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Smartphone videos could unlock secrets of rare brain disease

NCT ID NCT07712003

Knowledge-focused Sponsor: Phoenix Nest Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting This study
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jul 17, 2026 · Last updated Jul 17, 2026

Summary

This study tracks how Sanfilippo syndrome type C, a rare genetic disorder that affects the brain, progresses over time. Caregivers of children and young adults aged 1 to 25 will record videos of daily activities and answer questionnaires using a smartphone app every six months for two years. No experimental treatment is given; the goal is to better understand the disease's natural course and develop tools to measure changes in abilities like speech, movement, and behavior.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could provide better ways to measure disease progression in Sanfilippo syndrome type C, helping future trials test treatments more effectively.
What could go wrong
This is an observational study with no treatment being tested, so it will not directly improve patient outcomes. The remote video approach may have limitations in capturing all aspects of the disease.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 35 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Nov 2026

An estimate. Start dates often move.

Expected to finish

Feb 2029

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

The study population will include participants with confirmed diagnosis of MPS IIIC. Participants will be recruited for approximately 3 months by patient organizations. The patient organizations will provide participants with details of the site coordinator at University of Texas Southwestern (UTSW).

Ages

1 year to 25 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * 1\. ≥1 year and ≤ 25 years of age 2. Confirmed diagnosis of MPS IIIC by all of the following: 1. Deficiency in the Hgsnat enzyme activity 2. Genetic analysis demonstrating homozygous or compound heterozygous, pathogenic, and/or potentially pathogenic variants in the Hgsnat gene 3. Signs/symptoms consistent with MPS IIIC, or individuals who have not presented with signs/symptoms of disease but meet inclusion criteria 2a and 2b 3. Electronic informed consent from legal representative(s) or caregivers and when possible, pediatric or adult assent from the participant 4. One of the legal representative(s) or the caregivers is willing to perform at home visits and assessments per instruction 5. Ability to comply with protocol requirements, in the opinion of the Investigator 6. Able to take food or liquid by mouth, able to walk with or without assistance 7. Participants must have health insurance 8. Caregiver willing and able to comply with protocol requirements, including performing at-home visits and assessments 9. Participants must have smart phone or tablet and reliable internet connection 10. Have one of these languages as their first language: English, Spanish, French, German or Portuguese Exclusion Criteria: 1. Have received prior gene therapy or ERT for the treatment of MPS IIIC ever or any other investigational drug for any reason within 30 days prior to the Screening visit (Visit 1) 2. Have concomitant illness or medical condition that, in the opinion of the Investigator, might compromise the participant's ability to comply with protocol requirements or the participant's wellbeing or safety, or the interpretability of the participant's clinical data

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Conditions

The condition(s) this trial relates to.

mucopolysaccharidosis Mucopolysaccharidosis III mucopolysaccharidosis type 3C

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Mucopolysaccharidosis (MPS) iiic Sanfilippo syndrome type C

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • UT Southwestern Children's Medical Center

    Dallas, Texas, 75235, United States

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