Juvenile-onset systemic sclerosis (jSSc) is a rare (two in 100,000) autoimmune disorder in children that causes thickness and tightening of the skin, decreased joint motion, and discoloration with coolness of the fingers and hands (Raynaud’s phenomenon). Other internal organs can become involved, including the muscle, heart, lungs, and gastrointestinal tract. These children need specialized medical treatment and physical and occupational therapy.
The Juvenile Systemic Scleroderma Center at UPMC Children’s Hospital of Pittsburgh:
- Can help children manage and control this condition as a team so they can live a more active and pain-free life
- Is the only center in the U.S. dedicated to diagnosing and treating children with this rare disorder
- Is a multidisciplinary center with many services available to help better evaluate patients’ scleroderma in the different organs
- Is one of the few centers in the nation performing stem cell transplant therapy for certain patients with jSSc
- Has a dedicated research program for jSSc.
Stem cell transplant therapy for jSSc
Our center at UPMC Children’s Hospital has developed reduced intensity conditioning protocols for both pediatric and adult onset systemic scleroderma using CD34-selected peripheral blood autologous stem cell therapy (ASCT), including our Immune Transplant and Therapy Center (ITTC) protocol (ClinicalTrials. gov Identifier: NCT03630211). We report initial safety and clinical response of three jSSc patients who received ASCT at our center with comorbidities too advanced even for our “ITTC” trial.
Patients with severe and progressive disease referred to our center were evaluated by Kathryn Torok, MD, pediatric rheumatologist and medical director of the Juvenile Systemic Scleroderma Center, and referred to Blood and Marrow Transplantation and Cellular Therapies (BMTCT) if deemed to be refractory to standard clinical care. A dedicated multi-disciplinary team comprising Rheumatology, BMTCT, Cardiology, Pulmonology, and Gastroenterology evaluated the patients to determine their baseline status and eligibility for an existing protocol (ITTC) or an Investigational New Drug (IND) application if more suitable. After Institutional Review Board approval and consent, patients underwent ASCT with standardized safety, clinical outcome, and patient-reported measures collected at baseline (pre-ASCT), 6, and 12 months post-ASCT.
All three patients tolerated the ASCT protocol well overall. There were no serious infections, and no serious organ dysfunction. There was one safety concern regarding a drug reaction in two patients; both recovered with intervention.
Improvement was seen across several outcome measures, both measured by the clinician and by the patient. These included:
- Skin thickness
- Musculoskeletal
– Range of motion small to large joints
– General flexibility
– Strength
– Oral aperture
- Gastrointestinal
– Improved lower esophageal pressure
– Less esophageal acid exposure
- Visual analog scales – pain, hand function, Raynaud’s, pulmonary
- GIT (scleroderma GI tract instrument)
- C-HAQ (global daily functioning scale)
One patient said: “It has helped tremendously for my lungs. I’m now able to do
things I couldn’t have done before like riding a bike without gasping for air.”
Conclusions
Preliminary data supports the safety and efficacy of autologous stem cell therapy with CD34-selected peripheral blood stem cells in juvenile onset systemic sclerosis at our center. Future studies in stem cell transplant in systemic sclerosis should expand to include:
- Enrollment of children, teens, and young adults
- Limited cutaneous skin disease
- Overlap with myositis
- Consider patients with longer-standing disease and more severe disease
- To learn more, contact International Services at UPMC Children’s by phone at
+1-412-692-3000 or via e-mail at: international@chp.edu. Our experts will respond to your questions within three business days.
