (FLT190) in earlier clinical studies.

NCT ID: NCT04399694 Suspended - Genetic Disease Clinical Trials

Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders

Start date: March 3, 2020
Phase:
Study type: Observational

The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.

NCT ID: NCT04393701 Recruiting - Clinical trials for Lysosomal Storage Diseases

A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry

LysoNeo
Start date: March 8, 2021
Phase: N/A
Study type: Interventional

The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected. Based on our previous pilot study (2011) assessing MCAD and PKU using tandem mass spectrometry-based method in Normandie region in which informed consents have been signed for all newborns (43,000) but we are expecting a great willingness to participate to this project. Thus, we are aiming to include 100,000 newborns, and the study will be continued until we reach at least this target. The primary objective is to evaluate the epidemiology of MPS1 and Pompe disease using dried blood samples in the first cohort of neonates tested in France (Normandie region).

NCT ID: NCT04283227 Active, not recruiting - Clinical trials for Metachromatic Leukodystrophy

OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)

Start date: January 17, 2022
Phase: Phase 3
Study type: Interventional

OTL-200 is a cryopreserved dispersion for infusion containing autologous CD34+ cell enriched population that contains haematopoietic stem and progenitor cells (HSPC) transduced ex vivo using a lentiviral vector encoding the human arylsulfatase A (ARSA) gene. MLD is an autosomal recessive lysosomal storage disorder (LSD) characterized by severe and progressive demyelination affecting the central and peripheral nervous system. The aim of this clinical study is to assess the pharmacodynamic effect and long-term clinical efficacy and safety of OTL-200 in Late Juvenile MLD patients.

NCT ID: NCT04189601 Withdrawn - Fabry Disease Clinical Trials

Complement Activation in the Lysosomal Storage Disorders

CATALYST
Start date: September 30, 2020
Phase:
Study type: Observational

The lysosomal storage disorders (LSDs) are monogenic disorders associated with inflammation affecting multiple organs, and early death. Few treatments are available that can modify the disease course, and there is an urgent need to identify new steps in pathogenesis that can be targeted therapeutically. The complement system is novel and highly plausible as a primary driver of inflammation and cellular injury in the LSDs. This study assesses the complement activation state in patients with Fabry disease (FD), Gaucher disease (GD) and Niemann-Pick disease, type C (NPC), with comparison to healthy controls. This has the potential for immense clinical benefit through targeted complement inhibition across the full spectrum of lysosomal storage disorders, in which key pathophysiological processes including the inflammatory response to lysosomally 'stored' materials are shared.

NCT ID: NCT04093349 Active, not recruiting - Pompe Disease Clinical Trials

A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)

Start date: October 1, 2020
Phase: Phase 1/Phase 2
Study type: Interventional

The purpose of this study is to evaluate the safety, tolerability, and efficacy of a single intravenous infusion of SPK-3006 in adults with clinically moderate, late-onset Pompe disease receiving enzyme replacement therapy (ERT). Participants will be treated in sequential, dose-level cohorts.

NCT ID: NCT04040049 Terminated - Fabry Disease Clinical Trials

A Fabry Disease Gene Therapy Study

MARVEL1
Start date: July 8, 2019
Phase: Phase 1/Phase 2
Study type: Interventional

This is a multinational, open-label study to assess the safety and efficacy of FLT190 in up to 15 adult male participants with classical Fabry disease.