Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

2 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-02-01

Study Completion Date

2021-03-03

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

FSHD Molecular Characterization

NCT06096441

Facio-Scapulo-Humeral Dystrophy

TERMINATED

Assessment Of Liver and Spleen Fibrosis in Patients With Gaucher Disease Using Fibroscan

NCT01898325

Fibrosis

UNKNOWN NA

Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics

NCT01675674

Mucopolysaccharidoses Mucopolysaccharidosis I Mucopolysaccharidosis II +2 more

TERMINATED

Facioscapulohumeral Dystrophy in Children

NCT02625662

Neurological Observations Facioscapulohumeral Muscular Dystrophy Pediatric Disorder

COMPLETED

Miglustat in Niemann-Pick Type C Disease

NCT00517153

Niemann-Pick Type C Disease

COMPLETED PHASE2

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Myopathy

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.

Minimum Eligible Age

18 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No