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

Fujimoto Toshio0 个研究点目标入组 8 人开始时间: 2021年12月18日最近更新: 2023年10月17日

适应症

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•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 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.

发起方

Fujimoto Toshio