Batten Disease Clinical Trial
Official title:
Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
Verified date | February 2023 |
Source | Nationwide Children's Hospital |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
The investigators propose a study to assess cognitive and developmental outcomes of patients with CLN2 that are untreated and receiving cerliponase alfa. This study aims to validate standardized assessment measures to establish a standard of care. The secondary aim is to compare cognitive and developmental outcomes of patients with CLN2 that are receiving celiponase alfa to a natural history cohort. To accomplish specific aims of the study, the investigators will use a multi-method approach to collect retrospective data collected as standard of care and prospective developmental data in children with CLN2 disease. The investigators will use a combination of standardized measures that include direct assessment and parent report of child development. The investigators focus will also include multiple measures of development including language, motor, social-emotional, and adaptive functioning.
Status | Enrolling by invitation |
Enrollment | 30 |
Est. completion date | December 2023 |
Est. primary completion date | December 2023 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | Inclusion Criteria: - Patients that have a TPP1 enzyme deficiency - Patients have confirmed molecular diagnosis of pathogenic variants in the TPP1 gene - Patients that are enrolled in post-marketing studies will be allowed to enroll into the current study Exclusion Criteria: - Patients without a diagnosis of CLN2 and deficiency of TPP1 - Patients that are currently enrolled as part of a larger multi-center clinical trial |
Country | Name | City | State |
---|---|---|---|
United States | Nationwide Children's Hospital | Columbus | Ohio |
Lead Sponsor | Collaborator |
---|---|
Jessica Scherr | BioMarin Pharmaceutical |
United States,
Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschutter A; CLN2 Study Group. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24. — View Citation
Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17. — View Citation
Williams RE, Aberg L, Autti T, Goebel HH, Kohlschutter A, Lonnqvist T. Diagnosis of the neuronal ceroid lipofuscinoses: an update. Biochim Biophys Acta. 2006 Oct;1762(10):865-72. doi: 10.1016/j.bbadis.2006.07.001. Epub 2006 Jul 12. — View Citation
Wisniewski KE, Zhong N, Philippart M. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology. 2001 Aug 28;57(4):576-81. doi: 10.1212/wnl.57.4.576. — View Citation
Worgall S, Kekatpure MV, Heier L, Ballon D, Dyke JP, Shungu D, Mao X, Kosofsky B, Kaplitt MG, Souweidane MM, Sondhi D, Hackett NR, Hollmann C, Crystal RG. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. Neurology. 2007 Aug 7;69(6):521-35. doi: 10.1212/01.wnl.0000267885.47092.40. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Changes in Visual Reception Skills on the Mullen Scales of Early Learning | Changes in the Visual Reception subscale on the Mullen Scales of Early Learning will be assessed every 6 months. Visual reception skills are a measure of visual processing and problem solving. Raw scores will be used as a measure of visual receptions skills with scores ranging from 0 to 50. Higher scores indicate more visual reception skills. | up to 4 years | |
Primary | Changes in Fine Motor Skills on the Mullen Scales of Early Learning | Changes in the Fine Motor subscale on the Mullen Scales of Early Learning will be assessed every 6 months. Fine motor skills are a measure of fine motor coordination. Raw scores will be used as a measure of fine motor skills with scores ranging from 0 to 49. Higher scores indicate more fine motor skills. | up to 4 years | |
Primary | Changes in Receptive Language Skills on the Mullen Scales of Early Learning | Changes in the Receptive Language subscale on the Mullen Scales of Early Learning will be assessed every 6 months. Receptive language skills are a measure of the understanding of language. Raw scores will be used as a measure of receptive language skills with scores ranging from 0 to 48. Higher scores indicate more receptive language skills. | up to 4 years | |
Primary | Changes in Expressive Language Skills on the Mullen Scales of Early Learning | Changes in the Expressive Language subscale on the Mullen Scales of Early Learning will be assessed every 6 months. Expressive language skills are a measure of how an individual communicates. Raw scores will be used as a measure of expressive language skills with scores ranging from 0 to 50. Higher scores indicate more expressive language skills. | up to 4 years | |
Primary | Motor and Language Changes on the CLN2 disease rating scale | Change in motor and language subscales of the CLN2 disease rating scale. Ranges for scores are 0 to 6 with higher scores indicating more abilities in motor and language skill development. | up to 4 years | |
Secondary | Changes in Receptive Language Skills on the Preschool Language Scales | Changes in the Receptive Language subscale on the Preschool Language Scales will be assessed every 6 months. Receptive language skills are a measure of the understanding of language. Raw scores will be used as a measure of receptive language skills with scores ranging from 0 to 65. Higher scores indicate more receptive language skills. | up to 4 years | |
Secondary | Changes in Expressive Language Skills on the Preschool Language Scales | Changes in the Expressive Language subscale on the Preschool Language Scales will be assessed every 6 months. Expressive language skills are a measure of how an individual communicates. Raw scores will be used as a measure of expressive language skills with scores ranging from 0 to 67. Higher scores indicate more expressive language skills. | up to 4 years |
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