Clinical trials: Dysferlinopathy
Dysferlinopathy
rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies
The proposed clinical trial is a double-blind, randomized controlled study with direct intramuscular injection of rAAVrh.74.MHCK7.DYSF.DV gene vector to the extensor digitorum brevis muscle (EDB).
- Trial name
- NCT02710500
- Testing
- rAAVrh74.MHCK7.DYSF.DV
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Sarepta Therapeutics, Inc.
Dysferlinopathy
Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin
Dysferlin is a protein with an important role in the repair of muscle surface membranes. Mutations in dysferlin cause different forms of muscular dystrophies.
- Trial name
- Dysferlin (NCT01863004)
- Testing
- Bortezomib
- Where
- Switzerland
- Volunteers
- 3 people
- Sponsor
- University Hospital, Basel, Switzerland
Dysferlinopathy, Miyoshi Myopathy
Clinical, Immunological, Morphological and Genetic Characteristics of Patients With Dysferlinopathy (LGMD R2) in the RF
To evaluate specific characteristics of phenotype, immune status, molecular and genetic as well as morphological characteristics of adult patients with limb-girdle muscular dystrophy R2 in various regions of the Russian…
- Conditions
- Dysferlinopathy, Miyoshi Myopathy, LGMDR2, DMAT
- Trial name
- DYSF-RUS (NCT04824040)
- Where
- Russia
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Artgen Biotech
Muscular Dystrophies, Limb-Girdle Muscular Dystrophy Type 2B
Dysferlinopathy Protein in Peripheral Blood Monocytes.
The objective of the study is to answer the following important questions. Deficiency of the dysferlin protein is the cause of a very rare limb-girdle muscular dystrophy (LGMD-2B) that leads to significant disability.
- Conditions
- Muscular Dystrophies, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy, Distal Myopathy With Anterior Tibial Onset
- Trial name
- NCT06507215
- Testing
- Protein analysis
- Where
- Spain
- Volunteers
- 149 people, healthy volunteers welcome
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Dysferlinopathy, LGMD2B Now Classified as LGMDR2
Clinical Outcome Study for Dysferlinopathy
The "Clinical Outcome Study for Dysferlinopathy" is being performed in centres in Europe (UK- Newcastle; Spain- Barcelona, Sevilla; San Sebastian;Denmark, Copenhagen, Italy- Padova; France- Paris,), USA (Charlotte, NC; Columbus…
- Conditions
- Dysferlinopathy, LGMD2B Now Classified as LGMDR2, Miyoshi Myopathy
- Trial name
- Jain COS (NCT01676077)
- Where
- 16 sites in United States, Chile and 7 more
- Volunteers
- 200 people
- Sponsor
- Newcastle-upon-Tyne Hospitals NHS Trust
LGMD2B, Miyoshi Myopathy
Deflazacort in Dysferlinopathies
The present study is designed to assess the natural history in a one year pre-phase of the trial and evaluate therapeutic efficacy and side effects of deflazacort in LGMD2B/MM patients in a placebo-controlled trial.
- Conditions
- LGMD2B, Miyoshi Myopathy, Dysferlinopathy
- Trial name
- NCT00527228
- Testing
- deflazacort
- Where
- Germany
- Volunteers
- 25 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Limb-girdle Muscular Dystrophy
A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy…
- Trial name
- NCT04475926
- Where
- 26 sites in United States, Belgium and 8 more
- Volunteers
- 205 people
- Sponsor
- Sarepta Therapeutics, Inc.
Dysferlinopathy
Observational Cohort Study of Dysferlinopathy in China
The cohort data to be collected aims to evaluate the phenotype, disease progression, natural history, as well as molecular, genetic, and morphological characteristics of dysferlinopathies (LGMD2B/Miyoshi) in China, contributing…
- Trial name
- NCT07035145
- Where
- China
- Volunteers
- 160 people
- Sponsor
- Peking University First Hospital