NCT00313677

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
190

participants targeted

Target at P50-P75 for all trials

Timeline
50mo left

Started Apr 2006

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress83%
Apr 2006Jul 2030

Study Start

First participant enrolled

April 1, 2006

Completed
9 days until next milestone

First Submitted

Initial submission to the registry

April 10, 2006

Completed
2 days until next milestone

First Posted

Study publicly available on registry

April 12, 2006

Completed
24.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2030

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2030

Last Updated

July 30, 2025

Status Verified

July 1, 2025

Enrollment Period

24.3 years

First QC Date

April 10, 2006

Last Update Submit

July 24, 2025

Conditions

Muscular Dystrophy

Keywords

muscular dystrophyMDfukutin-related protein genelimb girdleFKRP genecongenital muscular dystrophychildhood onset LGMDadult onset LGMDPOMT1POMT2POMGnT1LARGEalpha dystroglycandystroglycanopathyISPD/CRPPADPM 1, 2 or 3GMPPBB3GNT1/B4GAT1B3GALNT2GTDC2/POMGnT2TMEM5/RXYLT1FukutinDAG1POMK/SGK196DOLKTRAPPC11GOSR2INPP5K

Outcome Measures

Primary Outcomes (1)

  • 10 meter walk

    time to walk 10 meters without assistive device

    through study completion, an average of 1 yea

Secondary Outcomes (1)

  • 4 stair climb

    through study completion, an average of 1 yea

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

neuromuscular care clinic

You may qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Iowa, 200 Hawkins Drive

Iowa City, Iowa, 52242, United States

RECRUITING

Related Publications (17)

  • Crockett CD, Bertrand LA, Cooper CS, Rahhal RM, Liu K, Zimmerman MB, Moore SA, Mathews KD. Urologic and gastrointestinal symptoms in the dystroglycanopathies. Neurology. 2015 Feb 3;84(5):532-9. doi: 10.1212/WNL.0000000000001213. Epub 2015 Jan 7.

    PMID: 25568299BACKGROUND

  • Mathews KD, Stephan CM, Laubenthal K, Winder TL, Michele DE, Moore SA, Campbell KP. Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. Neurology. 2011 Jan 11;76(2):194-5. doi: 10.1212/WNL.0b013e3182061ad4. No abstract available.

    PMID: 21220724BACKGROUND

  • Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD. GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23.

    PMID: 26310427BACKGROUND

  • Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD. Uniparental disomy unveils a novel recessive mutation in POMT2. Neuromuscul Disord. 2018 Jul;28(7):592-596. doi: 10.1016/j.nmd.2018.04.003. Epub 2018 Apr 10.

    PMID: 29759639BACKGROUND

  • Lee AJ, Jones KA, Butterfield RJ, Cox MO, Konersman CG, Grosmann C, Abdenur JE, Boyer M, Beson B, Wang C, Dowling JJ, Gibbons MA, Ballard A, Janas JS, Leshner RT, Donkervoort S, Bonnemann CG, Malicki DM, Weiss RB, Moore SA, Mathews KD. Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. Neurol Genet. 2019 Mar 1;5(2):e315. doi: 10.1212/NXG.0000000000000315. eCollection 2019 Apr.

    PMID: 31041397BACKGROUND

  • Gonzalez-Perez P, Smith C, Sebetka WL, Gedlinske A, Perlman S, Mathews KD. Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant). Neuromuscul Disord. 2020 Mar;30(3):213-218. doi: 10.1016/j.nmd.2020.01.002. Epub 2020 Jan 25.

    PMID: 32115343BACKGROUND

  • Hagedorn JL, Dunn TM, Bhattarai S, Stephan C, Mathews KD, Pfeifer W, Drack AV. Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9). Doc Ophthalmol. 2023 Feb;146(1):7-16. doi: 10.1007/s10633-022-09909-4. Epub 2022 Nov 18.

    PMID: 36399172BACKGROUND

  • Weiss RM, Kerber RE, Jones JK, Stephan CM, Trout CJ, Lindower PD, Staffey KS, Campbell KP, Mathews KD. Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. J Am Soc Echocardiogr. 2010 Aug;23(8):848-53. doi: 10.1016/j.echo.2010.05.007. Epub 2010 Jun 19.

    PMID: 20646909BACKGROUND

  • Brun BN, Mockler SR, Laubscher KM, Stephan CM, Wallace AM, Collison JA, Zimmerman MB, Dobyns WB, Mathews KD. Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology. 2017 Feb 14;88(7):623-629. doi: 10.1212/WNL.0000000000003609. Epub 2017 Jan 13.

    PMID: 28087826BACKGROUND

  • Gedlinske AM, Stephan CM, Mockler SRH, Laubscher KM, Laubenthal KS, Crockett CD, Zimmerman MB, Mathews KD. Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up. Neurology. 2020 Oct 13;95(15):e2131-e2139. doi: 10.1212/WNL.0000000000010604. Epub 2020 Aug 6.

    PMID: 32764098BACKGROUND

  • Brun BN, Mockler SR, Laubscher KM, Stephan CM, Collison JA, Zimmerman MB, Mathews KD. Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I. J Child Neurol. 2017 Feb;32(2):204-209. doi: 10.1177/0883073816677680. Epub 2016 Nov 22.

    PMID: 27872178BACKGROUND

  • Libell EM, Bowdler NC, Stephan CM, Zimmerman MB, Gedlinske AM, Mathews KD. The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9. Muscle Nerve. 2021 Jun;63(6):812-817. doi: 10.1002/mus.27184. Epub 2021 Feb 10.

    PMID: 33501999BACKGROUND

  • Libell EM, Richardson JA, Lutz KL, Ng BY, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman BM, Edens ER, Reinking BE, Mathews KD. Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related. Muscle Nerve. 2020 Nov;62(5):626-632. doi: 10.1002/mus.27052. Epub 2020 Sep 10.

    PMID: 32914449BACKGROUND

  • Coffey LN, Stephan CM, Zimmerman MB, Decker CK, Mathews KD. Diagnostic delay in patients with FKRP-related muscular dystrophy. Neuromuscul Disord. 2021 Dec;31(12):1235-1240. doi: 10.1016/j.nmd.2021.08.013. Epub 2021 Sep 6.

    PMID: 34857438BACKGROUND

  • Reelfs AM, Stephan CM, Mockler SRH, Laubscher KM, Zimmerman MB, Mathews KD. Pain interference and fatigue in limb-girdle muscular dystrophy R9. Neuromuscul Disord. 2023 Jun;33(6):523-530. doi: 10.1016/j.nmd.2023.05.005. Epub 2023 May 19.

    PMID: 37247532BACKGROUND

  • Carlson CR, McGaughey SD, Eskuri JM, Stephan CM, Zimmerman MB, Mathews KD. Illness-associated muscle weakness in dystroglycanopathies. Neurology. 2017 Dec 5;89(23):2374-2380. doi: 10.1212/WNL.0000000000004720. Epub 2017 Nov 3.

    PMID: 29101272BACKGROUND

  • Reelfs AM, Stephan CM, Czech TM, Cox MO, Joseph S, Darbro BW, Moore SA, Campbell KP, Mathews KD. UDP-glucose dehydrogenase variants cause dystroglycanopathy. Ann Clin Transl Neurol. 2025 Jun;12(6):1302-1308. doi: 10.1002/acn3.70002. Epub 2025 Apr 17.

    PMID: 40245099BACKGROUND

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

fibroblasts, whole blood

MeSH Terms

Conditions

Muscular DystrophiesMuscular Dystrophy, Limb-Girdle, Type 2IWalker-Warburg SyndromeMuscular Dystrophy, Limb-Girdle, Type 2M

Condition Hierarchy (Ancestors)

Muscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCobblestone LissencephalyLissencephalyMalformations of Cortical Development, Group IIMalformations of Cortical DevelopmentNervous System MalformationsEye Diseases, HereditaryEye DiseasesCongenital Abnormalities

Study Officials

  • Katherine Mathews, M.D.

    University of Iowa

    PRINCIPAL INVESTIGATOR

  • Kevin Campbell, Ph.D.

    Co-Investigator

    STUDY DIRECTOR

  • Steven A. Moore, M.D. Ph.D.

    Co-Investigator

    STUDY DIRECTOR

Central Study Contacts

Carrie Stephan, R.N. M.A.

CONTACT

(319) 356-2673

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Professor and Principal Investigator

Study Record Dates

First Submitted

April 10, 2006

First Posted

April 12, 2006

Study Start

April 1, 2006

Primary Completion (Estimated)

July 1, 2030

Study Completion (Estimated)

July 1, 2030

Last Updated

July 30, 2025

Record last verified: 2025-07

Data Sharing

IPD Sharing
Will not share

Locations

US(1)