Genetic Modifiers of Cystic Fibrosis Related Diabetes | NCT01113216

Studies
Genetic Modifiers of Cystic Fibrosis Related Diabetes

NCT01113216

Sponsor

Johns Hopkins University

Status

Enrolling by invitation

Last Update Posted

Apr 13, 2026Actual

Enrollment

1,500Estimated

Phase

Not provided

Conditions

Cystic Fibrosis Related Diabetes

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
K23DK083551	U.S. NIH Grant/Contract		View source
CFF-CFRD01	Other Identifier	Other

Status Module

Record Verification Date

Apr 2026

Overall Recruitment Status or Expanded Access Status

Enrolling by invitation

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 2008

Primary Completion Date

Apr 2030Estimated

Completion Date

Apr 2030Estimated

First Submitted Date

Apr 28, 2010

First Submission Date that Met QC Criteria

Apr 28, 2010

First Posted Date

Apr 29, 2010Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 9, 2026

Last Update Posted Date

Apr 13, 2026Actual

Name	Class
Cystic Fibrosis Foundation	OTHER
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)	NIH
University of Minnesota	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

This research is being done to find the genes and other factors that are responsible for differences among persons with cystic fibrosis. We are particularly interested in the factors that relate to the development of Cystic Fibrosis Related Diabetes (CFRD).

Detailed Description

The study is recruiting people with cystic fibrosis (CF). The medical record is being extracted, and a blood sample is taken for DNA. The DNA samples are tested for variation both at the cystic fibrosis transmembrane conductance regulator (CFTR) gene (the CF gene) and over the entire rest of the genome. Using large numbers of people with CF, and knowing who does and does not have CFRD, we identify genetic variations that associate with CFRD. Knowing these variations allows us to better understand the causes of CFRD, and with enough information, better to predict CFRD and identify people at particularly high or low risk of CFRD. People participating in this study also have the option to participate in related studies of other metabolic traits in CF such as over- and underweight.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

1,500Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Identification of Genes or other factors that influence the development of CFRD		5 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Any person with Cystic Fibrosis and his/her parents.

Exclusion Criteria:

None

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

3 Months

Maximum Age

99 Years

Standard Ages

ChildAdultOlder Adult

Study Population

Individuals affected with Cystic Fibrosis and family members

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Scott M Blackman, MD, PhD	Johns Hopkins University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Children's Memorial Hospital		Chicago	Illinois		United States
Johns Hopkins Medicine

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
39260370	Background	Ling H, Raraigh KS, Pugh EW, Aksit MA, Zhang P, Pace RG, Faino AV, Bamshad MJ, Gibson RL, O'Neal W, Knowles MR, Blackman SM, Cutting GR; CF Genome Project. Genetic modifiers of body mass index in individuals with cystic fibrosis. Am J Hum Genet. 2024 Oct 3;111(10):2203-2218. doi: 10.1016/j.ajhg.2024.08.004. Epub 2024 Sep 10.
31697830	Background	Aksit MA, Pace RG, Vecchio-Pagan B, Ling H, Rommens JM, Boelle PY, Guillot L, Raraigh KS, Pugh E, Zhang P, Strug LJ, Drumm ML, Knowles MR, Cutting GR, Corvol H, Blackman SM. Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits. J Clin Endocrinol Metab. 2020 May 1;105(5):1401-15. doi: 10.1210/clinem/dgz102.

ID	Term
D044882	Glucose Metabolism Disorders
D008659	Metabolic Diseases
D009750	Nutritional and Metabolic Diseases
D004700	Endocrine System Diseases