Mitochondrial Donation: An 18 Month Outcome Study.

NCT04113447 | Recruiting

• 1 other identifier: 8075
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Mitochondrial Diseases

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• 1)Normal hearing as assessed by formal audiology,

  18 months

• 2)Normal vision as assessed by ophthalmologist

  18 months

Interventions

observational OTHER

observational

Eligibility Criteria

• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Women with mitochondrial disease undergoing mitochondrial donation treatment

You may qualify if:

• 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)

You may not qualify if:

• 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)

Sponsors & Collaborators

• Newcastle-upon-Tyne Hospitals NHS Trust: lead
• Wellcome Trust: collaborator

Study Sites (1)

The Newcastle upon Tyne Hospitals NHS Foundation Trust

Newcastle upon Tyne, Tyne & Wear, NE1 4LP, United Kingdom

RECRUITING

MeSH Terms

Conditions

Mitochondrial Diseases

Interventions

Watchful Waiting

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Outcome Assessment, Health Care; Outcome and Process Assessment, Health Care; Quality of Health Care; Health Services Administration

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 13, 2018
• First Posted: October 2, 2019
• Study Start: November 1, 2017
• Primary Completion (Estimated): November 30, 2027
• Study Completion (Estimated): November 30, 2027
• Last Updated: July 20, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)