Recruiting

Observational Study

Sponsor:

Katherine Mathews

Code:

NCT00313677

Conditions

Muscular Dystrophy

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The purpose of the study is to describe the early signs and symptoms of the dystroglycanopathies, and to gather information that will be required for future clinical trials.

Conditions

Muscular Dystrophy

Study ID

NCT00313677

Start date

Apr, 2006

Status verified date

Jul, 2025

Completion date

Jul, 2030

Anticipated

Primary completion date

Jul, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Elevated CK (creatine kinase)
  • Evidence of a dystroglycanopathy as determined by review of muscle pathology OR documented mutation in one of the known genes OR abnormal alpha-dystroglycan glycosylation in cultured fibroblasts
  • Dystroglycanopathies are predicted to affect all racial and ethnic backgrounds, and all patients with dystroglycanopathies will be eligible for participation.
  • Participants may be of any age, including children, and males and females will be recruited equally.
  • Patients will have varying degrees of muscular weakness, but otherwise should be in relatively good health.

Exclusion Criteria:

  • There are no exclusion criteria.

Study Design

Enrollment

190 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • 10 meter walk [ Time Frame: through study completion, an average of 1 yea ]

Central Contacts and Locations

Central contacts

Carrie Stephan, R.N. M.A.

(319) 356-2673

Locations

University of Iowa, 200 Hawkins Drive

Recruiting

Iowa City, Iowa, United States, 52242

Contacts

Carrie Stephan, R.N. M.A.

(319)356-2673

More Information

Sponsor

Katherine Mathews

Last update posted

Jul 30, 2025

Last verified

Jul, 2025

Keywords

  • muscular dystrophy
  • MD
  • fukutin-related protein gene
  • limb girdle
  • FKRP gene
  • congenital muscular dystrophy
  • childhood onset LGMD
  • adult onset LGMD
  • POMT1
  • POMT2
  • POMGnT1
  • LARGE
  • alpha dystroglycan
  • dystroglycanopathy
  • ISPD/CRPPA
  • DPM 1, 2 or 3
  • GMPPB
  • B3GNT1/B4GAT1
  • B3GALNT2
  • GTDC2/POMGnT2
  • TMEM5/RXYLT1
  • Fukutin
  • DAG1
  • POMK/SGK196
  • DOLK
  • TRAPPC11
  • GOSR2
  • INPP5K

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Katherine Mathews on 2025-07-30.