our study is part of the multicentre study "e-OPMD": bringing focus to OPDM research in Europe. "Pathophysiology and therapeutic approaches in Oculopharyngeal Muscular Dystrophy (OPMD)"

our study is part of the multicentre study "e-OPMD": bringing focus to OPDM research in Europe. "Pathophysiology and therapeutic approaches in Oculopharyngeal Muscular Dystrophy (OPMD)" - e-OPMD

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON35337

Enrollment

Registered

2011-12-27

Start date

2012-02-09

Completion date

Unknown

Last updated

2024-05-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

muscular dystrophy of among other the eye- and swallowing-muscles oculopharyngeal muscular dystrophy (OPMD)

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Age between 18-80 years - Phenotype of autosomal OPMD. This phenotype inlcudes a positive family history with involvement of two or more generations. -The presence of ptosis (defined as either vertical separation of at least one palpebral fissure that measures less than 8 mm at rest) OR previous corrective surgery for ptosis -The presence of dysphagia, defined as swallowing time greater than seven seconds when drinking 80 mL of ice-cold water - Or confirmd OPMD by a 12-17 alanin trinucleotide repeat of the PABPN1 gene. - Or adult offspring of a newly diagnosed OPMD patient (and thus did not participate in the 2003 study)

Exclusion criteria

Exclusion criteria: - serious external ophtalmoplegia before the age of 60 - presence of myotonia - comorbidity affecting muscle dysfunction - abnormal bleeding

Design outcomes

Primary

Measure	Time frame
Outcome measures of our part of the study are: - Identification of deregulated pathways by OPMD onset by transcriptome analysis on the biopsies from presymptomatic OPMD patients. - Identification of deregulated pathways involved in disease progression. - Identification of deregulated pathways involved in the specific distribution of muscleweakness in OPMD. - Correlation of histological and clinical data of Dutch OPMD patients	—

Measure

Time frame

Outcome measures of our part of the study are: - Identification of deregulated pathways by OPMD onset by transcriptome analysis on the biopsies from presymptomatic OPMD patients. - Identification of deregulated pathways involved in disease progression. - Identification of deregulated pathways involved in the specific distribution of muscleweakness in OPMD. - Correlation of histological and clinical data of Dutch OPMD patients

—

Secondary

Measure	Time frame
The clinical and demographical characteristics like age, sex, body weight, length, age at onset, first complaint at onset, disease severity, co-morbidity and blood parameters (CK, ASAT, ALAT and LDH)	—

Countries

Netherlands

Outcome results