Safety and Preliminary Efficacy of ULSC in Facioscapulohumeral Muscular Dystrophy (FSHD)

NCT07086521 | Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: RES001-FSHD-01
• Study Type: interventional
• Target: 16
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this clinical trial is to learn about how an umbilical cord lining-derived stem cell product (ULSC) performs when treating Facioscapulohumeral Muscular Dystrophy (FSHD) 1 or 2. It will assess safety and preliminary efficacy in relieving symptoms of FSHD with ULSC administered in two intravenous (IV) doses of 100 million cells per dose. The main questions that this study plans to answer are:

• Is ULSC as safe as placebo (a look-alike saline without cells) in repeated IV infusion?
• Does ULSC improve symptoms of FSHD after each dose? Researchers will compare ULSC to placebo. Participants will:
• Have been diagnosed with FSHD of a Ricci clinical severity score 3 or more.
• Participate in this study for total duration of 21 months with 11 in-person visits and 5 virtual visits.
• Visit the clinic for a total of 4 IV infusions (250 mL) 3 months apart.
• Receive 2 doses of ULSC and 2 doses placebo in either of two sequences, as assigned: ULSC first (Day 0 and Month 3) and placebo second (Month 6 and Month 9), or placebo first (Day 0 and Month 3) and ULSC second (Month 6 and Month 9).
• Return for follow-up visits after each dose and up to 12 months after final dose.

Conditions

FSHD - Facioscapulohumeral Muscular Dystrophy

Outcome Measures

Primary Outcomes (1)

• Adverse Events (AE) and Serious Adverse Events (SAEs) that begin during or following treatment infusion.

  Cumulative listing of all AEs/SAEs with descriptive statistics for categorical variables and count variables with emphasis on All SAEs and AEs/SAEs suspected to be treatment infusion-related.

  7 days and 30 days after each infusion, as well as 6 months after the final dose for each period (Month 9 and Month 15).

Secondary Outcomes (10)

• Facioscapulohumeral Muscular Dystrophy Composite Outcome Measure (FSHD-COM)

  Baseline, 7, and 30 days after each infusion, as well as 6 months after the final dose for each period (Month 9 and Month 15).

• Muscle Fat Fraction (MFF)

  Baseline to Month 6 and Month 12.

• Lean Muscle Volume (LMV)

  Baseline to Month 6 and Month 12.

• Patient-Reported Quality of Life Outcome Assessed by PROMIS-57

  Between baseline and the 6-month timepoint (prior to third administration), and between the 6-month and 12-month timepoints.

• Patient-Reported Pain Assessed by Visual Analogue Scale (VAS 10)

  Between baseline and the 6-month timepoint (prior to third administration), and between the 6-month and 12-month timepoints.

Other Outcomes (5)

• Iowa Oral Performance Instrument (IOPI) Scores

  At each clinical visit from baseline and up to Month 12.

• Cardiopulmonary Exercise Testing (CPET) Assessment

  From baseline to Month 6 and Month 12.

• Tissue Oxygenation Assessed by Near-Infrared Spectroscopy (NIRS) during Cardiopulmonary Exercise Testing (CPET)

  From baseline to Month 6 and Month 12.

Study Arms (2)

Group 1: ULSC first; Placebo second

EXPERIMENTAL

Group 1 will receive a dose of 1 x 10\^8 ULSC through IV administration on Day 0 and Month 3 (two doses, 2 x 10\^8 ULSC in total from both doses). They will then cross-over to Placebo IV administrations on Month 6 and Month 9.

Biological: ULSC; Biological: Placebo

Group 2: Placebo first; ULSC second

EXPERIMENTAL

Group 2 will receive Placebo IV administrations on Day 0 and Month 3. They will then cross-over to receive 1 x 10\^8 ULSC IV administrations on Month 6 and Month 9 (2 x 10\^8 ULSC in total).

Biological: ULSC; Biological: Placebo

Interventions

ULSC BIOLOGICAL

Allogeneic umbilical-cord lining stem cells (ULSC) are cryopreserved and supplied in vials to be thawed and prepared for infusion at point of use. Each dose of 1 x 10\^8 ULSC will be added to into 250 sterile saline for infusion (total volume of 260 mL volume).

Group 1: ULSC first; Placebo second; Group 2: Placebo first; ULSC second

Placebo BIOLOGICAL

The Placebo will be 250 ml of sterile saline for IV administration.

Group 1: ULSC first; Placebo second; Group 2: Placebo first; ULSC second

Eligibility Criteria

• Age: 15 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Participants will be ≥15 years old.
• Diagnosis of genetically confirmed FHSD 1 or FSHD 2.
• Participants should have a Ricci clinical severity score of ≥3 (range is out of 0-10), at screening, and must be independently ambulatory at the time of the study.
• Participant will have the ability to comply with the requirements of the study, including MRI.
• All participants of reproductive age/capacity will be required to use adequate contraception, defined as two forms of highly effective contraceptives, with any partners during the study period and for at least three months beyond the study period for safety.
• Participant will have the ability to understand and provide written informed consent.
• For those participants who are on drug(s) or supplements that may affect muscle function, as determined by the Investigator, participants must be on a stable dose of that drug(s) or supplement for at least 3 months prior to the first dose of study drug and remain on that stable dose for the duration of the study. This includes the following drug category:
• o Immunomodulatory agents, including targeted biological therapies.
• Reduced upper arm strength as measured by the Performance of Upper Limb score of ≤5.
• Current and up-to-date immunizations.
• Total relative reachable surface area (RSA) (Q1-Q4) without weight in the dominant upper extremity assessed by reachable workspace (RWS) ≥ 0.2 and ≤ 0.7.
• No contraindications to MRI.
• Hematocrit of ≤ 50%
• Prostate-specific antigen ≤ 4.0 ng/mL (or ≤ 3.0 ng/mL if the participant has a first-degree relative with prostate cancer)
• Fasting blood glucose \<126 mg/dL

You may not qualify if:

• Hypersensitivity to study product components including history of hypersensitivity to dimethyl sulfoxide (DMSO).
• Active cancer or prior diagnosis of cancer within the past year (patients with basal and squamous cell cancer of skin will not be excluded).
• Any other condition that, in the judgment of the Investigator or Sponsor, would be a contraindication to enrollment, study product administration, or follow-up.
• Treatment with an investigational product within three months prior to randomization.
• Known active opportunistic or life-threatening infections including Human Immunodeficiency virus (HIV) and hepatitis B or C.
• Known active or inactive tuberculosis infection.
• Use of a product that putatively enhances muscle growth or activity on a chronic basis within 4 weeks before baseline
• Orally administered cytochrome P450 (CYP3A4) substrates and multidrug and toxin extrusion (MATE) and organic anion transporter (OAT)3 substrates are not permitted as concomitant therapy.
• Statin treatment initiation or significant adjustment to statin regimen within 3 months before baseline (stable, chronic statin use is permissible).
• Rapamycin treatment within 3 months before baseline.
• Evidence of an alternative diagnosis other than FSHD or a coexisting myopathy or dystrophy, based on prior muscle biopsy or other available investigations.
• Muscle biopsy within 30 days before baseline.
• A systolic blood pressure over 160 or a diastolic pressure over 100
• Heavy alcohol use (greater than 50g/day)
• Current testosterone or HGH use

Sponsors & Collaborators

• Restem, LLC.: lead
• Solve FSHD: collaborator

Study Sites (1)

Stanford Neuroscience Health Center

Palo Alto, California, 94304, United States

RECRUITING

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• John W Day, MD, PhD

  Stanford University, School of Medicine, Neuromuscular Research Division

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 3, 2025
• First Posted: July 25, 2025
• Study Start: December 1, 2025
• Primary Completion (Estimated): September 1, 2028
• Study Completion (Estimated): March 1, 2029
• Last Updated: December 8, 2025

Record last verified: 2025-12

Locations

US (1)