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Clinical trial

A Natural History Study of Neurodegeneration and Optic Atrophy Caused by SLC25A46 Mutations in Pediatric and Adult Patients

ID
Name
STUDY00004513-SLC
Description
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the solute carrier family 25 member 46 (SLC25A46) gene.
Trial arms
Trial start
2020-11-03
Estimated PCD
2023-08-17
Trial end
2023-08-17
Status
Completed
Treatment
Mutation analysis
The investigators will sequence DNA samples from the patients or their families.
Arms:
Patients with SLC25A46 deficiency
Size
9
Primary endpoint
Custom Medical History Questionnaire for Patients with SLC25A46 Mutation-related Mitochondriopathy
3 years
Retrospective examination of the medical records of patients with SLC25A46 Mutation-related Mitochondriopathy
3 years
Eye assessments to evaluate ocular health
3 years
Growth and development (height)
3 years
Growth and development (weight)
3 years
Growth and development (BMI)
3 years
Eligibility criteria
Inclusion Criteria: * Patients who are clinically diagnosed with biallelic mutations in the SLC25A46 gene * Male and female patients from 2 to 65 years of age * Patients who have consented to the study * In the case of a deceased patient whose parent(s) and/or legal guardian(s) have provided informed consent for study participation, the investigators will review the patient's medical records to determine study eligibility. Exclusion Criteria: * Significant postnatal complications or congenital anomalies that are not known to be associated with SLC25A46 dysfunction * Patient has received any experimental treatment for SLC25A46 dysfunction within the 6 months prior to enrollment, or is expected to receive any such therapy during the study period
Protocol
{'studyType': 'OBSERVATIONAL', 'patientRegistry': True, 'targetDuration': '3 Years', 'designInfo': {'observationalModel': 'CASE_ONLY', 'timePerspective': 'OTHER'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'The medical records will be retained for all patients. For select patients, blood, DNA, skin punch biopsies will also be obtained for the purpose of genetic and biochemical analysis'}, 'enrollmentInfo': {'count': 9, 'type': 'ACTUAL'}}
Updated at
2024-03-08

1 organization

1 product

4 indications

Organization
State University of New York at Buffalo
Product
Mutation analysis
Indication
Neurodegenerative Disease
Indication
Hereditary
Indication
Mitochondrial Diseases
Indication
Optic Atrophy