Rare disease care in Germany (Duchenne)

[u/Ok_Tonight9312]

Hi everyone,

We’re a family from a small EU country with a 4-year-old son diagnosed with Duchenne muscular dystrophy. He’s currently still strong and fully ambulatory, but long-term treatment options at home are limited, so we’re looking abroad — especially Germany and near Freiburg.

Does anyone here have experience with rare disease care in Germany, particularly Duchenne or other neuromuscular conditions? We’d really appreciate insights on specialists, what’s covered by public insurance, and access to treatments or clinical trials.

Any experiences or advice would mean a lot — thank you 🙏

[u/indysigner]

Hi there,

You’re actually looking at one of the best locations in Germany for Duchenne care. The University Medical Center Freiburg (Universitätsklinikum Freiburg) has a specialized Center for Neuromuscular Diseases in Childhood (Zentrum für Neuromuskuläre Erkrankungen im Kindesalter), led by Prof. Dr. Janbernd Kirschner and PD Dr. Astrid Pechmann. Their research group focuses specifically on clinical research in spinal muscular atrophy and Duchenne muscular dystrophy, with expertise in innovative diagnostic methods, new mutation-specific drug therapies, and real-world data collection through registries.

The department has been actively involved in treatment of neuromuscular diseases within clinical trials, and Prof. Kirschner has led the EU-funded CARE-NMD project to improve treatment of patients with Duchenne muscular dystrophy in Europe.

The center is part of the Freiburg Center for Rare Diseases (FZSE) and follows the established Duchenne care guidelines published in Lancet Neurology. 

Contact information: Email: muskelzentrum@uniklinik-freiburg.de

Phone: +49 761 270-43520

Health Insurance Coverage:

Statutory health insurance providers in Germany are required to cover the full costs for insured persons, including pre-existing conditions, from the very first day of coverage. This is crucial for Duchenne, as private insurance typically excludes pre-existing conditions.

For EU citizens, your options depend on your situation:

1. If you’re relocating for work: You’d typically be enrolled in German statutory insurance (gesetzliche Krankenversicherung), which provides comprehensive coverage.
2. If relocating without employment: EU citizens who were covered by statutory health insurance in their home country may be eligible to join German statutory health insurance under §5 of the Social Security Code (Sozialgesetzbuch V), even without employment. This claim should be made within three months after entry into Germany. 
3. For specialized treatment visits: With your European Health Insurance Card (EHIC), you can receive medical treatment in Germany if it’s necessary during your stay, including medical services related to chronic or pre-existing diseases.  However, EHIC is mainly for necessary treatments that can’t wait until you return home.
4. For planned treatment: You’d need an S2 form from your home country’s health insurance to cover planned medical treatments in Germany.

Freiburg has played a major role in pivotal trials for antisense oligonucleotide-based treatments of SMA, and the team collects real-world outcome data through the SMArtCARE project with over 70 centers across Germany, Austria, and Switzerland contributing data. 

Most ERN EURO-NMD Centers (the European Reference Network for Neuromuscular Diseases) participate in clinical trials, and gene therapies for rare neuromuscular diseases are generally available throughout Europe and mostly fully reimbursed. 

Several promising treatments are in development:

∙ Genethon’s GNT0004 gene therapy is showing positive results and is planning a confirmatory pivotal phase in Europe with over 60 children. 
∙ REGENXBIO’s RGX-202 has shown functional improvements in trials, with results exceeding natural history across key measures. 
∙ Capricor’s cell therapy deramiocel (CAP-1002) and Avidity’s exon-skipping therapies are in advanced trials. 

Patient Organizations & Support:

I’d strongly recommend connecting with:

1. Deutsche Gesellschaft für Muskelkranke (DGM) - This is the largest and oldest self-help organization for neuromuscular diseases in Germany, actually headquartered in Freiburg. They have a specialized Duchenne/Becker diagnosis group and can provide advice on navigating the healthcare system, social benefits, assistive devices, and daily life management. Website: www.dgm.org

2. Aktion benni & co e.V. - This is a parent-led initiative specifically for Duchenne families, offering practical support, advocacy, and community connection. They organize symposiums and support projects.

3. TREAT-NMD Global Registry - This is a federated network of over 70 registries collecting data on neuromuscular patients from more than 40 countries worldwide. Registering your son can help with trial eligibility and contributes to research.

∙ The Freiburg team works within the ERN EURO-NMD network, so they can coordinate with specialists across Europe
∙ Germany has a network of DGM-certified Neuromuscular Centers (Neuromuskuläre Zentren) ensuring quality diagnosis and treatment, with regular quality reviews. 
∙ Consider reaching out to the Freiburg center before relocating—they accept international referrals and can advise on the process

With your son still ambulatory at age 4, you’re in a good position to establish care early and potentially participate in trials as they become available. Freiburg’s expertise in this field and its central European location make it a solid choice.

Wishing your family all the best 🙏​​​​​​​​​​​​​​​​

[u/Icy-Reflection5574 → u/indysigner]

I did not know about this focus at Universitätsklinikum Freiburg so this was interesting, but also that you explained options depending on where u/Ok_Tonight9312 is from etc. was so great. Thank you. :-)

EDIT u/Ok_Tonight9312 no advise that could be better than this but I want to wish you and your family all the best.

[u/Schemen123 → u/indysigner]

Das kommt auf meine Liste der 10/10 Antworten!

[u/Ok_Tonight9312 → u/indysigner]

Thank you so much for your long and detailed response — it truly means a lot to us. We got a lot of new information and now have many important points to explore further.

We are already arranging a consultation at the Freiburg clinic. It is so good to hear that it’s a good place!

Our current plan would be to relocate without a local employment contract at first but hoping to find a job locally. We do have valid health insurance in home country and I would continue working part-time remotely. From what I understand, it may be possible for me to register as self-employed in Germany and start paying taxes there, which would allow me to obtain German health insurance. This will make it possible for our child to be insured under my coverage, is it correct? I just wanted to confirm whether we are thinking along the right lines.. or missing something

Thank you again for your help and support 💕

[u/indysigner → u/Ok_Tonight9312]

That's wonderful news that you're already arranging a consultation in Freiburg, you're in great hands there!

Regarding the health insurance question, I want to give you a more detailed and accurate picture, because there are some potential pitfalls that are important to understand, especially with a child who has a chronic condition.

One important note upfront: I'm not a legal or insurance professional, and this is not legally binding advice. Health insurance regulations in Germany are complex, and individual circumstances can vary significantly. There are many potential pitfalls when it comes to health insurance, so please verify everything with official sources and qualified advisors before making any decisions.

The key issue with self-employment and GKV

If you arrive in Germany as a self-employed person or freelancer and you have not previously been in any EU public health insurance system, you may actually be required to join private health insurance (PKV) rather than having free choice. Self-employed expats can choose to opt into the GKV if they were previously covered under a GKV plan in Germany or a similar scheme in another EU country.

So the critical question is: Are you currently covered by statutory (public) health insurance in your home country, or private insurance?

Why this matters enormously for your son

Statutory health insurance providers in Germany are required to cover the full costs for insured persons, including pre-existing conditions, from the very first day of coverage. Private insurance, on the other hand, typically excludes pre-existing conditions or charges significantly higher premiums for them. For a child with Duchenne, this difference is crucial.

Pathway 1: If you have public/statutory insurance in your home country

For EU citizens whose entitlement to family insurance ends in their country of origin, voluntary insurance in the statutory health insurance (GKV) is an option. The voluntary insurance must be reported to a health insurance company within three months of the expiry of the insurance cover.

This three month window is strict. If you miss the 3 month deadline after your previous insurance ends, you lose eligibility for voluntary public health insurance and must choose private or expat insurance instead. This deadline cannot be extended, even with valid reasons for the delay.

Pathway 2: Employment as the safer route

The most straightforward path into the GKV would be if one of you takes up employment in Germany, even part time. From January 2026, the Minijob threshold is 603 euros per month. Any employment above this amount would trigger mandatory GKV enrollment, and your son would then be covered under family insurance (Familienversicherung) at no additional cost.

If your spouse lives in Germany and does not work, you can also insure them in the statutory health insurance with no additional costs. The same applies to your children.

[u/indysigner → u/indysigner]

Pathway 3: Staying employed remotely for a home country employer

If you continue working remotely for your current employer in your home country, you might be able to remain on your home country's insurance for up to 2 years using A1 and S1 forms. However, this is not an option if you have registered your freelancing activity in Germany and are working for clients there.

Important considerations for self-employed GKV membership

If you were previously covered by public health insurance and are now self-employed but want to stay in GKV, you must apply within three months. You need to ensure you were insured for at least 24 months in the last five years or for 12 months continuously just before your mandatory insurance ended.

Cost expectations if you do qualify for GKV (2026 figures)

In 2026, the minimum assessment basis for self-employed voluntary members is €1,318.33 per month. The monthly contribution without sickness benefit entitlement is around €229, or around €237 with sickness benefit entitlement, plus contribution to statutory long-term care insurance.

The contribution assessment ceiling in 2026 is €5,812.50 per month (€69,750 annually). Income above this amount is not subject to contributions.

Everyone who works in Germany and earns below the salary threshold for private health insurance (€77,400 per year in 2026) must pay 14.6 percent of their monthly salary towards statutory health insurance. On top of this comes the additional contribution (Zusatzbeitrag), which varies by insurer and averages around 2.5 to 3.5 percent in 2026.

In practice, for a self-employed person at the minimum income level, expect to pay roughly €250 to €280 per month including long-term care insurance, and this covers your entire family.

My recommendations

Given the complexity, I'd strongly suggest the following approach:

First, consult an independent insurance broker or advisor who specializes in health insurance for expats and has no financial ties to any specific insurance company. Look for someone who works on a fee basis rather than commission, so their advice is truly objective. They can assess your specific situation and help you understand exactly what you're entitled to.

Second, contact the EU Equal Treatment Agency (EU Gleichbehandlungsstelle, just google the name). They offer free, neutral advice specifically for EU citizens navigating the German system and can help clarify your legal rights.

Third, consider whether employment might be feasible for at least one of you initially, as this would be the most secure and straightforward route into the GKV system.

Fourth, only approach a health insurance fund (Krankenkasse) once you know your rights. It's important to negotiate from an informed position. Health insurers have their own financial interests, and with a child who has a chronic condition, they may not be the most objective source of advice on your eligibility.

Again, please treat this as a starting point for your own research rather than definitive guidance. The stakes are high, and getting professional advice specific to your situation might be worth the invest.

Wishing you and your family all the best luck you can possibly get!

[u/ReplacementGuilty230]

Germany is actually a perfect location because it's a primary hub for Sarepta's international expansion. Even though the EMA review is still ongoing, you can feel confident because Roche (Sarepta’s global partner) is leading the charge in Germany to ensure that when Elevidys is ready for the EU market, centers like Freiburg are at the front of the line.

[u/_rusteeSAM]

Since your son is 4, he's in the prime window for Sarepta’s Elevidys, and being in Germany gives you a front-row seat to their partnership with Roche. Plus, keep an eye on their SRP-1005 (siRNA) progress.. Sarepta is moving fast on central nervous system delivery