NCT04454216

Brief Summary

Collection and review of clinical information related to Glycogen Storage Disease Type VI (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.

Trial Health

77
On Track

Trial Health Score

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

Enrollment
400

participants targeted

Target at P75+ for all trials

Timeline
44mo left

Started Sep 2020

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 Progress61%
Sep 2020Jan 2030

First Submitted

Initial submission to the registry

June 29, 2020

Completed
2 days until next milestone

First Posted

Study publicly available on registry

July 1, 2020

Completed
3 months until next milestone

Study Start

First participant enrolled

September 18, 2020

Completed
9.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2030

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2030

Last Updated

May 5, 2026

Status Verified

May 1, 2026

Enrollment Period

9.3 years

First QC Date

June 29, 2020

Last Update Submit

May 4, 2026

Conditions

Glycogen Storage Disease VIGLYCOGEN STORAGE DISEASE IXa1GLYCOGEN STORAGE DISEASE IXa2Glycogen Storage Disease IXBGlycogen Storage Disease IXCGSD 9 (All Subtypes)GSD 6

Outcome Measures

Primary Outcomes (4)

  • Progression of disease confirmed by medical record review

    through study completion, an average of 10 years

  • Serum biotinidase activity

    through study completion, an average of 10 years

  • Number of genotypes presented

    through study completion, an average of 10 years

  • Number of phenotypes presented

    through study completion, an average of 10 years

Interventions

No interventionOTHER

This is an observational study that consists of data abstraction from patient medical records.

Eligibility Criteria

Age0 Years - 90 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

All patients with GSD VI or GSD IX, regardless of gender or ethnicity, are eligible for enrollment.

You may qualify if:

  • Diagnosis of GSD VI or GSD IX via:
  • Deficient GP activity or PhK activity per enzymology
  • Histology as confirmed by clinician
  • Pregnant women with a diagnosis of GSD VI or GSD IX will be included
  • Able to provide informed consent for self (adults) or affected individual (minor or adults with a legally authorized representative)
  • Able to provide consent for release of medical records

You may not qualify if:

  • Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Duke University

Durham, North Carolina, 27710, United States

RECRUITING

Related Publications (1)

  • Koch RL, Fares AH, Cocanougher BT, Lim J, Haijer-Schreuder AB, Derks TGJ, Grunert SC, Sharma R, Jones KA, Kishnani PS. PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia. NPJ Genom Med. 2025 Nov 10;10(1):71. doi: 10.1038/s41525-025-00527-y.

    PMID: 41213961DERIVED

MeSH Terms

Conditions

Glycogen Storage Disease Type VIGlycogen Storage Disease, Type IXA2Glycogen Storage Disease IXBGlycogen Storage Disease IXC

Condition Hierarchy (Ancestors)

Glycogen Storage DiseaseCarbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Priya Kishnani, MD

    Duke University

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Rebecca L Koch, PhD, RDN

CONTACT

919-681-8823rebecca.koch@duke.edu

Nisha Dalal, M.S. CCC-SLP

CONTACT

919-668-3107nisha.dalal@duke.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Target Duration
20 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 29, 2020

First Posted

July 1, 2020

Study Start

September 18, 2020

Primary Completion (Estimated)

January 1, 2030

Study Completion (Estimated)

January 1, 2030

Last Updated

May 5, 2026

Record last verified: 2026-05

Data Sharing

IPD Sharing
Will not share

Locations

US(1)