List of Hospitals and Doctors Helping with APOE Disorders in California
Spinal muscular atrophy (SMA) affects 1 in 10,000 live births, with 60% of cases being Type 1—the most severe form. Early treatment with FDA-approved SMA therapies has achieved high survival rates in clinical studies (near 100% in early-treated nusinersen cohorts; high survival in onasemnogene gene therapy trials). Yet critical gaps remain: patients with ultra-rare SMN1 variants, compound heterozygous mutations, or incomplete responses to standard treatments face "no options" scenarios. Nome's personalized therapy platform fills this void by analyzing patient-specific SMN1 mutations to develop experimental treatment options—providing free AI-generated, expert-reviewed evaluations when conventional approaches fall short. California hosts 10+ specialized neuromuscular centers with multidisciplinary SMA teams, state-funded support programs regardless of income, and the most comprehensive pathway to emerging personalized therapies in the country. This guide lists California's top SMA treatment centers, specialists, and the structured pathway to experimental therapies when families hear "there's nothing more we can do."
What You Need to Know About SMA Before Reading This List
SMN1 gene mutations cause progressive motor neuron degeneration, with approximately 800 Californians currently living with SMA. Understanding the basics helps you navigate California's treatment landscape:
Disease mechanism:
Defects in SMN1 drastically reduce survival motor neuron (SMN) protein
This protein shortage disrupts motor neurons in the spinal cord
Progressive muscle weakness, impaired crawling, walking, breathing, swallowing
Autosomal recessive inheritance; carrier frequency 1 in 40
SMN1 vs. SMN2:
SMN1 produces full-length, functional SMN protein
SMN2 backup gene produces only ~10% functional protein
More SMN2 copies generally mean milder disease
All FDA-approved therapies boost SMN2 output or replace SMN1
SMA Types:
Type 1 (Werdnig-Hoffmann): Onset first 6 months, severe hypotonia, respiratory failure risk, 60% of cases
Type 2 (Dubowitz): Onset 6-18 months, sitting achieved but never walking independently, scoliosis, contractures
Type 3-4: Milder, later-onset variants
Why California's system matters: Since June 2020, California's newborn screening includes SMA, enabling intervention before irreversible motor neuron loss. Treatment within six weeks produces significantly higher rates of achieving developmental milestones.
When specialized centers matter most: Patients with ultra-rare SMN1 point mutations, compound heterozygous variants, or incomplete responses to standard therapies need access to emerging experimental approaches. Nome's Patient Journey Platform complements California's clinical infrastructure by mapping personalized ASO or gene therapy pathways for cases where FDA-approved drugs aren't enough—free evaluations built by AI, validated by PhDs.
10 California Hospitals for Spinal Muscular Atrophy Care
1. UCSF Benioff Children's Hospitals (San Francisco & Oakland)
Why it's on this list: Leading neuromuscular research and comprehensive multidisciplinary SMA clinic
What they offer:
All three FDA-approved SMA therapies on-site
Genetic counseling through Clinical Genetics program
Respiratory therapy coordination
Physical medicine and rehabilitation
Clinical trial access for emerging therapies
Multidisciplinary approach reduces complications
Contact: (415) 353-2437 | Mission Bay: 1825 Fourth Street, San Francisco | Oakland: 747 52nd Street
2. Lucile Packard Children's Hospital at Stanford (Palo Alto)
Why it's on this list: Comprehensive program with team-based approach and active SMA research
What they offer:
Spinraza, Zolgensma, Evrysdi administration
Pediatric Neurogenomics Program for genetic counseling
Pulmonology partnership for respiratory management
Orthopedic surgery for scoliosis intervention
Gastroenterology for feeding tube placement
Newborn screening follow-up with 1-2 week assessment
Key specialists:
Dr. John Day, MD, PhD - Neuromuscular Program Director
Pediatric neurology team with early intervention focus
Contact: (650) 723-5437 | 725 Welch Road, Palo Alto
3. UCLA Mattel Children's Hospital (Los Angeles)
Why it's on this list: NORD Center of Excellence with California Center for Rare Diseases
What they offer:
Genetic testing coordination
Clinical trials for experimental SMA therapies
Triple board-certified neuromuscular specialists
UCLA Institute for Precision Health resources
Contact: (310) 825-0867 | childneuro@mednet.ucla.edu | 200 Medical Plaza, Los Angeles
4. Children's Hospital Los Angeles (CHLA)
Why it's on this list: Free-standing children's hospital with on-site genetic testing enabling rapid diagnosis and treatment
What they offer:
Center for Personalized Medicine with rapid genetic identification
Research coordination for clinical trial enrollment
Multidisciplinary neurology teams
Spanish-language support services
Contact: (323) 660-2450 Sunset Boulevard, Los Angeles
5. Rady Children's Hospital San Diego
Why it's on this list: Nationally ranked in pediatric neurology with Institute for Genomic Medicine
What they offer:
Advanced genomic sequencing for SMN1 mutation confirmation
Rady Precision Medicine Clinic
All FDA-approved SMA therapies
Neuromuscular disease specialists
Coordinated care across neurology, pulmonology, orthopedics, rehabilitation
Contact: (858) 966-5819 | 3020 Children's Way, San Diego
6. CHOC (Children's Hospital of Orange County)
Why it's on this list: Only pediatric neuromuscular center in Orange County with comprehensive multidisciplinary services
What they offer:
SMA treatment administration
Physical and occupational therapy
Respiratory support coordination
Nutritional counseling
Family support services
Contact: (714) 997-3000 | 1201 W La Veta Ave, Orange | Mission Viejo: 27700 Medical Center Road
7. UC Davis Health (Sacramento)
Why it's on this list: Serves Northern California and Central Valley with neuromuscular program
What they offer:
Neurology specialty clinics
Genetic counseling services
Clinical research participation opportunities
Coordinated multidisciplinary care
Contact: (916) 734-2011 | 4860 Y Street, Sacramento
8. Loma Linda University Children's Hospital (Inland Empire)
Why it's on this list: Serves Riverside and San Bernardino counties with comprehensive pediatric neurology
What they offer:
Neuromuscular disease treatment
California Children's Services (CCS) clinic for medically complex patients
Physical medicine and rehabilitation
Contact: (909) 558-4000 | 11234 Anderson Street, Loma Linda
9. Shriners Children's Northern California (Sacramento)
Why it's on this list: Specialized pediatric orthopedic and neuromuscular care with no cost to families
What they offer:
Orthopedic management of scoliosis and contractures
Physical and occupational therapy
Respiratory support coordination
Adaptive equipment assessment
No insurance required—services regardless of ability to pay
Contact: (916) 453-2000 | 2425 Stockton Boulevard, Sacramento
10. Stanford Health Care (Adult Neuromuscular Program)
Why it's on this list: Transition care for adolescents and adults with SMA, including Type 2-4 patients
What they offer:
Adult neuromuscular disease specialists
Transition clinics from pediatric to adult care
Ongoing Spinraza administration for adult patients
Clinical trials for adult SMA populations
Coordinated care with pulmonology, cardiology, orthopedics
Contact: (650) 723-6469 | 213 Quarry Road, Palo Alto
Leading California Neuromuscular Specialists for SMA
Northern California Specialists
Dr. John Day, MD, PhD (Stanford University)
Credentials: Neurologist, Neuromuscular Program Director
Why he's on this list: Recognized expert in team-based SMA care
Specialization: All SMA types, gene therapy administration
Contact: Stanford Health Care Neuromuscular Program
UCSF Benioff Neuromuscular Team
Why listed: Multidisciplinary model ensuring optimal therapy coordination
Specialization: Comprehensive SMA management from infancy through adulthood
Contact: (415) 353-2437
Southern California Specialists
UCLA Pediatric Neurology Faculty
Credentials: Board-certified specialists with neuromuscular expertise
Why listed: California Center for Rare Diseases affiliation
Specialization: Genetic neuromuscular disorders, clinical trial coordination
Contact: (310) 825-0867 | childneuro@mednet.ucla.edu
CHLA Neuromuscular Specialists
Why listed: Center for Personalized Medicine enables rapid genetic diagnosis and treatment matching
Specialization: Genetic testing integration with clinical care
Contact: (323) 361-2471
Rady Children's Neuromuscular Team
Why listed: Institute for Genomic Medicine provides advanced SMN1 mutation analysis
Specialization: Complex genetic variants, precision medicine approaches
Contact: (858) 966-5819
FDA-Approved Spinal Muscular Atrophy Treatment Options
Three FDA-approved therapies transformed SMA care, with approximately 90% of early-treated patients demonstrating motor development improvement or stability.
How Each SMA Therapy Works
Spinraza (nusinersen):
Mechanism: SMN2 splicing modifier increasing functional protein production
Administration: Intrathecal injection via lumbar puncture
Schedule: 4 loading doses over 2 months, then every 4 months maintenance
Clinical response: 51% Type 1 improvement or stabilization
Zolgensma (onasemnogene abeparvovec):
Mechanism: Gene replacement therapy delivering functional SMN1 copy
Administration: One-time intravenous infusion
Age limit: Approved for patients under 2 years
Survival rates: High survival in treated Type 1 infants
Side effects: Liver enzyme elevation requiring monitoring
Evrysdi (risdiplam):
Mechanism: Oral SMN2 splicing modifier
Administration: Daily liquid medication at home
Advantage: No invasive procedures required
Suitable for: Broader age range and patient types
Treatment Center Requirements
Not all hospitals can administer these therapies. Centers must have:
Pediatric neuromuscular specialists
Intrathecal injection expertise (Spinraza)
Gene therapy administration capability (Zolgensma)
Liver function monitoring protocols
Multidisciplinary support teams
Why Standard SMA Therapies Aren't Enough for Everyone
While FDA-approved therapies work for most SMA patients, critical gaps remain:
When standard treatments don't apply:
Compound heterozygous SMN1 mutations (different mutations on each chromosome)
Rare SMN1 point mutations not responsive to SMN2 upregulation
Patients who don't achieve adequate motor improvement with existing therapies
Adults with Type 3-4 SMA seeking experimental options
The personalized medicine solution: Custom antisense oligonucleotides (ASOs) or gene therapy constructs designed for individual genetic profiles address the root cause rather than just boosting SMN2 output.
Nome's role in this landscape: Nome's AI-powered platform analyzes patient-specific genetic mutations against databases and manufacturers to map feasible personalized treatment options with clear next steps. The system:
Reviews peer-reviewed studies, registries, case reports, mechanistic data
Cites every source used in reports
Provides mechanism-level rationale for recommended approaches
Identifies which contract manufacturers can produce specific therapies
Structures contracts and regulatory pathways
The transparent process: Share your diagnosis on Nome's website. You'll receive a free report—built by AI, validated by PhDs—scoring whether personalized therapy is possible and what the next steps are.
How California State Resources Support SMA Families (Free Services)
1. California Children's Services (CCS)
What they provide:
Diagnostic and treatment services
Medical equipment
Medical case management
Physical and occupational therapy
Eligibility myth debunked: NOT limited to families under $40,000—higher income families qualify if medical expenses are high relative to income
Contact: Your county public health department | DHCS CCS
2. California Regional Centers (21 Statewide)
What they provide (FREE regardless of income):
Eligibility assessment at no cost
Case management/service coordination
Individual Program Plan development
Early intervention (ages 0-3)
Equipment and therapy referrals
Respite care funding
Family support grants
Major centers:
Regional Center of Orange County: (714) 796-5100
San Diego Regional Center: (858) 576-2996
Eastern Los Angeles Regional Center: (626) 299-4700
Frank D. Lanterman Regional Center: (213) 383-1300
Find yours: DDS listing
3. Cure SMA Patient Advocacy
Cure SMA provides:
Care center network:
Directory of accredited SMA treatment centers
Physician referrals and second opinion coordination
Treatment center quality standards
Research advocacy:
Clinical trial matching services
Drug development pipeline updates
Research funding priorities shaped by patient input
Family support programs:
Local California chapters and support groups
Emergency preparedness guides
Financial assistance for equipment
Educational conferences and webinars
Contact: info@curesma.org | (800) 886-1762 | CureSMA.org
Critical resource for rare variants: While Cure SMA connects families to existing trials and approved therapies, Nome complements this by mapping experimental therapy options for rare variants or treatment-resistant cases—scenarios where standard trial listings and approved drugs don't provide solutions. Use both resources together.
Coordinating Care: Building Your SMA Medical Team
Comprehensive SMA management requires multiple specialists working together:
Essential Specialists for Comprehensive SMA Care
Core team members:
Pediatric neurologist or neuromuscular specialist (team leader)
Pulmonologist: Respiratory function monitoring, ventilation management
Orthopedic surgeon: Scoliosis monitoring and surgical intervention
Gastroenterologist: Feeding tube placement and nutritional support
Physical therapist: Range of motion, strength maintenance
Occupational therapist: Fine motor skills, adaptive equipment
Respiratory therapist: Airway clearance, ventilator management
Genetic counselor: Family planning, carrier testing
Care coordinator: Appointment scheduling, insurance authorization
Advanced care considerations:
Palliative care team: Quality of life optimization (not end-of-life only)
Transition coordinator: Adult care planning for adolescent patients
Social worker: Financial assistance, emotional support
Questions to Ask When Choosing a Treatment Center
Treatment capability:
Do you administer all three FDA-approved SMA therapies?
How many SMA patients do you treat annually?
What is your timeline from diagnosis to first treatment?
Do you participate in clinical trials?
Team structure:
How often does the multidisciplinary team meet?
Will I see the same specialists at each visit?
How do you coordinate care between specialists?
What is your protocol for urgent issues?
Practical logistics:
What is typical wait time for new patient appointments?
Do you accept my insurance/Medi-Cal/CCS?
Is telemedicine available for follow-up visits?
Do you have evening or weekend clinic hours?
Using Telemedicine to Access Distant Experts
California's geography creates access challenges. Newborn screening aims for assessment within 1-2 weeks, but rural families may live hours from specialized centers.
Telemedicine solutions:
Initial genetic counseling and result interpretation via video
Follow-up monitoring between in-person treatment visits
Specialist consultations with local primary care coordination
Second opinions from distant centers without travel
When in-person visits are required:
Gene therapy administration
Intrathecal Spinraza injections
Orthopedic evaluations and surgical procedures
Comprehensive multidisciplinary assessments
For clinicians managing SMA patients: Nome's Provider Platform offers HIPAA-compliant tools to receive Provider Briefs with prioritized experimental therapy options for patients with complex mutations. The platform delivers:
Concise summaries with mechanism-level rationale
Citations for all recommendations
Chat interface for interrogating assessment logic
Turn "no options" into next steps for your patients
Clinicians register by answering questions about expected use. Business Associate Agreements available for HIPAA compliance.
Your Action Plan: 7 Steps to Take Right Now
1. Confirm genetic diagnosis and obtain complete test results
Request full genetic testing report including:
Specific SMN1 mutation(s) identified
SMN2 copy number
Carrier status confirmation for both parents
Laboratory CLIA certification
2. Establish care at nearest California neuromuscular center
Choose from the 10 hospitals listed above based on:
Geographic proximity for regular treatment visits
Specific therapy availability (especially Zolgensma age restrictions)
Insurance network participation
Multidisciplinary team comprehensiveness
3. Apply for California Children's Services (CCS)
Contact your county public health department for enrollment. CCS provides:
Diagnostic services
Treatment coverage (including expensive therapies)
Medical equipment
Physical and occupational therapy
Income myth debunked: NOT limited to families under $40,000—higher income families qualify if medical expenses are high relative to income
Find your county: DHCS CCS Directory
4. Connect with your Regional Center (FREE services regardless of income)
California operates 21 Regional Centers providing:
Eligibility assessment at no cost
Case management and service coordination
Early intervention (ages 0-3)
Equipment and therapy referrals
Respite care funding
Family support grants
5. Join Cure SMA and enroll in patient registry
Email info@curesma.org to:
Access Family Contact List connecting you with other California SMA families
Receive clinical trial alerts matching your child's profile
Apply for equipment grants
Attend educational conferences
6. Contact Nome for free personalized therapy assessment
If your child has:
Ultra-rare SMN1 variant not well-studied
Compound heterozygous mutations
Incomplete response to FDA-approved therapy
Adult-onset Type 3-4 seeking experimental options
Share your diagnosis to receive:
Free AI-generated, expert-reviewed evaluation
Feasibility scoring for personalized ASO or gene therapy
Clear next steps with transparent pricing
No financial commitment for initial assessment
7. Organize medical records for treatment readiness
Create digital and physical folders with:
Complete genetic testing results
Newborn screening results (if applicable)
Motor function assessments
Pulmonary function tests
Imaging studies
Current medication list
Insurance cards and authorization documents
Keep accessible for Nome intake, clinical trial screening, and specialist appointments.
Conclusion
California SMA families have access to world-class care through 10+ specialized neuromuscular centers, FDA-approved therapies achieving high survival rates with early treatment, and comprehensive state-funded support programs regardless of income. Yet critical gaps remain for patients with ultra-rare SMN1 variants or incomplete treatment responses. Nome's structured pathway from diagnosis to personalized experimental therapy fills this void—providing free AI-generated, expert-reviewed evaluations that turn "no options" into actionable roadmaps backed by transparent pricing and PhD oversight.
Begin by establishing care at your nearest California neuromuscular center from this list, applying for CCS and Regional Center services, and joining Cure SMA's advocacy network. When conventional approaches fall short, contact Nome to explore personalized antisense oligonucleotide or gene therapy designed for your child's specific mutation. Together, these resources create the most comprehensive SMA support ecosystem in the country—ensuring no family faces their rare disease journey alone.
