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

Description

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

Conditions

Sanfilippo Syndrome, MPS3

Study Overview

Study Details

Study overview

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

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

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

Condition
Sanfilippo Syndrome
Intervention / Treatment

-

Contacts and Locations

Fairfax

LDRTC, Fairfax, Virginia, United States, 22030

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • 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

Ages Eligible for Study

5 Years to 99 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Lysosomal and Rare Disorders Research and Treatment Center, Inc.,

Study Record Dates

2024-12