RECRUITING

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

Conditions

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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

Official Title

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

Quick Facts

Study Start:2023-05-01

Study Completion:2024-12

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT05705674

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.

Ages Eligible for Study:5 Years to 99 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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

Inclusion Criteria

Exclusion 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

Contacts and Locations

Study Contact

Arooj Agha

CONTACT

571-732-4575

aagha@ldrtc.org

Lauren Noll

CONTACT

571-732-4655

lnoll@ldrtc.org

Study Locations (Sites)

LDRTC

Fairfax, Virginia, 22030

United States

Collaborators and Investigators

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2023-05-01

Study Completion Date2024-12

Study Record Updates

Study Start Date2023-05-01

Study Completion Date2024-12

Terms related to this study

Additional Relevant MeSH Terms

Sanfilippo Syndrome
MPS3