Investigations Into ISCU Myopathy or Iron Sulfur Scaffold... | NCT01547767

Studies
Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

NCT01547767

Sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Status

Completed

Last Update Posted

Mar 4, 2021Actual

Enrollment

2Actual

Phase

Not provided

Conditions

Myopathy

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
12-CH-0062

Status Module

Record Verification Date

Mar 2021

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 1, 2012Actual

Primary Completion Date

Mar 3, 2021Actual

Completion Date

Mar 3, 2021Actual

First Submitted Date

Mar 6, 2012

First Submission Date that Met QC Criteria

Mar 6, 2012

First Posted Date

Mar 8, 2012Estimated

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

Mar 3, 2021

Last Update Posted Date

Mar 4, 2021Actual

Description Module

Brief Summary

Background:

- A mutation in a gene known as ISCU was found to be the cause of a rare myopathy that affects the muscles. Researchers collected clinical samples from people with this myopathy. More research is being done to develop a therapy for this disease. Researchers are asking for permission to study the samples already collected.

Objectives:

- To allow researchers to use clinical samples collected to study new treatments for ISCU myopathy.

Eligibility:

- People with ISCU myopathy who have provided clinical samples for study.

Design:

Participants will allow researchers to study clinical samples already collected. Blood, urine, muscle, and cell samples may be used. Medical records and photographs may also be studied.
Treatment will not be provided as part of this study.

Detailed Description

In 2008, NIH investigators collaborated to find a mutation in the human gene, ISCU, which is the official human gene name for a gene involved in assembly of iron sulfur clusters, and is abbreviated from Iron Sulfur Cluster assembly protein, U, which was identified as the cause of a rare myopathy that affected about 25 patients in Sweden. This protocol is intended to allow for the collection and analysis of clinical specimens and medical information from several research subjects who previously participated in studies that led to identification of the disease gene.

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

No data available

No data is available for this block.

Enrollment

2Actual

Eligibility Module

Eligibility Criteria

INCLUSION CRITERIA:
Subjects will be eligible for this study if they have ISCU myopathy or carry a mutation in ISCU.

No exclusions will be made based on gender or, ethnicity and adults

will be the only patients included.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

80 Years

Standard Ages

AdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Tracey A Rouault, M.D.	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
National Institutes of Health Clinical Center, 9000 Rockville Pike		Bethesda	Maryland	20892	United States

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
18304497	Background	Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14.
14213465

ID	Term
D009140	Musculoskeletal Diseases
D009468	Neuromuscular Diseases
D009422	Nervous System Diseases