Mitochondrial Diseases
Conditions
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.
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.
Interventions
OTHERobservational
observational
Sponsors
Wellcome Trust
Newcastle-upon-Tyne Hospitals NHS Trust
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| A normal neurodevelopmental quotient scored using a Bayley-III ( Bayley Scales of Infant and Toddler Development, Third Edition) at 18 months (corrected | 18 months | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 1)Normal hearing as assessed by formal audiology, | 18 months | Formal Audiology |
| 2)Normal vision as assessed by ophthalmologist | 18 months | Ophthalmology Assessment |
Countries
United Kingdom
Outcome results
None listed