Sanfilippo SyndromeNCT05705674
The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)
An observational study of Sanfilippo Syndrome and MPS3, run by Lysosomal and Rare Disorders Research and Treatment Center, Inc. at 1 site in United States.
Trial summary
The natural history study of patients with Sanfilippo disease(s) (MPS3) Read more about this study
- Who is it for?
- Ages 5 to 99 years
- Conditions the study is for
- Sanfilippo Syndrome, MPS3
- How many people
- 6 participants
- Where
- 1 siteUnited States
- Study dates
- 1 May 2023to Dec 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All patients with MPS3 who meet the criteria above can be enrolled.
Who may be able to join
- IRB - approved informed consent/assent signed by subject and/or parent(s) or legal guardian(s).
- 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).
- Male or female; five years of age and older
- Negative urine pregnancy test at screening for female subjects with child-bearing potential
Who cannot join
- Unwilling or unable to follow protocol requirements as per principal investigator
- Any serious or chronic medical illness, including significant cardiac or severe debilitating pulmonary disease as determined by the investigator.
- Any medical condition that, in the opinion of the PI, would place a subject at undue risk
- Inability to cooperate for clinical and safety data collection
- Use of genistein or Miglustat within one week of the study
- Evidence of hepatitis B or hepatitis C infection upon serological testing at screening
- Currently participating in another interventional drug trial or has completed an interventional trial less than one month prior to the screening visit
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
LDRTC
Fairfax, Virginia, 22030
Ozlem Goker-Alpan, MD, 703-261-6220, ogokar-alpan@ldrtc.org
Lauren Noll, 571-732-4655, lnoll@ldrtc.org
About this study
The natural history study of patients with Sanfilippo disease(s) (MPS3)
Read the 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.
- Conditions
- Sanfilippo Syndrome, MPS3
- Medical subject headings
- Mucopolysaccharidosis III
What is being measured
The primary outcome is the main question the study is designed to answer.
To characterize the disease natural history in patients with MPS3.
To characterize the disease natural history in patients with MPS3.
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Jan 2023
- Study start1 May 2023
- Primary completionDec 2024 (estimated)
- Study completionDec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sanfilippo SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
- Sponsor type
- University, hospital or other
- Collaborators
- Team Sanfilippo
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05705674
- Sponsor's protocol ID
- 22-LDRTC-01
- Status last verified
- Mar 2024
- First submitted
- 20 Jan 2023
- Last updated
- 12 Mar 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: No plan to make IPD available to other researchers.
Study at a glance
From the registry record, last updated by the sponsor on 12 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)
- ClinicalTrials.gov ID
- NCT05705674
- Acronym / sponsor ID
- 22-LDRTC-01
- Conditions
- Sanfilippo Syndrome, MPS3
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.University, hospital or other
- Collaborators
- Team Sanfilippo
- Study start
- 1 May 2023 (actual)
- Primary completion
- Dec 2024 (estimated)
- Study completion
- Dec 2024 (estimated)
- First posted
- 31 Jan 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The natural history study of patients with Sanfilippo disease(s) (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
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 5 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients with MPS3 who meet the criteria above can be enrolled.
Key inclusion criteria (4 listed)
- IRB - approved informed consent/assent signed by subject and/or parent(s) or legal guardian(s).
- 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).
- Male or female; five years of age and older
- Negative urine pregnancy test at screening for female subjects with child-bearing potential
Key exclusion criteria (7 listed)
- Unwilling or unable to follow protocol requirements as per principal investigator
- Any serious or chronic medical illness, including significant cardiac or severe debilitating pulmonary disease as determined by the investigator.
- Any medical condition that, in the opinion of the PI, would place a subject at undue risk
- Inability to cooperate for clinical and safety data collection
- Use of genistein or Miglustat within one week of the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To characterize the disease natural history in patients with MPS3.
Time frame: 6 months
To characterize the disease natural history in patients with MPS3.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Mar 2024.
- Individual participant dataSharing planned: No. No plan to make IPD available to other researchers.
Related trials for Sanfilippo Syndrome
RecruitingPhase 1/2
Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)
Mucopolysaccharidosis Type IIIA
Not yet recruitingObservational study
MPS IIIA Disease Monitoring Program
MPS IIIA, Sanfilippo Syndrome
Active, not recruitingPhase 1/2
An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis III-B
RecruitingPhase 2/3
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
MPS IIIA, Sanfilippo Syndrome
Not yet recruitingPhase 3
Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B)
MPS IIIB
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sanfilippo Syndrome and MPS3, run by Lysosomal and Rare Disorders Research and Treatment Center, Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 12 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Arooj Agha (571-732-4575, aagha@ldrtc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To characterize the disease natural history in patients with MPS3. (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Mar 2024.