Peripheral Neuropathy Trial, Recruiting (NCT06669949)

Peripheral Neuropathy Trial, Recruiting NCT06669949 Sponsor: University of California, San Francisco Condition: Peripheral Neuropathy

Printed from Voxsanity (voxsanity.com.au) — NCT06669949 — Data sourced from ClinicalTrials.gov. Verify directly with the trial site before attending. Not medical advice.

Back to Peripheral Neuropathy

Who may be able to join

AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI

Who might be able to join this trial:

People (living or deceased) who have been diagnosed with a condition called SPLIS, confirmed by genetic testing showing changes in a gene called SGPL1
People who have changes in both copies of the SGPL1 gene and also show at least one sign of SPLIS, such as kidney disease (nephrosis), a hormonal (endocrine) problem, a skin condition (ichthyosis), nerve problems (neuropathy), male reproductive development issues, or a low white blood cell count (lymphopenia)
People who have changes in both copies of the SGPL1 gene and have lab or biological test results suggesting the SGPL1 gene may not be working properly
Siblings of someone already confirmed to have SPLIS, if the sibling also has changes in both copies of the SGPL1 gene and at least one sign of SPLIS
People can be enrolled regardless of whether they are currently receiving treatments such as vitamin B6 supplements, dialysis, or have had a kidney transplant
Data from people who have passed away with a confirmed SPLIS diagnosis may also be included in the study
Parents of participating SPLIS patients may be included as comparison (control) participants

Who may not be able to join:

People with SPLIS (or their parents) who are currently using, or have used in the last 30 days, an experimental or investigational medicine as part of another study — though the use of medicines prescribed in an off-label way (used for a purpose other than what they were originally approved for) is not a reason for exclusion

Important: Always verify eligibility with the trial site directly before applying.

Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.

This is a simplified plain English summary of the eligibility criteria. Full criteria are set by the trial investigators and may include additional requirements not shown here. Never self-exclude from a trial based on this summary. Contact the trial site directly to confirm your eligibility.

Last synced 26 July 2026

This study is not part of the standard drug-approval phase pathway (for example an observational, device, behavioural, or registry study), so a phase success rate does not apply.

Contact this trial

Principal Investigator: Julie D Saba, MD, PhD, University of California, San Francisco

Phone: 510-414-6317

Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.

GP referral letter

Print a one-page summary to share with your doctor.

Voxsanity

Clinical trials and treatments, explained plainly · voxsanity.com.au

Date:

To: My Doctor

Re: Clinical trial enquiry

I am writing to enquire about the following clinical trial which may be relevant to my care:

Trial: NCT06669949

Sponsor: University of California, San Francisco

Phase: Not Applicable

Status: Recruiting

Condition: Peripheral Neuropathy

Trial contact: 510-414-6317

More information: https://clinicaltrials.gov/study/NCT06669949

Eligibility summary (AI generated)

Written by an AI model from ClinicalTrials.gov eligibility criteria and checked on a sample basis. Please confirm against the original criteria.

Who might be able to join this trial:

People (living or deceased) who have been diagnosed with a condition called SPLIS, confirmed by genetic testing showing changes in a gene called SGPL1
People who have changes in both copies of the SGPL1 gene and also show at least one sign of SPLIS, such as kidney disease (nephrosis), a hormonal (endocrine) problem, a skin condition (ichthyosis), nerve problems (neuropathy), male reproductive development issues, or a low white blood cell count (lymphopenia)
People who have changes in both copies of the SGPL1 gene and have lab or biological test results suggesting the SGPL1 gene may not be working properly
Siblings of someone already confirmed to have SPLIS, if the sibling also has changes in both copies of the SGPL1 gene and at least one sign of SPLIS
People can be enrolled regardless of whether they are currently receiving treatments such as vitamin B6 supplements, dialysis, or have had a kidney transplant
Data from people who have passed away with a confirmed SPLIS diagnosis may also be included in the study
Parents of participating SPLIS patients may be included as comparison (control) participants

Who may not be able to join:

People with SPLIS (or their parents) who are currently using, or have used in the last 30 days, an experimental or investigational medicine as part of another study — though the use of medicines prescribed in an off-label way (used for a purpose other than what they were originally approved for) is not a reason for exclusion

Important: Always verify eligibility with the trial site directly before applying.

Access in Australia: A treatment being studied in a clinical trial is generally not yet listed on the PBS. Where a medicine is not approved or not available through a trial, the TGA Special Access Scheme may allow a doctor to access unapproved therapeutic goods for individual patients. See voxsanity.com.au/sas-navigator/ for a plain English explainer.

This information was sourced from ClinicalTrials.gov via Voxsanity (data last synced 26 July 2026). It is not medical advice. Please verify the trial's current status directly with the trial site before acting.

Trial details

Status

Recruiting

Phase

Not Applicable

Sponsor

University of California, San Francisco

Registry

ClinicalTrials.gov

Start date

22 April 2025

Est. completion

31 December 2030

Where this trial is recruiting

🇺🇸 United States

Primary endpoints

Survival; Height; Weight; Head circumference; Triceps skin fold measurement; Subscapular skin fold measurement; Upper arm muscle circumference; Sitting height; Knee height; Tibial length; Nutritional intake assessment; Retinal condition; Skin condition; Charcot Marie Tooth Neuropathy Score (CMTNS); Abdominal ultrasound; Audiology testing; Cognitive function; Tanner stage; Proteinuria; Serum creatinine; Thyroid function; Cortisol; Adrenocorticotropin hormone (ACTH); Renin; Testosterone; Estradiol; Anti-mullerian hormone (AMH); Inhibin B; Follicle stimulating hormone (FSH); Luteinizing hormone (...

Can't join this trial?

Expanded access pathways

If this trial is not available to you, other access pathways may exist. In Australia, the TGA Special Access Scheme allows access to unapproved therapeutic goods for individual patients.

TGA Special Access Scheme information

Find other recruiting trials on ClinicalTrials.gov

Data last synced from ClinicalTrials.gov: 26 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.

Trial recruitment status can change without notice between our nightly data updates. Always contact the trial site directly to confirm current recruitment status before making any decisions or travel arrangements.

View original record on ClinicalTrials.gov