Clinical Trials Logo

Pompe Disease Infantile-Onset clinical trials

View clinical trials related to Pompe Disease Infantile-Onset.

Filter by:
  • None
  • Page 1

NCT ID: NCT05793307 Recruiting - Clinical trials for Pompe Disease Infantile-Onset

Evaluation of the Safety and Efficacy of Infantile-onset Pompe Disease Gene Therapy Drug

Start date: June 2, 2023
Phase: Phase 1/Phase 2
Study type: Interventional

This study is being conducted to evaluate the safety and effectiveness of GC301 adeno-associated virus vector expressing codon-optimized human acid alpha-glucosidase (GAA) as potential gene therapy for Pompe disease. Patients diagnosed with infantile-onset Pompe disease who are younger than 6 months old will be studied.

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: NCT05083806 Recruiting - Pompe Disease Clinical Trials

MSOT in Pompe Disease

SPOT_PD
Start date: May 17, 2022
Phase: N/A
Study type: Interventional

In patients with Pompe disease (PD) a progressive abnormal lysosomal glycogen storage in muscle tissue leads to impaired muscle function and to degeneration of muscle fibers. Children and adults with PD present with limb-girdle muscular weakness, diaphragm weakness and impaired breathing ability. Further, patients with classic infantile PD suffer from hypertrophic cardiomyopathy. To date, the muscle pathology and the extent of the disease can be assessed using invasive techniques (e.g., muscle biopsies) or imaging (e.g., MRI). These techniques are time consuming, and especially in young patients, require anesthesia, which increases the acute risk of respiratory failure. Multispectral optoacoustic tomography (MSOT) allows the detection of specific endogenous chromophores like collagen, myoglobin or hemoglobin by using a non-invasive approach comparable to conventional ultrasound. Instead of sound waves, MSOT illuminates tissue with near-infrared light of transient energy, which is absorbed and results in thermo-elastic expansion of certain molecules. This expansion generates ultrasound waves that are detected by the same device. Multispectral illumination and unmixing then allows the precise localisation and quantification of muscle-specific subcellular structures. MSOT has already been demonstrated the potential to visualize the muscular structure and the clinical extent of muscular disease in patients with Duchenne muscle dystrophy and differentiates those patients from healthy volunteers. The aim of the study is to establish glycogen as a novel PD-specific imaging target using MSOT-imaging. It intends to identify a PD-specific muscle pathology-signature by quantification of already established targets (collagen, myoglobin, hemoglobin, glycogen if applicable). This signature will aid in differentiating PD from other muscular pathologies and healthy volunteers and will ultimately serve as a potential non-invasive monitoring biomarker.

NCT ID: NCT04755751 Recruiting - Clinical trials for Pompe Disease Infantile-Onset

Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.

Start date: June 24, 2018
Phase:
Study type: Observational

Our aims are to investigate the acute and long term effect of ERT on exercise capacity; comparing the effect of different ERT dosages (as prescribed by the clinician according to clinical judgment) and assessing the relationship between enzyme blood level and exercise capacity. Such evaluation may allow a more objective quantification of the response to ERT.

NCT ID: NCT04532047 Recruiting - Wolman Disease Clinical Trials

In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases

IUERT
Start date: July 1, 2021
Phase: Phase 1
Study type: Interventional

The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.

NCT ID: NCT04327973 Available - Clinical trials for Pompe Disease Infantile-Onset

Expanded Access for ATB200/AT2221 for the Treatment of IOPD

Start date: n/a
Phase:
Study type: Expanded Access

This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200/AT2221.

NCT ID: NCT01597596 Terminated - Glycogenosis 2 Clinical Trials

A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease

Start date: August 2012
Phase: Phase 4
Study type: Interventional

A study to demonstrate comparable safety, efficacy, and pharmacokinetics (PK) of alglucosidase alfa manufactured at the 160 litre (L) and 4000 L scales in participants who had been diagnosed with infantile-onset Pompe disease. Participants were treated with alglucosidase alfa 160 L scale product in the United States (US) and 4000 L scale product in the regions outside the US.

NCT ID: NCT00763932 Completed - Clinical trials for Glycogen Storage Disease Type II

Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies

Start date: April 2003
Phase: Phase 2
Study type: Interventional

This extension study was to monitor the long-term safety and efficacy of rhGAA treatment in patients with infantile-onset Pompe disease who were previously treated with rhGAA derived from the Synpac cell line