Clinical trials: Hereditary Inclusion Body Myopathy
Muscular Dystrophies, Muscle Inflammation
Safety and Efficacy of a Flavonoids- and omega3s-based Compound for the Treatment of Muscular Dystrophies
The study aimed to assess the safety and, partially, the efficacy of dietary supplementation of a flavonoids-, DHA- and EPA-based natural supplement in non-ambulant DMD boys and in a cohort of LGMD and FSHD patients to compare…
- Trial name
- PRO1 (NCT03317171)
- Testing
- Flavonoids, DHA, EPA
- Where
- Italy
- Volunteers
- 29 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Hereditary Inclusion Body Myopathy (HIBM)
Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM)
Hereditary Inclusion Body Myopathy (HIBM) is a severe progressive metabolic myopathy caused by a defect in the biosynthetic pathway for sialic acid (SA), a critical component of many muscle proteins, resulting in a deficiency in…
- Trial name
- NCT01359319
- Testing
- Sialic Acid Extended Release (SA-ER) Tablets, Sialic Acid Extended Release (SA-ER) Tables
- Where
- 2 sites in United States
- Volunteers
- 26 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Nonaka Myopathy, Hereditary Inclusion Body Myopathy
Pharmacokinetic Study on N-acetylneuraminic Acid
The aim of this study is to investigate pharmacokinetics and safety of N-acetylneuraminic acid in patients with Distal myopathy with rimmed vacuoles (DMRV) - hereditary inclusion body myopathy (hIBM).
- Trial name
- NCT01236898
- Testing
- NPC-09
- Where
- Japan
- Volunteers
- 6 people
- Sponsor
- Tohoku University
GNE Myopathy
Multi-Center Study of ManNAc for GNE Myopathy
GNE myopathy is a rare genetic muscle disease characterized by progressive muscle atrophy and weakness. The disease is caused by mutations in the gene that encodes the enzyme that initiates and regulates N-acetylneuraminic acid…
- Trial name
- MAGiNE (NCT04231266)
- Testing
- ManNAc
- Where
- 10 sites in United States
- Volunteers
- 54 people
- Sponsor
- Leadiant Biosciences, Inc.
GNE Myopathy, GNE Related Diseases
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
Background: GNE Myopathy is a disease that causes walking difficulties and increasing muscle weakness. It usually develops in young adults (between 20 and 30 years of age), and affects arm and leg muscles.
- Trial name
- NCT01417533
- Where
- United States
- Volunteers
- 78 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Becker Muscular Dystrophy, Sporadic Inclusion Body Myositis
Follistatin Gene Transfer to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis
The investigators are performing a gene therapy clinical trial in Becker muscular dystrophy (BMD) and sporadic inclusion body myositis (sIBM) patients.
- Trial name
- NCT01519349
- Testing
- rAAV1.CMV.huFollistatin344
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Nationwide Children's Hospital
Muscle Diseases
Acceptance and Commitment Therapy for Muscle Disease
In adults, muscle diseases are usually chronic long-term conditions that do not have a definitive cure. Supportive care has been shown to reduce complications from muscle disease and improved survival in some cases.
- Trial name
- ACTMuS (NCT02810028)
- Testing
- Acceptance and Commitment Therapy (ACT)
- Where
- United Kingdom
- Volunteers
- 155 people
- Sponsor
- King's College Hospital NHS Trust
GNE Myopathy
An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy
Background: Patients with GNE myopathy have progressive muscle weakness and can have difficulty walking and decreased mobility. The disease is a rare genetic disorder that results from a gene mutation in a key step in the body's…
- Trial name
- NCT02346461
- Testing
- ManNAc
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1)
Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders
The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD).
- Conditions
- Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1), Myotonic Dystrophy Type 2, Spinal Muscular Atrophy Type 3
- Trial name
- NCT04907162
- Testing
- Beck depression inventory fast screen, German Pain Inventory, Brief Pain Inventory
- Where
- Germany
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- LMU Klinikum
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
GNE Myopathy, Hereditary Inclusion Body Myopathy
A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy
GNE myopathy or hereditary inclusion body myopathy (HIBM) is a severe progressive metabolic myopathy caused by a defect in the biosynthetic pathway for sialic acid (SA).
- Trial name
- GNE Myopathy (NCT01517880)
- Testing
- Sialic Acid Extended Release (SA-ER)
- Where
- 4 sites in United States, Israel
- Volunteers
- 46 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Hereditary Inclusion Body Myopathy (HIBM), GNE Myopathy
Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
Background: Hereditary inclusion body myopathy (HIBM) is a genetic disorder caused by mutations in a gene called GNE. This gene is responsible for producing a sugar called sialic acid.
- Trial name
- NCT01634750
- Testing
- ManNAc
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive
Natural History in CCFDN and IBM Syndromes
So far, only limited data is available regarding the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM).
- Conditions
- Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive, Inclusion Body Myopathy, Autosomal-dominant, Congenital Cataracts, Facial Dysmorphism, And Neuropathy
- Trial name
- NCT01902940
- Testing
- Natural History
- Where
- Germany
- Volunteers
- 350 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Hereditary Inclusion Body Myopathy, GNE Myopathy
GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
HIBM is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and…
- Conditions
- Hereditary Inclusion Body Myopathy, GNE Myopathy, Nonaka Disease, Quadriceps Sparing Myopathy (QSM)
- Trial name
- NCT01784679
- Where
- 5 sites in United States, Bulgaria and 3 more
- Volunteers
- 319 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles
Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
The objective of this study is to evaluate the long-term safety and efficacy of Ace-ER treatment in subjects with GNEM.
- Conditions
- Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy
- Trial name
- NCT02736188
- Testing
- Aceneuramic Acid Extended-Release Tablets
- Where
- 14 sites in United States, Bulgaria and 5 more
- Volunteers
- 143 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
GNE Myopathy
First-in-human Study of UX016 in GNEM
The goal of this study is to assess the safety and dose of UX016 and its impact on muscle strength in adults with GNE Myopathy (GNEM).
- Trial name
- NCT07511556
- Testing
- UX016
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles
A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment
The primary objective of this Phase 2 study is to evaluate the safety of open-label 6 g/day Ace-ER in GNEM participants with severe ambulatory impairment.
- Conditions
- Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy
- Trial name
- NCT02731690
- Testing
- Aceneuramic Acid Extended-Release
- Where
- 5 sites in United States, Bulgaria and 1 more
- Volunteers
- 42 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Post-COVID-19 Condition, Ulcerative Colitis
Emerging Indications for Hyperbaric Oxygen Treatment
This study will evaluate the effectiveness of hyperbaric oxygen therapy (HBOT) on treating emerging indications (i.e., conditions that have shown to potentially benefit from HBOT) using the Multicenter Registry for Hyperbaric…
- Conditions
- Post-COVID-19 Condition, Ulcerative Colitis, Crohn Disease, Calciphylaxis
- Trial name
- NCT07240649
- Testing
- Hyperbaric oxygen treatment (HBOT), 100% Oxygen
- Volunteers
- 100 people
- Sponsor
- Jay C. Buckey Jr.