A Study of the Natural Course of SURF1 Deficiency

NCT05277363 | Withdrawn

• 1 other identifier: TSHA-104-RG-001
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of the study is to prospectively and systematically collect standardized clinical information, to describe important features of the disease course of SURF1 deficiency. These include but are not limited to symptomatology, clinical course, and risk factors for severe disease and complications.

Conditions

Leigh Syndrome

Keywords

SURF1-associated Leigh Syndrome; Biomarkers; Epidemiology study; Genotype-phenotype correlation data; Leigh Syndrome; Primary Mitochondrial Disease; SURF1 deficiency; Natural History study; Neurodegenerative disease

Outcome Measures

Primary Outcomes (1)

• Change from baseline in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS)

  The NPMDS is scored by section (domain), and the final (total) score is the sum of all section scores. Function is rated over preceding 4-week period, according to participant and/or caregiver. NPMDS is subdivided by patient age (0-24 months, 2-11 years, and 12-18 years).

  From baseline until follow-up (up to 24 months/early termination)

Secondary Outcomes (3)

• Change from baseline in Head Control Scale

  From baseline until follow-up (up to 24 months/early termination)

• Change from baseline in Gross Motor Function Measure (GMFM)

  From baseline until follow-up (up to 24 months/early termination)

• Change from baseline in Vineland Adaptive Behavior Scales Third Edition (Vineland-3)

  From baseline until follow-up (up to 24 months/early termination)

Study Arms (1)

Prospective cohort

Parents/caregivers of participants with SURF1 deficiency will provide information regarding diagnosis, onset of symptoms, and course of the disease and participants will be assessed prospectively over time using standardized qualitative and quantitative tools.

Other: None (Observational study)

Interventions

None (Observational study) OTHER

No investigational intervention, marketed product, or placebo will be administered to study participants in this study.

Also known as: Observational study

Prospective cohort

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Participants with SURF1 deficiency

You may qualify if:

• Informed consent/assent provided by the participant based on participant's cognitive ability as determined by Principal Investigator (PI), and/or participant's parent(s) or legally authorized representative(s).
• Participant is \< 18 years of age at time of initial informed consent.
• Displays one or more clinical features consistent with SURF1 deficiency, including but not limited to, hypotonia, motor delays, motor regression, failure to thrive, language delays, and/or language regression.
• Genetic diagnosis of SURF1 pathogenic or likely pathogenic mutation(s), either compound heterozygous or homozygous mutations. If variants are of uncertain significance (VUS), verify documentation of cytochrome c oxidase (COX) activity deficiency.
• Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.

You may not qualify if:

• Any known genetic abnormality (other than SURF1 deficiency), including but not limited to a chromosomal aberration or molecularly known or clinically suspected progressive neurometabolic disorder or dementia, that confounds the clinical phenotype.
• The presence of significant non-SURF1-related central nervous system (CNS) impairment/behavioral disturbances that would confound the scientific rigor or interpretation of results of the study or a known history of perinatal asphyxia, kernicterus, carbon monoxide or methanol intoxication.
• Current participation in a therapeutic study or participation in a therapeutic study within 30 days prior to enrollment in the present study.
• Prior or current treatment with gene or stem cell therapy.
• Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures.

Sponsors & Collaborators

• Taysha Gene Therapies, Inc.: lead

Study Sites (1)

UTSW Medical Center at Dallas

Dallas, Texas, 75390, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Serum/Plasma/Cerebrospinal fluid (CSF) biobanking

MeSH Terms

Conditions

Leigh Disease; Neurodegenerative Diseases

Interventions

Observation

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pyruvate Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Mitochondrial Diseases

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Study Design

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

Study Record Dates

• First Submitted: March 3, 2022
• First Posted: March 14, 2022
• Study Start: May 4, 2022
• Primary Completion: May 4, 2022
• Study Completion: May 4, 2022
• Last Updated: May 20, 2022

Record last verified: 2022-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)