A Natural History Study of Infantile Neuroaxonal Dystrophy

Neuroaxonal Dystrophy, Infantile Clinical Trial

Official title:

Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04027816
• Other study ID #: RT001-009
• Status: Completed
• Start date: June 17, 2019
• Est. completion date: February 28, 2022

Study information

• Verified date: April 2022
• Source: Retrotope, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This study is a longitudinal and prospective study of the natural history of infantile neuroaxonal dystrophy (INAD).

Description:

After obtaining informed consent, the study participants' relevant medical records will be collected and reviewed for this study. Next, a clinic visit will be scheduled with the patient's family and an observing MD/DO/MBBS from a sponsor site to confirm and clarify information in the medical records.

A baseline evaluation of clinical status will also be performed during this visit to serve as visit one in this longitudinal, prospective natural history study. Subsequent visits will take place every 6 months, for up to 24 months. Key components of this prospective study at each visit include a neurodevelopment exam tailored for INAD, application of the CHOP-INTEND neurodevelopment scale, the Hammersmith infant neurological examination and the modified Ashworth spasticity scale as well as collection of monthly parental severity scoring and monthly home videos of activities of daily living (ADLs).

Data from this study will be pooled and presented in aggregate, without identification of individual subjects.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 43
• Est. completion date: February 28, 2022
• Est. primary completion date: February 14, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Months to 10 Years

Eligibility

Inclusion Criteria:

• Male or female 18 months to 10 years of age

• Medical history consistent with the symptoms of classic INAD (onset of symptoms between the ages of 6 months and 3 years)

• Homozygous or compound heterozygous PLA2G6 variants

• Signed informed consent form (ICF) prior to entry into the registry

Exclusion Criteria:

• Diagnosis of atypical NAD (ANAD)

• Additional underlying diagnosis with features that overlap with INAD

• Unwilling or unable to allow medical record review

• Unwilling or unable to participate in serial assessments every 6 months (including deceased patients)

Related Conditions & MeSH terms

• Neuroaxonal Dystrophy, Infantile

Locations

Country	Name	City	State
China	Peking University First Hospital	Beijing
Egypt	National Research Centre	Cairo
India	EN1 Neuro Services Pvt. Ltd	Mumbai
Saudi Arabia	King Faisal Specialist Hospital and Research Center	Riyadh
Tunisia	National Institute of Neurology of Tunis	Tunis

Sponsors (1)

Lead Sponsor	Collaborator
Retrotope, Inc.

Countries where clinical trial is conducted

China,  Egypt,  India,  Saudi Arabia,  Tunisia, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	INAD Mortality	Overall analysis	1-2 years of follow-up is planned
Secondary	INAD Morbidity	Videotaped, structured neurological assessment	1-2 years of follow-up is planned
Secondary	INAD Morbidity	CHOP-INTEND Neuro-development Score	1-2 years of follow-up is planned
Secondary	INAD Morbidity	Hammersmith infant neurological examination	1-2 years of follow-up is planned
Secondary	INAD morbidity	Modified Ashworth spasticity scale	1-2 years of follow-up is planned