The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)

Last updated: March 7, 2024
Sponsor: Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

N/A

Clinical Study ID

NCT05705674
22-LDRTC-01
  • Ages 5-99
  • All Genders

Study Summary

The natural history study of patients with Sanfilippo disease(s) (MPS3)

Eligibility Criteria

Inclusion

Inclusion Criteria:

  1. IRB - approved informed consent/assent signed by subject and/or parent(s) or legalguardian(s).
  2. Genetically confirmed diagnosis of MPS III disease Genomic DNA analysis demonstratinga 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-bearingpotential

Exclusion

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 severedebilitating pulmonary disease as determined by the investigator.
  3. Any medical condition that, in the opinion of the PI, would place a subject at unduerisk
  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 aninterventional trial less than one month prior to the screening visit

Study Design

Total Participants: 6
Study Start date:
May 01, 2023
Estimated Completion Date:
December 31, 2024

Study 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.

Connect with a study center

  • LDRTC

    Fairfax, Virginia 22030
    United States

    Active - Recruiting

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