A Study of the Natural Course of SURF1 Deficiency

Leigh Syndrome Clinical Trial

Official title:

A Natural History Study of Surfeit Locus Protein 1 (SURF1)-Associated Leigh Syndrome

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT05277363
• Other study ID #: TSHA-104-RG-001
• Status: Withdrawn
• Start date: May 4, 2022
• Est. completion date: May 4, 2022

Study information

• Verified date: May 2022
• Source: Taysha Gene Therapies, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

Participant eligibility for the study will be determined during a screening period lasting up to 45 days. In-clinic follow visits will occur over several days every 6 months for 2 years from baseline. Thereafter, annual telephone follow-up contact will be conducted for 2 additional years. Thus, the active study duration for each participant will be up to approximately 2 years and the total duration per participant will be approximately 4 years.

The study will be conducted in the United States and select sites outside the United States based on incidence data.

Recruitment information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: May 4, 2022
• Est. primary completion date: May 4, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 18 Years

Eligibility

Inclusion Criteria:

• 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.

Exclusion Criteria:

• 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.

Related Conditions & MeSH terms

• Leigh Disease
• Leigh Syndrome
• Syndrome

Intervention

Other:
• None (Observational study)
No investigational intervention, marketed product, or placebo will be administered to study participants in this study.

Locations

Country	Name	City	State
United States	UTSW Medical Center at Dallas	Dallas	Texas

Sponsors (1)

Lead Sponsor	Collaborator
Taysha Gene Therapies, Inc.

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Change from baseline in Head Control Scale	Head control will be evaluated using the Head Control Scale (which ranges 0 to 16, with 0 representing no function and 4 representing normal function in each of the 4 domains).	From baseline until follow-up (up to 24 months/early termination)
Secondary	Change from baseline in Gross Motor Function Measure (GMFM)	The Gross Motor Function Measure will measure the child's capacity for gross motor function. Scores are based on a 0 to 100% scale with higher percentage indicating better function.	From baseline until follow-up (up to 24 months/early termination)
Secondary	Change from baseline in Vineland Adaptive Behavior Scales Third Edition (Vineland-3)	Vineland-3 forms aid in diagnosing and classifying intellectual and developmental disabilities and other disorders. The individual's overall adaptive functioning is described by a total score and three subdomain scores. The scores ranges from 20 to 140, with higher numbers indicating better performance.	From baseline until follow-up (up to 24 months/early termination)