Mitochondrial Donation: An 18 Month Outcome Study.

The Investigator proposes to record the fetal and postnatal development of children conceived using Mitochondrial Donation (MD) and to perform expert assessment of development at 18 months (corrected for gestational age) using the internationally validated Bayley-III developmental assessment tool.

Study Overview

• Status: Recruiting
• Conditions: Mitochondrial Diseases
• Intervention / Treatment: Other: observational

Detailed Description

To record the fetal and postnatal development of children conceived using Mitochondrial Donation and to perform internationally validated Bayley-III developmental assessment tool at 18 months (corrected for gestational age).

The null hypothesis for this research is that children born following the use of Mitochondrial Donation (IVF) techniques have normal neurodevelopment developmental outcomes at 18 months.

• Study Type: Observational
• Enrollment (Estimated): 25

Contacts and Locations

Study Locations

• United Kingdom
  • Tyne & Wear
    • Newcastle Upon Tyne, Tyne & Wear, United Kingdom, NE1 4LP
      • Recruiting
      • The Newcastle Upon Tyne Hospitals NHS Foundation Trust
      • Contact: Robert McFarland; Phone Number: 0191 2820340; Email: robert.mcfarland@ncl.ac.uk

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Women with mitochondrial disease undergoing mitochondrial donation treatment

Description

Inclusion Criteria:

Women will only be eligible if they meet all of the following criteria.

• Women with confirmed mtDNA mutation
• Suitable to undergo Mitochondrial Donation as a treatment (in line with HFEA license)
• Informed Consent for the study obtained before Mitochondrial Donation treatment commences
• Ability and willingness to adhere to the protocol including evaluation schedule
• Willingness to make available information collected during pregnancy, delivery and up to the child's age of 18 months (corrected for gestational age)

Exclusion Criteria:

Women will not be eligible if they meet any of the following criteria

• Declined Mitochondrial Donation as a treatment (in line with HFEA license)
• Inability or unwillingness to adhere to the protocol including evaluation schedule
• Unwillingness to make available information collected during pregnancy, delivery and up to the child's age of 18 months (corrected for gestational age)

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
A normal neurodevelopmental quotient scored using a Bayley-III ( Bayley Scales of Infant and Toddler Development, Third Edition) at 18 months (corrected	The Bayley Scale of Infant and Toddler Development, Third Edition (Bayley III) measures physical, motor, sensory, and cognitive development in babies and young children. The scale encompasses five developmental domains - cognitive, language, motor, social-emotional and adaptive behaviour. The structure of the Bayley-III Scales allows clinicians to administer each of the five scales (cognitive, language-receptive and expressive, motor-fine and gross, social-emotional, and adaptive behaviour) independent of others. Higher scores in each scale indicates more advanced development. Performance is summarised via scaled scores for each subtest, and composite scores for each scale, together with percentile ranks, developmental age equivalents, and growth scores. Discrepancy information is used to determine whether there are significant differences between a child's abilities in the domains measured, and how prevalent these differences are in the norming sample. A total score is not provided.	18 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
1)Normal hearing as assessed by formal audiology,	Formal Audiology	18 months
2)Normal vision as assessed by ophthalmologist	Ophthalmology Assessment	18 months

Collaborators and Investigators

• Sponsor: Newcastle-upon-Tyne Hospitals NHS Trust
• Collaborators: Wellcome Trust

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2017
• Primary Completion (Estimated): November 30, 2027
• Study Completion (Estimated): November 30, 2027

Study Registration Dates

• First Submitted: August 13, 2018
• First Submitted That Met QC Criteria: October 1, 2019
• First Posted (Actual): October 2, 2019

Study Record Updates

• Last Update Posted (Actual): July 20, 2025
• Last Update Submitted That Met QC Criteria: July 16, 2025
• Last Verified: May 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Mitochondrial Diseases
• Other Study ID Numbers: 8075

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No