ASOCIACIÓN SÍNDROME PHELAN-MCDERMID ESPAÑA

What ASOCIACIÓN SÍNDROME PHELAN-MCDERMID ESPAÑA does

ASOCIACIÓN SÍNDROME PHELAN-MCDERMID ESPAÑA (ASPM) is a Spanish nonprofit patient association founded in 2013 and headquartered in Boadilla del Monte, Madrid. Its mission is to support individuals and families affected by Phelan-McDermid Syndrome (PMS), a rare genetic disorder caused by deletion or mutation of the SHANK3 gene on chromosome 22q13, characterized by severe neonatal hypotonia, global developmental delay, absent or severely limited language, and minor dysmorphisms. The association operates as a one-stop hub for affected families, delivering a Psychological Support Service (SAP), an Information and Orientation Service (SIO) reachable by phone and email, and a network of zone delegates providing localized support across Spain. It also coordinates a scientific committee, funds and promotes research projects, and facilitates registration in the Spanish national rare disease registry and an international medical registry.

ASPM's core digital assets are its website (https://22q13.org.es), developed by Fundación Ayesa and powered by WooCommerce, and the Phelan App, a mobile tool for medical follow-up of affected individuals. It also licenses content through the LUDA resource tool and publishes clinical guides, professional directories, and reference centers for clinicians. Awareness is built through the #DalesVoz and #PhelanVisible campaigns and annual content assets such as the 2026 report on late diagnosis.

The association's revenue model is multi-stream and donation-led. It accepts tax-deductible donations (up to 80% deduction for contributions up to €250 under Spanish law through Dec 31, 2026) via Bizum code 02019, online payment, and a fiscal calculator built with Fundación Lealtad; charges recurring membership fees ('hazte socio'); sells solidarity merchandise (clothing, accessories, stationery, textile goods, books, candles, plush toys, mugs) through its own e-commerce store and a network of seven partner bookstores; commercializes digital products (the solidarity song 'El Amor Es el Puente' and recordings of the III Scientific Conference); and raises funds through solidarity events, most prominently the Run Like a Hero race series and ad hoc tournaments such as the July 2026 Auñón football tournament that collected €5,065. The association is validated by Fundación Lealtad's 'Dona con Confianza' seal.

Name

ASOCIACIÓN SÍNDROME PHELAN-MCDERMID ESPAÑA

Legal name

ASOCIACIÓN SÍNDROME PHELAN-MCDERMID

Website

https://22q13.org.es

Company type

Private

Operating status

Operating

Headcount range

1–10 employees

Short description

ASOCIACIÓN SÍNDROME PHELAN-MCDERMID ESPAÑA is a Spanish nonprofit that supports families affected by Phelan-McDermid Syndrome through psychological counseling, information services, research coordination, and a national registry. It funds operations via donations, membership fees, solidarity merchandise sales, and community sporting events.

Ownership category

akta.pro rank

Product category

Patient Advocacy / Rare Disease Support Services

NAICS

Individual and Family Services (6241)

SIC

Services-Social Services (8300)

akta.pro primary industry

Disease-Specific Research & Support (e.g., Cancer, Diabetes, ALS) (BPAGACAA)

Keywords

• Rare disease patient advocacy
• Nonprofit family support services
• Genetic syndrome awareness
• Medical research coordination
• Solidarity fundraising events

Headquarters

HQ city

Boadilla del Monte

HQ country

Spain

HQ region

Europe

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

Personnel, Marketing or Sales, Technology or R&D, Supply Chain, Operations, Others

Revenue model

1. Membership fees: Families can become members (hazte socio) of the association, contributing annual fees that support the organization's operations.
2. Donations and charitable contributions: The association receives monetary donations from individuals and companies, with fiscal benefits (up to 80% tax deduction for donations up to €250 before Dec 31, 2026 per Spanish law). Bizum donation code 02019 is available.
3. Merchandise and product sales: Sale of solidarity merchandise including books, bracelets, shirts, bags, plush toys, stationery, and event-related products through the association's e-commerce store and at events.
4. Event fundraising: Fundraising through sporting events (run Like a Hero races, football tournaments, trails) and community events (markets, bingos, film screenings) organized by the association or in its name.
5. Digital product sales: Sale of digital products such as the solidarity song 'El Amor Es el Puente' (€1.50) and videos of the III Scientific Conference on PMS (€5).

Pricing tiers

Go-to-market motion3 records

Distribution channels5 records

Marketing channels8 records

Core offering

ASOCIACIÓN SÍNDROME PHELAN-MCDERMID ESPAÑA (ASPM) is a Spanish nonprofit patient association that supports families and individuals affected by Phelan-McDermid Syndrome (a rare genetic disorder caused by deletion/mutation of the SHANK3 gene on chromosome 22q13). It delivers an integrated service ecosystem including a Psychological Support Service (SAP), an Information and Orientation Service (SIO), the Phelan App for medical tracking, coordination with a national network of zone delegates, scientific research coordination, awareness campaigns (#DalesVoz, #PhelanVisible), and a solidarity merchandise e-commerce store whose proceeds fund research.

Product overview

ASOCIACIÓN SÍNDROME PHELAN-MCDERMID ESPAÑA operates primarily as a non-profit patient advocacy association, operating an online merchandise store (Tienda) alongside its core mission of supporting families affected by Phelan-McDermid Syndrome, accelerating research, and raising awareness. The store offers solidarity merchandise including branded clothing (sweatshirts, t-shirts in various designs from the #RUNLIKEAHERO campaign), accessories (badges, pens, fans, candles, fridge magnets, hourglasses, folding cups, mugs), textile products (canvas bags, backpacks, bracelets), stationery (notebooks, notepads), books about the syndrome, digital products (solidarity songs, conference video recordings), and toys (teddy bears, puzzles). The merchandise portfolio supports the association's fundraising goals while spreading awareness of the syndrome.

Differentiator

Problem solved

Functional benefit

Brands

• Run Like a Hero: A series of solidarity races and sporting events organized by the association to raise funds and awareness for Phelan-McDermid Syndrome.
• Phelan App
• PhelanVisible

Products and services

• Servicio de Apoyo Psicológico (SAP)
• Servicio de Información y Orientación (SIO)
• Phelan App
• Membership Program (Hazte Socio)
• Run Like a Hero Solidarity Sporting Events
• III Scientific Conference on Phelan-McDermid Syndrome (PMS 2025)
• Solidarity Books (Lo Inesperado, El Poder de una Sonrisa, Coloring Book)

Quantifiable outcome

• The solidarity football tournament in Auñón raised €5,065 donated entirely to the association.
• +2 more outcomes

Named customers1 record

Segments3 records

Ideal customer profiles3 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature3 records

Partnerships

Nine partnerships are on record, tiered core, major and minor.

• Fundación LealtadcoreOthersFundación Lealtad has validated the association's transparency and good governance practices, enabling the association to display its 'Dona con Confianza' (Donate with Confidence) seal. It also collaborated on a donation calculator tool that shows fiscal benefits of donations.
• Fundación AyesacoreTechnology or IntegrationFundación Ayesa developed the association's website platform (https://22q13.org.es), providing the digital infrastructure for the e-commerce store, member services, and content management.
• Run Like a HerocoreGTM or Marketing PartnerRun Like a Hero organizes sports events and solidarity races to raise funds and awareness for the association. Multiple editions of sports events have been held with the association as beneficiary.
• Fundación Alex RiveramajorStrategic or Co-development PartnerFundación Alex Rivera elaborated the 'Guía de apoyo para la planificación vital de las personas con discapacidad intelectual' (Life Planning Guide for People with Intellectual Disabilities). The ASPM participated in its presentation on June 24, 2026 and recommends this resource to families.
• Esencia Natural (Valencia)minorGTM or Marketing PartnerLocal artisan business in Valencia affected by DANA that manufactures beeswax candles with the association's logo, sold in the ASPM store. The partnership supports both the association and local artisan recovery.
• Partner bookstores (Librerías amigas)minorChannel Partner/ Reseller/ DistributorA network of independent bookstores across Spain (A Coruña, Betanzos, Arteixo, Ponteareas, Sevilla, Herencia) distribute the association's books ('Lo Inesperado'), providing wider physical availability alongside the online store.
• Tournament organizers in AuñónminorGTM or Marketing PartnerLocal organizers in Auñón, Guadalajara coordinated the solidarity football tournament on July 4, 2026 that raised €5,065 for the association, demonstrating community-driven fundraising partnerships.
• Solidarity companies (Empresas solidarias)minorGTM or Marketing PartnerCorporate partners that support the association through donations, volunteering, or CSR programs, listed under the 'Empresas solidarias' section on the website.
• Zone delegates (Delegados de zona)coreChannel Partner/ Reseller/ DistributorThe association has a network of zone delegates across Spain who provide localized support, information, and orientation to affected families in their geographic area.

Scale indicators2 records

Recent moves6 records

Expansion highlights5 records

Broad incumbents

• EURORDIS - Rare Diseases Europe: European-level umbrella organization for rare disease patient associations. Comparable as a membership-based nonprofit supporting rare disease communities, though operating at continental scale across multiple disease areas rather than focusing on Phelan-McDermid specifically.
• FEDER (Federación Española de Enfermedades Raras): The Spanish umbrella federation for rare diseases, of which ASPM is effectively an affiliated member. Operates at broader scale across all rare diseases in Spain, providing representation, awareness, and resources that complement ASPM's disease-specific focus.

Direct peers

• Phelan-McDermid Syndrome Foundation UK: UK-based sister organization dedicated to Phelan-McDermid Syndrome, offering family support and research funding. Comparable in mission and disease specialization, serving UK families in a similar nonprofit patient association model.
• Phelan-McDermid Syndrome Foundation: The primary US-based patient organization for Phelan-McDermid Syndrome, providing family support, research grants, and the international PMS registry. Directly comparable as a disease-specific patient association operating in the same rare disease niche, though serving a different national geography.

Emerging players

• Asociación Española de Síndrome de Rett: Spanish patient association for Rett Syndrome, a rare genetic disorder affecting neurological development. Comparable as a Spanish rare disease patient association providing family support, research coordination, and awareness — a parallel operating model to ASPM in an adjacent rare disease niche.
• Asociación Española de Síndrome de Angelman: Spanish patient association for Angelman Syndrome, another rare genetic neurodevelopmental disorder with similar characteristics (intellectual disability, absent speech). Comparable as a Spanish disease-specific rare disease nonprofit with similar member support, awareness, and research funding activities.

Others

• Fundación Lealtad: Spanish nonprofit evaluator that issues the 'Dona con Confianza' transparency seal. Not a competing organization, but an enabler and credibility partner that ASPM uses to validate its governance practices — comparable only as a Spanish nonprofit ecosystem participant.

Market position

Strengths4 records

Weaknesses4 records

Competitive moat4 records

Key risks5 records

Key highlights6 records

Customer concentration

• Xx.com/phelanmcdermid
• YouTubeyoutube.com/channel/UCVw-rXJGAnMAyQfBx3s9j9Q
• Facebookfacebook.com/AsociacionPhelanMcDermid
• LinkedInlinkedin.com/company/asociaci-n-s-ndrome-phelan-mcdermid-espa-a
• Instagraminstagram.com/sindromephelan

Revenue estimate

Valuation estimate

Number of profiles

Profiles3 records

Funding overview

Funding rounds

Investors

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M&A

Investments

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Frequently asked questions about ASOCIACIÓN SÍNDROME PHELAN-MCDERMID ESPAÑA