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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-jRCT1050210136

Enrollment

Registered

2021-12-18

Start date

2021-12-18

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Myotonic dystrophy type 1

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

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: 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.

Design outcomes

Primary

Measure	Time frame
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.	—

Measure

Time frame

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.

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Contacts

Public ContactKeiko Ishigami

General Incorporated Association iD4

keiko.ishigami@takeda.com+81-466321744

Outcome results