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Active clinical trials for "Mucopolysaccharidosis III"

Results 31-40 of 43

Natural History Observational Study of MPS IIIa in SMC

Sanfilippo Syndrome A

To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA), and identify potential endpoints for future treatment trials.

Not yet recruiting3 enrollment criteria

A Long-term Follow-up Study of Patients With MPS IIIB Treated With ABO-101

Mucopolysaccharidosis III-B

This is a multicenter, non-interventional, long-term follow-up (LTFU) study in participants who have been treated with ABO-101 in a prior trial. Eligible participants will undergo clinical evaluations at prespecified intervals for 3 years from the last visit in the prior clinical trial (up to 5 years post-treatment).

Terminated4 enrollment criteria

Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)...

Mucopolysaccharidosis Type IIIA

MPS IIIA is predominantly a central nervous system disease causing cognitive disability, progressive loss of acquired skills, behavioral and sleep disturbance. LYS-SAF302 is a gene therapy which is intended to deliver a functional copy of the SGSH gene to the brain. This is a phase 2-3 study to assess the efficacy in improving or stabilizing the neurodevelopmental state of MPS IIIA patients.

Unknown status8 enrollment criteria

Natural History Study to Characterise the Course of Disease Progression in Participants With Mucopolysaccharidosis...

MPS IIIB (Sanfilippo B Syndrome)

The objectives of this study are to describe the clinical and biochemical characteristics and course of disease progression in participants with Mucopolysaccharidosis type IIIB (MPS IIIB)

Terminated23 enrollment criteria

A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)

Sanfilippo Syndrome Type A

The purpose is to evaluate the course of disease progression in MPS IIIA patients who are untreated to identify potential surrogate endpoints that may be utilized in future ERT trials of MPS IIIA via defined assessments including standardized clinical, biochemical, neurocognitive, behavioral, developmental, and imaging measures.

Completed21 enrollment criteria

Neurobehavioral Phenotypes in MPS III

Sanfilippo Syndrome Type ASanfilippo Syndrome Type B1 more

Hypothesis #1: Factor analysis of the revised Sanfilippo Behavior Rating Scale (SBRS) will identify a group of externalizing behaviors and a group of Klüver-Bucy syndrome-like behaviors as two different factors that are at least partially independent. Hypothesis #2a: Children with MPS III will show more hyperlocomotion, fearlessness, asociality and noncompliance than children of similar cognitive ability with MPS I. Hypothesis #2b: These behaviors will become more frequent and/or intensify over time, consistent with the Cleary and Wraith (1993) model. Quantifying them will provide a more empirical framework for staging disease progression. Hypothesis #3: Brain volumetric analysis and diffusion-tensor imaging will reveal abnormalities of frontal and temporal lobe structures that will correlate with externalizing and Klüver-Bucy syndrome-like behaviors, respectively. Hypothesis #4. Loss of cognitive and language function as measures of neurologic decline will directly precede or co-vary with behavioral decline. The primary objective of this study is to identify the behavioral phenotype and its neural basis in MPS III (Sanfilippo syndrome). Is the behavioral phenotype similar to that of Klüver-Bucy syndrome, and is there evidence for amygdala abnormality? The secondary objective of this research study is to develop easily administered, sensitive and specific neurobehavioral and neuroimaging markers to characterize the behavioral phenotype(s) of MPS III; to track their progression; and to delineate their neural substrates. Such markers are critical for identifying the stage of disease for each patient, and to measure treatment outcome. Although we know that severe cognitive decline is one essential characteristic of MPS III, the other highly salient characteristic is a range of abnormal and disruptive behaviors that can include, but go well beyond, childhood noncompliance and oppositionality. These behaviors set Sanfilippo syndrome apart from the other MPS disorders. They cause major disruption in the child's familial, school, and community environments. Delineating these behavioral abnormalities will help in better understanding the neurological disease.

Completed3 enrollment criteria

Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome...

Sanfilippo Syndrome Type B

The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future treatment trials of MPS IIIB using predefined assessments including standardized clinical, biochemical, neurocognitive, developmental, and imaging measures.

Completed22 enrollment criteria

Natural History Studies of Mucopolysaccharidosis III

Mucopolysaccharidosis Type IIIAMucopolysaccharidosis Type IIIB

The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical trials.

Completed8 enrollment criteria

A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

MPS IIIB (Sanfilippo Syndrome)

The objective is to perform a retrospective chart review to generate data to evaluate the clinical characteristics and course of disease progression of MPS IIIB.

Completed6 enrollment criteria

Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool...

Mucopolysaccharidosis Type I (MPS I)Mucopolysaccharidosis Type II (MPS II)3 more

Hypothesis: Children diagnosed with a lysosomal disease will exhibit developmental, adaptive, and behavioral strengths and difficulties depending upon 1) biomedical risk factors (i.e. the specific genetic disorder responsible for the illness); 2) available modifying interventions, whether medical or behavioral; and 3) social risks in the children's families, neighborhoods and communities. A valid and reliable telephone-based surveillance system can successfully collect the data required to elucidate these developmental, adaptive and behavioral strengths and difficulties.

Completed2 enrollment criteria
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