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Trial record 4 of 11 for:    ldrtc
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The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05705674
Recruitment Status : Not yet recruiting
First Posted : January 31, 2023
Last Update Posted : January 31, 2023
Sponsor:
Collaborator:
Team Sanfilippo
Information provided by (Responsible Party):
Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Study Description
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Brief Summary:
The natural history study of patients with Sanfilippo disease(s) (MPS3)

Condition or disease
Sanfilippo Syndrome MPS3

Detailed Description:
This is a natural history study of patients with Sanfilippo Disease (MPS3). Patients will be followed over the course of 6 months in which they have blood and urine collected, hearing assessment, complete questionnaires and are evaluated by the Principal Investigator.
Study Design
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Study Type : Observational
Estimated Enrollment : 6 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)
Estimated Study Start Date : February 2023
Estimated Primary Completion Date : December 2024
Estimated Study Completion Date : December 2024

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. To characterize the disease natural history in patients with MPS3. [ Time Frame: 6 months ]
    To characterize the disease natural history in patients with MPS3.


Biospecimen Retention:   Samples With DNA
Serum and plasma

Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
All patients with MPS3 who meet the criteria above can be enrolled.
Criteria

Inclusion Criteria:

  1. IRB - approved informed consent/assent signed by subject and/or parent(s) or legal guardian(s).
  2. Genetically confirmed diagnosis of MPS III disease Genomic DNA analysis demonstrating a homozygous or compound heterozygous pathogenic variants in SGSH (type A), NAGLU (type B), HGSNAT (type C), or N- acetylglucosamine-6-sulfatase GNS (type D).
  3. Male or female; five years of age and older
  4. Negative urine pregnancy test at screening for female subjects with child-bearing potential

Exclusion Criteria:

  1. Unwilling or unable to follow protocol requirements as per principal investigator
  2. Any serious or chronic medical illness, including significant cardiac or severe debilitating pulmonary disease as determined by the investigator.
  3. Any medical condition that, in the opinion of the PI, would place a subject at undue risk
  4. Inability to cooperate for clinical and safety data collection
  5. Use of genistein or Miglustat within one week of the study
  6. Evidence of hepatitis B or hepatitis C infection upon serological testing at screening
  7. Currently participating in another interventional drug trial or has completed an interventional trial less than one month prior to the screening visit
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05705674


Contacts
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Contact: Arooj Agha 571-732-4575 aagha@ldrtc.org
Contact: Lauren Noll 571-732-4655 lnoll@ldrtc.org

Locations
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United States, Virginia
LDRTC
Fairfax, Virginia, United States, 22030
Sponsors and Collaborators
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Team Sanfilippo
More Information
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Responsible Party: Lysosomal and Rare Disorders Research and Treatment Center, Inc.
ClinicalTrials.gov Identifier: NCT05705674    
Other Study ID Numbers: 22-LDRTC-01
First Posted: January 31, 2023    Key Record Dates
Last Update Posted: January 31, 2023
Last Verified: January 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: No plan to make IPD available to other researchers.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Mucopolysaccharidosis III
Mucopolysaccharidoses
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
 Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases