5Q SPINAL MUSCULAR ATROPHY · SMN1 GENE DELETION · SMA TYPES I–IV
A physician-led, laboratory-verified treatment programme designed to support motor neuron survival, preserve existing function and complement genetic therapies — tailored to the individual biology, SMA type, age and clinical profile of each patient.
Request Medical ConsultationAbout the Condition
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder caused by deletions or mutations in the SMN1 gene on chromosome 5q. This gene encodes Survival Motor Neuron (SMN) protein — a molecule essential for the maintenance and function of alpha motor neurons in the anterior horn of the spinal cord.
Without sufficient SMN protein, motor neurons progressively degenerate, leading to muscle weakness, atrophy, loss of motor milestones and — in severe forms — respiratory failure. SMA affects approximately 1 in 10,000 live births and is one of the leading genetic causes of infant mortality worldwide.
Gene therapies (onasemnogene abeparvovec / Zolgensma) and SMN-modulating drugs (nusinersen / Spinraza, risdiplam / Evrysdi) have fundamentally changed the treatment landscape. However, many patients — particularly those diagnosed late, those with established motor neuron loss, or those with suboptimal response to genetic therapy — continue to experience progressive functional decline. Our cellular therapy programme provides complementary biological support to these patients: targeting neuroinflammation, supporting remaining motor neurons and addressing the downstream consequences of chronic denervation.
SMA Type I (Werdnig-Hoffmann Disease)
The most severe form, with onset before 6 months of age. Infants never achieve independent sitting. Characterised by profound hypotonia, absent deep tendon reflexes and progressive respiratory insufficiency. Without intervention, survival beyond 2 years is rare. Gene therapy has improved outcomes significantly, but residual motor neuron loss often persists.
SMA Type II (Intermediate Form)
Onset typically between 6 and 18 months. Children achieve independent sitting but never walk unaided. Progressive scoliosis, joint contractures and respiratory compromise are common. Functional decline is gradual, with significant variability between patients. Many retain upper limb function into adulthood.
SMA Type III (Kugelberg-Welander Disease)
Onset after 18 months. Patients achieve independent walking but may lose ambulation over time. Proximal weakness predominates — difficulty climbing stairs, rising from the floor, running. Respiratory function is generally preserved. Disease course is highly variable, with some patients remaining ambulatory into their 40s and beyond.
SMA Type IV (Adult-Onset)
The mildest form, with onset after age 21. Characterised by slowly progressive proximal weakness, mild functional limitation and normal life expectancy. Respiratory involvement is rare. Often underdiagnosed due to subtle presentation. Patients typically remain ambulatory throughout life but may experience gradual decline in endurance and strength.
Our program is individually adapted for all subtypes and all stages of progression.
Important: Each patient is accepted into the programme only after a comprehensive individual medical assessment, which evaluates SMA type, SMN2 copy number where available, current motor function (HFMSE/RULM), respiratory status, skeletal deformities and prior treatment response.
We do not offer a cure for SMA or a replacement for gene therapy. Our programme is designed to provide complementary biological support — targeting the consequences of motor neuron loss and creating conditions that may help preserve remaining function.
Clinical Outcomes
The following data are derived from structured observational analysis of SMA patients treated at BioCells Medical between 2017 and 2025. All figures represent aggregated clinical registry outcomes with longitudinal follow-up. These are observational results — not randomised controlled trial data — and do not constitute a guarantee of therapeutic effect.
24
SMA patients treated since 2013
72%
measurable functional stabilisation on HFMSE at 3–6 months
+2.4 pts
average HFMSE score change at 6 months — vs. expected −1 pts natural decline
67%
sustained functional stability with average 2 years of follow-up
72%
showed improvement in one or more measured domains
70%
retained independence in basic activities of daily living (ADL) at 12 months
Motor development (seated trunk stability, postural endurance, upper limb reach and grasp, RULM improvement)
68%
Cognitive & communication (alertness, engagement, communication gains)
55%
Functional ADL (feeding and swallowing coordination, respiratory infection frequency, endurance)
60%
Quality of life (family engagement, daily routine stability, caregiver burden)
64%
3–8 weeks
Initial functional response
3–6 months
Clinically meaningful change
1–3 years onward
Long-term stability — continuous monitoring
Important: Outcomes depend on SMA type, SMN2 copy number, baseline motor function, age at treatment initiation, prior gene therapy response and individual biological factors. Individual results may vary significantly.
Find out if our program can help in your specific case. The initial medical consultation is free and carries no obligation.
Request ConsultationPatient Stories
“Luca was 14 months old. He had been on Spinraza for eight months but was still losing head control. After the programme in Warsaw his trunk tone improved. He could sit supported for longer without collapsing sideways. His respiratory infections dropped from monthly to once in four months. The decline stopped, and for our family that changed everything.”
Patient's mother
SMA Type I · Italy
Every case is assessed individually by our physician team. Request a consultation to discuss your specific situation with our physician team.
Request ConsultationPatient Cases
Documented treatment outcomes recorded by the BioCells Medical team after personalised regenerative medicine protocols.
The BioCells Program
Our SMA programme combines five biological components into a single personalised protocol. Each protocol is constructed following a detailed evaluation of the patient's SMA type, current motor function, prior treatment history and clinical priorities. Cellular therapy does not replace gene therapy or SMN-modulating drugs — it provides complementary biological support at the tissue level.
Minimally invasive administration
Treatment is delivered by intravenous infusion or targeted local injection — not surgical instruments. Particularly important for paediatric patients where surgical risk is elevated.
No general anaesthesia
Critical in SMA, where respiratory compromise may make general anaesthesia high-risk. Our protocols use local anaesthesia or conscious sedation only where necessary.
No risk of immune rejection
MSCs are immunoprivileged: they express low levels of HLA-I, lack HLA-II and carry a minimal risk of rejection whether the protocol is autologous or allogeneic. Allogeneic MSC protocols do not require immunosuppression.
Complements gene therapy and SMN modulators
Our programme is designed to work alongside Zolgensma, Spinraza and Evrysdi — not to replace them. Cellular therapy addresses tissue-level consequences (neuroinflammation, NMJ pathology, muscle atrophy) that genetic approaches do not directly target.
Targets downstream biology, not only SMN protein
SMN restoration alone does not reverse established motor neuron loss or repair denervated muscle. Our protocol addresses the secondary mechanisms — neuroinflammation, trophic factor deficiency, NMJ immaturity — that perpetuate functional decline.
Patients from around the world
We work with patients from around the world. Airport transfers, accommodation, visa support and multilingual coordination are included in every treatment programme.
What It Is
MSCs are multipotent regenerative cells with established neuroprotective and immunomodulatory properties. In SMA, their primary role is to create a supportive microenvironment for surviving anterior horn motor neurons — reducing local inflammation and delivering trophic factors that gene therapy alone cannot provide.
How It Is Done
Cells are collected from the patient's own bone marrow (autologous) or sourced from a certified donor (allogeneic), depending on the patient's age, weight and clinical indications. For paediatric patients, allogeneic sourcing is often preferred to minimise procedural burden. All cells are expanded, quality-controlled and tested in our certified Warsaw laboratory.
Biological Mechanisms
How This Helps in Spinal Muscular Atrophy
In SMA, motor neuron loss is driven not only by SMN protein deficiency but also by a secondary neuroinflammatory cascade and loss of trophic support. Even patients receiving gene therapy or SMN modulators may continue to lose motor neurons because the local spinal cord environment remains hostile. MSCs directly address this by stabilising the microenvironment around surviving motor neurons — reducing inflammation and providing the biological signals needed for cellular maintenance.
Your Medical Board
The exact combination, dosage, sequencing and delivery method of all five components is determined individually by our medical board for each patient. Paediatric protocols differ substantially from adult protocols in dosage, delivery method and monitoring frequency. Your programme is constructed based on your specific SMA type, age, prior treatment history, current motor function and clinical priorities.
Your protocol is designed individually. Speak with our medical team to understand what your personalised program would include.
Request ConsultationPatient Journey
Your case is reviewed remotely by our physician team. We assess the diagnosis, SMA type, current motor function (HFMSE/RULM scores if available), prior treatment with gene therapy or SMN modulators, and treatment goals. This consultation is free and carries no obligation.
A detailed review of all medical documentation — genetic testing results, motor function assessments, pulmonary function data, orthopaedic status and prior treatment records. Our medical board evaluates eligibility, confirms safety parameters and designs your personalised therapeutic protocol.
Cells are collected (where autologous sourcing is indicated), isolated, expanded and quality-tested in our certified Warsaw laboratory. Each batch receives a full traceability certificate. This stage typically takes 2–3 weeks.
Cells are delivered by intravenous infusion or targeted local administration — no surgery, no general anaesthesia. For paediatric patients, our protocols are adapted to minimise procedural stress. Airport transfers, accommodation and visa support are included in the programme for international patients.
Structured rehabilitation sessions with our specialist, adapted to the patient's age, SMA type and current motor capacity. For children: developmental motor exercises, respiratory physiotherapy and postural support. For adults: targeted strength maintenance and endurance training. Available at our clinic or remotely coordinated with your local physiotherapy team.
Your dedicated coordinator monitors motor function, respiratory status and overall well-being. Standardised HFMSE and RULM assessments are scheduled at defined intervals. A medical-grade wearable bracelet supports continuous health tracking regardless of your location.
The first step is free. Request a medical consultation and our medical consultant will contact you within 24 hours.
Request ConsultationSafety Profile
Cellular therapy is considered safe when delivered under proper medical supervision and according to validated protocols. In our practice, the procedure is well-tolerated by both paediatric and adult SMA patients.
Temporary mild reactions — such as transient local discomfort at the infusion site, slight fatigue or low-grade temperature — may occur in a minority of patients. These are typically short-lived and indicate active immune engagement. Paediatric patients are monitored with age-appropriate vital sign protocols throughout and after administration.
A final medical assessment is performed on-site before every treatment session. If a patient's respiratory or general status has changed, the programme may be temporarily modified or postponed for safety reasons.
All contraindications are evaluated individually. Chronic non-invasive ventilation (BiPAP/CPAP) is not a contraindication — many of our SMA Type I and II patients use ventilatory support and are safely treated within our programme.
Standard Contraindications
Active acute infection or fever
Active malignancy or ongoing chemotherapy / radiotherapy
Severe decompensated cardiac or renal failure
Acute respiratory decompensation requiring emergency ventilatory support
Post-Treatment
Dedicated rehabilitation specialist
monitors motor function, respiratory status and developmental progress (paediatric patients)
Personalised rehabilitation programme
adapted to SMA type, age, current motor capacity and treatment response
Medical-grade wearable monitoring
continuous physiological data collection supporting clinical decision-making
Long-term coordinator support
proactive check-ins, clinical guidance and response to any changes in motor or respiratory status
Continued clinical access
our medical team remains available for ongoing reassessment, protocol adjustment and coordination with your local neurology and physiotherapy teams
Biological regeneration in SMA requires sustained monitoring and adjustment. The period following treatment is as medically important as the treatment itself — motor function assessments, respiratory monitoring and rehabilitation continuity are essential to achieving and maintaining clinical benefit.
Get Started
If you or your child has been diagnosed with Spinal Muscular Atrophy, our medical team is available for a free, no-obligation medical consultation — based on the diagnosis, SMA type, current motor function and individual clinical profile.
We review every inquiry personally. You will speak with a physician, not an administrator.
Submit your case online or by phone
Our medical consultant contacts you to review your documents
The medical board presents your personalised treatment plan
Request a Consultation
Tell us about your condition. Our medical consultant will contact you within 24 hours to review your documents.
Open Consultation FormMultilingual coordination — English, Italian, French, Russian, Polish
Evidence Base
Our clinical approach is informed by and consistent with published research in the field of regenerative medicine.
