Pearson SyndromeNCT07911306
Investigation of the Treatment of Patients With Mitochondrial Defects by Assisted Reproductive Technology
A study testing Maternal spindle transfer in people with Pearson Syndrome and Mitochondria DNA Deletion, run by Taipei Fertility Center at 1 site in Taiwan.
Trial summary
Mitochondria are important organelles that generate energy (ATP) in human and mammalian cells. Currently, there are more than 50 kinds of diseases known to be related to mitochondrial defects in Taiwan. The incidence of mitochondrial diseases is very rare, about 1/5,000 to 1/10,000. Read more about this study
- Who is it for?
- Ages 20 to 45 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Pearson Syndrome, Mitochondria DNA Deletion
- What is being tested?
- Maternal spindle transfer
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteTaiwan
- Study dates
- 3 Apr 2025to 31 Dec 2059
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 20 to 45 years
- Women only
- Healthy volunteers accepted
- Adult
Who may be able to join
- Women with mitochondria defects or mutation as oocyte recipient.
- Women with history of miscarriages or deliveries of progenies carried mitochondria defects or mutations as oocyte recipient.
- Healthy oocyte donor: Healthy women aged 20-40 y/o as oocyte donor.
Who cannot join
- History of cervical cancer
- Carriers for other diseases that might affect the examination of PGS
- Pregnant women
- HIV infections
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Mitochondria are important organelles that generate energy (ATP) in human and mammalian cells. Currently, there are more than 50 kinds of diseases known to be related to mitochondrial defects in Taiwan. The incidence of mitochondrial diseases is very rare, about 1/5,000 to 1/10,000. The abundancy of mitochondria riches to 100,000 DNA copies in one oocyte, and the threshold of DNA mutation rate to cause pathogenicity is usually greater than 70%. Since mitochondria are inherited maternally, the pathogenic mitochondrial DNA in oocytes could be removed by modern artificial reproductive technology (ART). By treating with mitochondria replacement therapy (MRT), here we use the spindle transfer, following artificial insemination, the ooplasm from healthy donor oocytes could be transferred into the oocytes of patients to remove defected mitochondria, therefore creating the opportunity to produce healthy offspring. Therefore, in order to further detect the carrying rate of mutated mitochondrial genes in patients with mitochondrial defects after MRT, we aim to detect the mitochondria mutation in germ cells of patients in order to improve the specificity and operation procedures of this therapy.
Read the detailed description
Three cases with mitochondria disease and three healthy donor will be enrolled for MRT. The following specimens are expected to be collected in this study: (1) cumulus cells that surrounded the oocyte during egg retrieval, (2) clinically discarded ooplasm of donor oocytes harvested during MRT (3) the patient's own ooplasm, and (4) blastocyst trophectoderm (TE) biopsy completed by MRT. Those specimens will be sequenced to verify whether the mitochondrial DNA from donor is normal, and cross-comparison with the non-developed embryos after the MRT for improvement of heteroplasmy of mitochondrial DNA. Our study will establish the examination method to prevent the possibility of disease carried donating eggs with uncertain background accurately, and it helps to increase the precision and clinical applicability of MRT.
- Conditions
- Pearson Syndrome, Mitochondria DNA Deletion
- Being tested
- Maternal spindle transfer
- Keywords
- Maternal spindle transfer, Pearson syndrome, Assisted reproductive technology
- Medical subject headings
- VLCAD deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Maternal spindle transferProcedure or surgery
Using maternal spindle transfer technique to replace diseased ooplasm with healthy donor eggs.
| Study group | Role | What they receive |
|---|---|---|
| MRT group | Experimental | Single arm study. Percipitants with previous delivered child or fetus with mitochondria defects, will accept the intervention of mitochondria replacement therapy (MRT) during IVF cycle. Receives: Procedure: Maternal spindle transfer |
What is being measured
The primary outcome is the main question the study is designed to answer.
Mitochondria DNA heterogeneity
Measurement of heteroplasmy of mitochondria DNA in TE biopsied D5/D6 embryos.
Measured: Chromosome euploidy and mitochondria heteroplasmy after 3 months after embryo biopsy.
Secondary outcomes (1)
Obstetric outcome after embryo transfer
Embryos with low carryover will be transfered and obstetric outcome will be recorded.
Measured: Pregnancy outcome will be recorded after14th day for hCG examination. Gestational sac will be observed on 28 days after embryo transfer. Chromosome ploidy and mithchondria DNA heteroplasmy will be analyzed by amniocentesis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Nov 2026
- Study start3 Apr 2025
- Primary completion31 Dec 2043 (estimated)
- Study completion31 Dec 2059 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pearson SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Taipei Fertility Center
- Sponsor type
- University, hospital or other
- Collaborators
- Taipei Medical University, Taipei Medical University Hospital, Taipei Medical University Shuang Ho Hospital
- Responsible party
- Principal investigator, TZENG CHII RUEY, Taipei Fertility Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07911306
- Sponsor's protocol ID
- N202304104
- Status last verified
- Sep 2026
- First submitted
- 25 Jan 2026
- Last updated
- 2 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation of the Treatment of Patients With Mitochondrial Defects by Assisted Reproductive Technology
- ClinicalTrials.gov ID
- NCT07911306
- Acronym / sponsor ID
- N202304104
- Conditions
- Pearson Syndrome, Mitochondria DNA Deletion
- Keywords
- Maternal spindle transfer, Pearson syndrome, Assisted reproductive technology
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Taipei Fertility CenterUniversity, hospital or other
- Collaborators
- Taipei Medical University, Taipei Medical University Hospital, Taipei Medical University Shuang Ho Hospital
- Study start
- 3 Apr 2025 (actual)
- Primary completion
- 31 Dec 2043 (estimated)
- Study completion
- 31 Dec 2059 (estimated)
- First posted
- 2 Nov 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Mitochondria are important organelles that generate energy (ATP) in human and mammalian cells. Currently, there are more than 50 kinds of diseases known to be related to mitochondrial defects in Taiwan. The incidence of mitochondrial diseases is very rare, about 1/5,000 to 1/10,000. The abundancy of mitochondria riches to 100,000 DNA copies in one oocyte, and the threshold of DNA mutation rate to cause pathogenicity is usually greater than 70%. Since mitochondria are inherited maternally, the pathogenic mitochondrial DNA in oocytes could be removed by modern artificial reproductive technology (ART). By treating with mitochondria replacement therapy (MRT), here we use the spindle transfer, following artificial insemination, the ooplasm from healthy donor oocytes could be transferred into the oocytes of patients to remove defected mitochondria, therefore creating the opportunity to produce healthy offspring. Therefore, in order to further detect the carrying rate of mutated mitochondrial genes in patients with mitochondrial defects after MRT, we aim to detect the mitochondria mutation in germ cells of patients in order to improve the specificity and operation procedures of this therapy.
Detailed description
Three cases with mitochondria disease and three healthy donor will be enrolled for MRT. The following specimens are expected to be collected in this study: (1) cumulus cells that surrounded the oocyte during egg retrieval, (2) clinically discarded ooplasm of donor oocytes harvested during MRT (3) the patient's own ooplasm, and (4) blastocyst trophectoderm (TE) biopsy completed by MRT. Those specimens will be sequenced to verify whether the mitochondrial DNA from donor is normal, and cross-comparison with the non-developed embryos after the MRT for improvement of heteroplasmy of mitochondrial DNA. Our study will establish the examination method to prevent the possibility of disease carried donating eggs with uncertain background accurately, and it helps to increase the precision and clinical applicability of MRT.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| MRT group | Experimental | Procedure: Maternal spindle transferSingle arm study. Percipitants with previous delivered child or fetus with mitochondria defects, will accept the intervention of mitochondria replacement therapy (MRT) during IVF cycle. |
Who may qualify
- Ages
- 20 to 45 years
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult
Key inclusion criteria (3 listed)
- Women with mitochondria defects or mutation as oocyte recipient.
- Women with history of miscarriages or deliveries of progenies carried mitochondria defects or mutations as oocyte recipient.
- Healthy oocyte donor: Healthy women aged 20-40 y/o as oocyte donor.
Key exclusion criteria (4 listed)
- History of cervical cancer
- Carriers for other diseases that might affect the examination of PGS
- Pregnant women
- HIV infections
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Maternal spindle transferUsing maternal spindle transfer technique to replace diseased ooplasm with healthy donor eggs. | Procedure or surgery | MRT group |
Primary outcome
Mitochondria DNA heterogeneity
Time frame: Chromosome euploidy and mitochondria heteroplasmy after 3 months after embryo biopsy.
Measurement of heteroplasmy of mitochondria DNA in TE biopsied D5/D6 embryos.
1 secondary outcome
Obstetric outcome after embryo transfer
Time frame: Pregnancy outcome will be recorded after14th day for hCG examination. Gestational sac will be observed on 28 days after embryo transfer. Chromosome ploidy and mithchondria DNA heteroplasmy will be analyzed by amniocentesis
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Nov 2026.
Related trials for Pearson Syndrome
RecruitingPhase 2
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Mitochondrial Diseases, Pearson Syndrome
RecruitingObservational study
Global Registry and Natural History Study for Mitochondrial Disorders
Mitochondrial Diseases, Kearns-Sayre Syndrome
RecruitingObservational study
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Mitochondrial Disorders, Mitochondrial Genetic Disorders
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Maternal spindle transfer in people with Pearson Syndrome and Mitochondria DNA Deletion, run by Taipei Fertility Center at 1 site in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 2 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Mitochondria DNA heterogeneity (time frame: Chromosome euploidy and mitochondria heteroplasmy after 3 months after embryo biopsy.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Nov 2026.