Observing the natural history of Sanfilippo disease
The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)
This study looks at how Sanfilippo disease affects patients over time by collecting health information and samples to better understand the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 6 (estimated) |
| Ages | 5 Years to 99 Years |
| Sex | All |
| Sponsor | Lysosomal and Rare Disorders Research and Treatment Center, Inc. Academic / other |
| Locations | 1 site (Fairfax, Virginia) |
| Trial ID | NCT05705674 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on the natural history of patients diagnosed with Sanfilippo Disease (MPS3). Over a period of six months, participants will undergo various assessments including blood and urine collection, hearing evaluations, and completion of questionnaires. The study aims to gather comprehensive data on the progression and characteristics of the disease as evaluated by the Principal Investigator.
Who should consider this trial
Good fit: Ideal candidates include individuals aged five years and older with a genetically confirmed diagnosis of MPS3.
Not a fit: Patients with serious chronic medical conditions or those unable to comply with the study protocol may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Sanfilippo disease, leading to improved management and treatment strategies for affected patients.
How similar studies have performed: While this study is observational and focuses on natural history, similar studies have contributed valuable insights into rare diseases, suggesting potential for meaningful findings.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Fairfax, Virginia
- Ldrtc — Fairfax, Virginia, United States (Recruiting)
Study contacts
- Study coordinator: Arooj Agha
- Email: aagha@ldrtc.org
- Phone: 571-732-4575
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.