Eligibility Module
The Eligibility Module contains detailed information about who can participate in the clinical trial. This includes eligibility criteria, age restrictions, gender requirements, healthy volunteer status, and study population descriptions, helping researchers understand who is eligible to participate in the study.
Eligibility Module path is as follows:
Study -> Protocol Section -> Eligibility Module
Eligibility Module
Ignite Creation Date:
2025-12-25 @ 12:46 AM
Ignite Modification Date:
2025-12-25 @ 12:46 AM
NCT ID:
NCT05127967
Eligibility Criteria:
Case inclusion criteria
* age \> or equal to 18 years
* presence of neurological symptoms compatible with GSP7 (ataxia, spasticity progressive external ophthalmoplegia, and/or optic atrophy)
* presence of two mutations in the SPG7 gene (= recessive forms of SPG7) or of a single mutation in the simple heterozygous state in the absence of other genetic factors explaining the symptoms
Inclusion criteria for controls
* Age \> or equal to 18 years
* Subject who is already undergoing neurosurgical intervention as part of the care pathway for an for an acquired, non-genetic neurological problem (e.g. herniated disc, narrow lumbar canal)
Non-inclusion Criteria of cases
* Refusal to sign the written informed consent signed by the patient (or by his representative in case of a patient under guardianship.
* Patients with specific contraindications for skin biopsy current anticoagulant treatment; any pathologies that may cause a risk of bleeding (e.g. hemophiliacs)
* Refusal of the patient, of the guardian if necessary, to sign the informed consent to participate in the in the research
* Not being a beneficiary of a social protection plan Patient deprived of liberty
Non-inclusion Criteria of controls
* Patients with a genetic neurological disease or mitochondrial disease
* Patients with specific contraindications for skin biopsy: current anticoagulant treatment; all pathologies that may cause a risk of bleeding (e.g. hemophilia)
* Refusal to sign the informed consent to participate in the research
* Not benefiting from a social protection plan
* Patient deprived of liberty
* Patient under guardianship or curatorship
Healthy Volunteers:
False
Sex:
ALL
Minimum Age:
18 Years
Study:
NCT05127967
Study Brief:
Protocol Section:
NCT05127967