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

JRCT ID: jRCT1050210136

Registered date:18/12/2021

Basic Information

• Recruitment status: Pending
• Health condition(s) or Problem(s) studied: Myotonic dystrophy type 1
• Date of first enrollment: 18/12/2021
• Target sample size: 8
• Study type: Observational

Outcome(s)

Primary Outcome

Criteria for establishment and differentiation of iPS cells
1) Undifferentiated markers: NANOG, OTC-3/4, SSEA-4, TRA1-60
2) Proliferative potential: viability, proliferation rate (doubling rate)
3) Differentiation potential: Confirmation of markers of differentiation into trichoderm by immunostaining
ectoderm (Pax6), endoderm (Sox17), mesoderm (T)
4) Donor identity evaluation: STR test
5) Karyotype analysis: G-band analysis
6) Contamination confirmation: Mycoplasma confirmation test, Bacteria confirmation test

The same items will be evaluated for any iPS cells established from patient and healthy relative specimens.

Key inclusion & exclusion criteria

• Age minimum: Not applicable
• Age maximum: <= 40age old
• Gender: Both

Include 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.

Exclude 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.

Related Information

• Primary Sponsor: Fujimoto Toshio