San Francisco, CANCT06669949Now EnrollingIRB Ready

Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) Clinical Trial in San Francisco, CA

Access cutting-edge sphingosine phosphate lyase insufficiency syndrome (splis) treatment through this clinical trial at a research site in San Francisco. Study-provided care at no cost to qualified participants.

Sponsored by University of California, San Francisco

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Expert Care in San Francisco

Access sphingosine phosphate lyase insufficiency syndrome (splis) specialists at no cost

IRB Approved

This study follows strict safety protocols and ethical guidelines

No-Cost Care

All study-related sphingosine phosphate lyase insufficiency syndrome (splis) treatment provided free

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Check if you qualify for this sphingosine phosphate lyase insufficiency syndrome (splis) clinical trial in San Francisco, CA

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Why Participate?

  • No-Cost Study Care

  • Local to San Francisco

    Convenient for CA residents

  • Cutting-Edge Treatment

    Access to innovative therapies

  • Expert Medical Care

    Close monitoring by specialists

  • Possible Compensation*

    For time and travel

*Compensation varies by study. Confirm details with coordinator.

Simple Process

  1. 1Submit this form
  2. 2Phone screening
  3. 3Visit San Francisco site if eligible
  4. 4Begin participation

About This Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) Study in San Francisco

This is a prospective longitudinal natural history study with a retrospective cross-sectional arm aimed at determining the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS), a recently recognized inborn error of metabolism. The central hypothesis is that age of onset, other disease features, and disease biomarkers will be predictive of quality of life (QOL) and survival in SPLIS patients.

Sponsor: University of California, San Francisco

Who Can Participate

Inclusion Criteria

Potential subjects fulfilling the following criteria will be eligible to participate in this study:
Living or deceased patients diagnosed with SPLIS based on
harbor biallelic pathogenic variant (PV) or likely PV (LPV) in the SGPL1 gene, regardless of phenotype OR
harbor nucleotide changes in both SGPL1 alleles, regardless of variant classification, if they also have one of the following: b1) exhibit at least 1 phenotypic feature of SPLIS (nephrosis, endocrine defect, ichthyosis, neuropathy, male gonadal dysgenesis, lymphopenia) b2) have evidence from biochemical or molecular data (such as enzyme expression or activity in skin fibroblasts) that indicate a possible loss of function in the S1P lyase (SPL) protein b3) are a sibling of a subject with nucleotide changes in both alleles of SGPL1 and at least 1 phenotypic feature of SPLIS
Informed consent and (if appropriate) assent for living subjects. For deceased subjects, the Principal Investigator (PI) will be responsible for ensuring that all requirements have been met in regard to the relevant local laws and regulations. Parents of participating SPLIS patients may be included as controls.

Exclusion Criteria

Subjects with SPLIS (or their parents) who are currently using or have a history of using an investigational agent in the last 30 days with the exception of off-label use of medications will be excluded from the study

Not sure if you qualify? Submit your interest and a study coordinator will help determine your eligibility.

Frequently Asked Questions

Q:Is this study available in San Francisco?

Yes, this clinical trial (NCT06669949) has an active research site in San Francisco, CA that is currently enrolling participants.

Q:Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.

Q:Will I be compensated?

Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.

Q:Can I leave the trial if I change my mind?

Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.

Still have questions? Our study coordinators are here to help.

Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) Treatment Options in San Francisco, CA

If you're searching for sphingosine phosphate lyase insufficiency syndrome (splis) treatment options in San Francisco, CA, this clinical trial (NCT06669949) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.

Our San Francisco research site is actively enrolling participants for this clinical trial. You'll receive care from experienced sphingosine phosphate lyase insufficiency syndrome (splis) specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.

Looking for more options? Browse all sphingosine phosphate lyase insufficiency syndrome (splis) clinical trials near you to find additional studies recruiting in your area.

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