Gene & Rare Disease Therapies
NRDL-covered · Boao Lecheng early access
Typical Duration
Assessment 1–2 wks · therapy varies
Estimated Cost
Varies widely by program
NRDL-listed therapies (e.g., nusinersen) are dramatically discounted; Lecheng early-access drugs are priced per program. Written estimates issued per therapy.
Why China
Gene & Rare Disease Therapies
End the diagnostic odyssey in weeks
Rapid trio whole-genome sequencing with 2-week turnaround at national genetics hubs gives undiagnosed children answers that can take years elsewhere.
National reimbursement slashed costs
Innovative rare-disease drugs such as nusinersen are on China's national reimbursement list, cutting annual costs by roughly 70% compared with list prices abroad.
Boao Lecheng early access
The Hainan pilot zone licenses globally approved drugs and devices not yet on the mainland market — a unique early-access channel for rare-disease families.
True multidisciplinary care
12-specialty MDT clinics coordinate neurology, rehabilitation, nutrition, respiratory care and orthopedics around one plan for the child.
Quick Overview
Care Journey
Case Review
Submit your records and imaging; receive a written expert assessment and preliminary plan within 48 hours.
Plan & Estimate
A multidisciplinary team (MDT) defines your child's individualized plan with a transparent cost estimate.
Travel Preparation
We assist with medical visas, flights and accommodation, and assign a professional medical interpreter.
In-Hospital Care
A dedicated coordinator accompanies your family through examinations and treatment, bridging all communication.
Recovery & Follow-up
Remote follow-up after you return home, with review schedules and medication guidance.
Long-term Management
Stay connected with your child's treating team, with fast-track return visits whenever needed.
Medical Team
Hospitals
Children's Hospital of Fudan University
Shanghai · National Children's Medical Center
Children's Hospital of Chongqing Medical University
Chongqing · National Children's Regional Medical Center
West China Second University Hospital, SCU
Chengdu · National Children's Regional Medical Center
Beijing Jingdu Children's Hospital
Beijing · Private Grade-III Children's Specialty Hospital
Specialists
Frequently Asked Questions
My child has SMA. What options exist in China?+
Nusinersen is nationally reimbursed and administered at pediatric centers with experienced neurology teams; gene-replacement and oral options are accessible via the Boao Lecheng pilot zone for eligible children. The rare disease MDT assesses type, age and current function to recommend a pathway.
We still have no diagnosis. Can you help?+
Yes — rapid trio-WES/WGS with ~2-week turnaround at national genetics hubs ends the diagnostic odyssey for many families. Results are interpreted by a 12-specialty MDT with genetic counseling for parents.
What does treatment cost?+
NRDL-listed therapies are discounted ~70% versus international list prices; Lecheng early-access drugs are priced per program. Costs vary widely, so each family receives a written itemized estimate before committing.
Is long-term follow-up possible after we return home?+
Yes — therapy schedules (e.g., loading and maintenance dosing) are coordinated with home physicians, with remote reviews and drug administration arranged locally where regulations allow, or planned return visits.
Detailed Information
Therapy programs
| Program | Therapies | Access channel |
|---|---|---|
| Spinal muscular atrophy (SMA) | Nusinersen; gene-replacement & oral options | NRDL + Boao Lecheng |
| Duchenne muscular dystrophy | Exon-skipping & steroid optimization; trials | MDT + clinical trials |
| Lysosomal storage disorders (MPS, Gaucher) | Enzyme replacement therapy | NRDL / Lecheng |
| Thalassemia (gene therapy frontier) | Gene-editing & gene-addition trials | Clinical trials |
Rapid genomic diagnostics
- Trio whole-exome/genome sequencing with ~2-week turnaround.
- MDT interpretation across neurology, metabolism, rehabilitation and genetics.
- Carrier testing and family counseling with bilingual reports.
Access channels
- National reimbursement list (NRDL): major discounts on approved rare-disease drugs.
- Boao Lecheng International Medical Tourism Pilot Zone: licensed early access to globally approved drugs not yet marketed on the mainland.
- Clinical trial matching for children without approved options.
Long-term care
- Rehabilitation, nutrition and respiratory care plans built around each child.
- Remote follow-up with dosing schedules relayed to home physicians.
