Research for the realization of criteria for on-demand provision of iPS cells for myotonic dystrophy type 1

Not Applicable

• Conditions: Myotonic dystrophy type 1; D009223

• Registration Number: JPRN-jRCT1050210136
• Lead Sponsor: Fujimoto Toshio

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2021-12-18
• Last Update Posted: 17 October 2023

Recruitment & Eligibility

• Status: Pending
• Sex: All
• Target Recruitment: 8

Inclusion Criteria

Selection Criteria for Patients with Myotonic Dystrophy Type 1
(1) Disease name: Myotonic dystrophy
(2) Disease type: Myotonic dystrophy type 1
(3) Patients with DMPK mutation
(4) Age of onset: 40 years or younger
Diagnosis criteria of myotonic dystrophy type 1
Myotonic dystrophy type 1 is suspected in patients with characteristic muscle weakness, and is confirmed by DMPK gene analysis.

Selection criteria for healthy relatives of patients with myotonic dystrophy type 1
(1) Blood relatives of patients with myotonic dystrophy type 1 within the third degree of consanguinity (biological parents, biological grandparents, biological siblings, biological siblings of biological parents)
(2) Non-symptomatic patients with myotonic dystrophy type 1
(3) In the absence of a relative within the third degree of consanguinity, a healthy person of the same sex and age as the patient with myotonic dystrophy type 1 at the time of sample (specimen) collection. A healthy person who does not have characteristic muscle weakness as described in 8.1.

Exclusion Criteria

Exclusion Criteria for Patients with Myotonic Dystrophy Type 1
(1) Age of onset: 41 years or older
(2) Patients infected with HBV, HCV, HIV1, HIV2, or HTLV-1
(3) Other patients deemed inappropriate for this study by the investigators of the collaborating institutions.

Exclusion criteria for healthy relatives of patients with myotonic dystrophy type 1
(1) Patients with myotonic dystrophy type 1
(2) Patients infected with HBV, HCV, HIV1, HIV2, or HTLV-1
(3) Other healthy relatives of patients who are deemed inappropriate for this study by the investigators of the collaborating institutions.

Study & Design

• Study Type: Observational
• Study Design: Not specified