Clinical trials: Pompe Disease
Inclusion Body Myositis, Myotonic Dystrophy 1
The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.
The planned project is an intervention study to assess the risk of falling after adaptation of an assistive gait devices in patients with the following neuromuscular diseases: Inclusion body myositis, myotonic dystrophy, limb…
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy 1, Myotonic Dystrophy 2, Facio-Scapulo-Humeral Dystrophy
- Trial name
- Risk of fall (NCT07072676)
- Testing
- Assistive gait devices combined with physiotherapy
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- LMU Klinikum
Late-onset Pompe Disease
STRIDE Study - A Study in Subjects With LOPD Who Are Currently Being Treated With ERT
The purpose of the study is to evaluate changes in key clinical outcome measures (eg, motor, respiratory, fatigue) in adult subjects with late-onset Pompe disease (LOPD) subjects receiving standard-of-care enzyme replacement…
- Trial name
- NCT03347253
- Where
- 21 sites in United States, Australia and 2 more
- Volunteers
- 12 people
- Sponsor
- Amicus Therapeutics
Pompe Disease Infantile-Onset
Evaluation of the Safety and Efficacy of Infantile-onset Pompe Disease Gene Therapy Drug
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.
- Trial name
- NCT05793307
- Testing
- GC301
- Where
- 5 sites in China
- Volunteers
- 16 people
- Sponsor
- GeneCradle Inc
Pompe Disease (Late-onset)
Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug
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.
- Trial name
- NCT06391736
- Testing
- GC301
- Where
- China
- Volunteers
- 33 people
- Sponsor
- GeneCradle Inc
Pompe Disease
Drug-drug Interaction Study
This study evaluates drug-drug interactions between AT2220 (duvoglustat) and recombinant human alpha-glucosidase (rhGAA, also known as alglucosidase alfa) in participants with Pompe Disease.
- Trial name
- NCT01380743
- Testing
- duvoglustat, rhGAA
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- Amicus Therapeutics
Pompe Disease, Pompe Disease (Late-onset)
MSOT in Pompe Disease
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.
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Pompe's Disease Juvenile Onset, Pompe Disease Infantile-Onset
- Trial name
- SPOT_PD (NCT05083806)
- Testing
- Multispectral Optoacoustic Tomography
- Where
- Germany
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Erlangen-Nürnberg Medical School
Pompe's Disease
Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen
Primary Objective: To evaluate the effect of one-year Alglucosidase alfa treatment on motor function [Six-minute walk test (6MWT) and lung function predicted Forced vital capacity (FVC)] among Chinese Late Onset Pompe Disease…
- Trial name
- APOLLO-LOPD (NCT04676373)
- Testing
- ALGLUCOSIDASE ALFA
- Where
- China
- Volunteers
- 41 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease, Pompe Disease (Late-onset)
A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
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).
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, Glycogen Storage Disease Type II
- Trial name
- NCT04093349
- Testing
- SPK-3006
- Where
- 29 sites in United States, Canada and 6 more
- Volunteers
- 4 people
- Sponsor
- Spark Therapeutics, Inc.
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Pompe Disease (Late-onset), GAA Deficiency
Treatment Frequency Reduction in Pompe Disease
The aim of this study is to assess if dosing frequency reduction of alglucosidase alfa 20 mg/kg once every 2 weeks to once every 4 weeks is safe and does not lead to increased progression of disease in a selected group of…
- Conditions
- Pompe Disease (Late-onset), GAA Deficiency, Glycogen Storage Disease Type II, Acid Maltase Deficiency
- Trial name
- TRIPOD (NCT06575829)
- Testing
- Algucosidase alfa 20 mg/kg once every 4 weeks instead of once every 2 weeks
- Volunteers
- 10 people
- Sponsor
- Erasmus Medical Center
Pompe Disease
Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
This study intends to evaluate dynamic respiratory motor performance as a valuable measure of pulmonary function in adults with late-onset Pompe disease.
- Trial name
- DRMF (NCT02354664)
- Testing
- Thoracic MRI, Spirometry, Inspiratory Load Compensation
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of Florida
Glycogen Storage Disease Type II;Pompe's Disease
Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease
Primary Objective: To determine the effect of avalglucosidase alfa treatment on respiratory muscle strength measured by percent (%) predicted forced vital capacity (FVC) in the upright position, as compared to alglucosidase alfa.
- Trial name
- COMET (NCT02782741)
- Testing
- Avalglucosidase alfa (GZ402666), Alglucosidase alfa (GZ419829)
- Where
- 69 sites in United States, Argentina and 23 more
- Volunteers
- 101 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease, Pompe Disease
Pompe Lactation Sub-Registry
The objective is to determine if alglucosidase alfa is present in breast milk from mothers with Pompe Disease being treated with alglucosidase alfa and to measure breast milk production and composition in women with Pompe Disease…
- Trial name
- NCT00566878
- Testing
- alglucosidase alfa
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease Type II Pompe Disease
Avalglucosidase Alfa Extension Study
Primary Objective: Long-term safety and pharmacokinetics (PK) of avalglucosidase alfa Secondary Objective: Long-term effect of avalglucosidase alfa on pharmacodynamic variables
- Trial name
- NEO-EXT (NCT02032524)
- Testing
- Avalglucosidase Alfa
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 19 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease, Mucopolysaccharidosis Type I (MPS I)
A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting
Primary objective: To obtain data pertaining to the safety and tolerability of alglucosidase alfa and laronidase treatments administered in a home-care infusion setting.
- Trial name
- HomERT (NCT05073783)
- Where
- Italy
- Volunteers
- 57 people
- Sponsor
- Sanofi
Pompe Disease (Late-onset)
Evaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD)
This is a single-center, single-arm, open-label, single-dose treatment clinical study to evaluate the safety, tolerability and efficacy of CRG003 injection in participants with late onset Pompe disease (LOPD), with a long-term…
- Trial name
- NCT06178432
- Testing
- CRG003 injection
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Huashan Hospital
Pompe Disease
Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease
Health related quality of life (HrQoL), is "the patient's subjective perception of the impact of his disease and its treatment on his daily life, physical, psychological and social functioning and well-being" and thus constitutes…
- Trial name
- Pompe_HrQol (NCT04724213)
- Testing
- Testing of reliability / validity of new questionnaire
- Where
- Switzerland
- Volunteers
- 101 people
- Sponsor
- University Children's Hospital, Zurich
Pompe Disease, Muscle Loss
Nutritional Therapy in Late-onset Pompe Disease
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.
- Conditions
- Pompe Disease, Muscle Loss, Obesity, Nutrition Poor
- Trial name
- PDT-MIS (NCT06130228)
- Testing
- Multi-ingredient supplement (PDT-MIS)
- Volunteers
- 28 people
- Sponsor
- McMaster University
Infantile-onset Pompe Disease
Clinical Exploration of Adeno-associated Virus (AAV) Expressing Human Acid Alpha- Glucosidase (GAA) Gene Therapy for Patients With Infantile-onset Pompe Disease
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.
- Trial name
- NCT05567627
- Testing
- Genetic: GC301
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Seventh Medical Center of PLA General Hospital
Pompe Disease (Late-onset), Inclusion Body Myositis
Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease
The primary aim of this nationwide, explorative, cross-sectional study in Germany is to characterize the prevalence, severity and quality of musculoskeletal pain in adult patients with late-onset Pompe disease (LOPD).
- Conditions
- Pompe Disease (Late-onset), Inclusion Body Myositis, Spinal Muscular Atrophy Type 3, FSHD
- Trial name
- NCT05272969
- Testing
- Beck depression inventory fast screen (Questionnaire), Brief Pain Inventory (BPI) (Questionnaire), German Pain Inventory (Questionnaire)
- Where
- Germany
- Volunteers
- 95 people
- Sponsor
- LMU Klinikum